Promethease Report

news The effectiveness of 17 alpha-hydroxyprogesterone caproate for prevention of recurrent preterm birth is influenced by SNPs. Black women *rs471767 homozygous for the major allele treatment significantly reduced the rate of preterm birth. *rs578029 who had a least one copy of the major allele, treatment significantly reduced in preterm birth non-black women *a least one copy of the minor allele of rs503362 had a significant reduction with treatment *with at least one copy of the minor allele of rs666553 had a significant reduction in very preterm birth

news The effectiveness of 17 alpha-hydroxyprogesterone caproate for prevention of recurrent preterm birth is influenced by SNPs. Black women *rs471767 homozygous for the major allele treatment significantly reduced the rate of preterm birth. *rs578029 who had a least one copy of the major allele, treatment significantly reduced in preterm birth non-black women *a least one copy of the minor allele of rs503362 had a significant reduction with treatment *with at least one copy of the minor allele of rs666553 had a significant reduction in very preterm birth

news The effectiveness of 17 alpha-hydroxyprogesterone caproate for prevention of recurrent preterm birth is influenced by SNPs. Black women *rs471767 homozygous for the major allele treatment significantly reduced the rate of preterm birth. *rs578029 who had a least one copy of the major allele, treatment significantly reduced in preterm birth non-black women *a least one copy of the minor allele of rs503362 had a significant reduction with treatment *with at least one copy of the minor allele of rs666553 had a significant reduction in very preterm birth

news The effectiveness of 17 alpha-hydroxyprogesterone caproate for prevention of recurrent preterm birth is influenced by SNPs. Black women *rs471767 homozygous for the major allele treatment significantly reduced the rate of preterm birth. *rs578029 who had a least one copy of the major allele, treatment significantly reduced in preterm birth non-black women *a least one copy of the minor allele of rs503362 had a significant reduction with treatment *with at least one copy of the minor allele of rs666553 had a significant reduction in very preterm birth

rs1045642, also known as C3435T, is a SNP located in the ABCB1 gene. It is often studied in conjunction with rs2032582. C3435T has been mentioned by: * A 'Silent' Polymorphism in the MDR1 Gene Changes Substrate Specificity (for example, to verapamil) * (R)-lansoprazole (Prevacid) concentrations are significantly increased in CYP2C19 extensive metabolizers with ABCB1 C3435T C allele. * In a Korean population, plasma concentrations of fexofenadine (Allegra) were 17% lower in 2677AA/3435CC subjects and 47% higher in the 2677TT/3435TT subjects compared to 2677GG/3435CC subjects. * In contrast, in this study no association was observed between the C3435T polymorphism and fexofenadine plasma or urine concentrations in a German Caucasian population. * A meta-analysis including 9 case-control stud...

Trajectories of change in depression severity during treatment with antidepressants. Pharmacogenomics of antidepressant drugs.

rs7997012, located in an intron of the HTR2A gene, was found to be associated with a somewhat increased rate of successful response to treatment of depression with the drug citalopram. From this article : 'HTR2A encodes the serotonin 2A receptor, which is downregulated by citalopram. Participants who were homozygous for the A allele had an 18% reduction in absolute risk of having no response to treatment, compared with those homozygous for the other allele.' * See also Anxiety Blog posting [PharmGKB:Curated Risk or phenotype-associated allele: A. Phenotype: Patients with the 5-HTR2A intron 2 (rs7997012) AA genotype suffered from more pronounced side effects compared to carriers of the GA or GG genotype. Study size: 124. Study population/ethnicity: Caucasian; Patients with psychiatric diso...

rs4794067(C;C) and rs4794067(C;T) genotypes for the TBX21 gene are calculated to be at 2.15 fold higher risk (CI: 1.26-3.64) for aspirin-induced asthma (AIA) compared to rs4794067(T;T) homozygotes, based on a study of 72 patients vs 640 controls in a study of a Japanese population. Note that in this population, but perhaps not others, linkage disequilibrium exists between this SNP located upstream of the gene, rs4794067, and a common synonymous SNP located in the first exon, rs2074190, with a predictive accuracy of 92%. On the other hand, rs4794067(C;C) may greatly decrease the risk of lupus if rs17250932(C;C) is also present (at least in Chinese people). And those 2 SNPs also reduce the risk of intractable Graves' disease (at least in Japanese people).

A allele associated with better response to treatment of ADHD with atomoxetine.

G allele associated with better response to treatment of ADHD with atomoxetine.

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C). An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk. This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 pos...

Also known as Arg389, variation at this SNP, located in the ADRB1 gene, may encode either the amino acid glycine or arginine at amino acid position 389 of the corresponding protein, the beta-1 adrenergic receptor (hence why it is frequently called Arg389Gly). This protein is the target of beta blocker drugs, and so how well the drug works to help lower a patients high blood pressure depends in part on this SNP. The status of this SNP is often reported together with the status of SNP rs1801252, which encodes an amino acid variant at position 49 of the same (ADRB1) protein. The rs1801253(G) allele encodes the glycine. One of the best known studies of the effects of these 2 separate SNPs on the average efficacy of the beta blocker metoprolol in lowering blood pressure (BP) can be summarized f...

Also known as Arg389, variation at this SNP, located in the ADRB1 gene, may encode either the amino acid glycine or arginine at amino acid position 389 of the corresponding protein, the beta-1 adrenergic receptor (hence why it is frequently called Arg389Gly). This protein is the target of beta blocker drugs, and so how well the drug works to help lower a patients high blood pressure depends in part on this SNP. The status of this SNP is often reported together with the status of SNP rs1801252, which encodes an amino acid variant at position 49 of the same (ADRB1) protein. The rs1801253(G) allele encodes the glycine. One of the best known studies of the effects of these 2 separate SNPs on the average efficacy of the beta blocker metoprolol in lowering blood pressure (BP) can be summarized f...

part of a three marker haplotype rs737865-rs4680-rs165599 COMT haplotypes at rs737865 and rs165599 may predict a favorable outcome for bupropion treatment for smoking cessation. We have typed the IVS 1 rs737865 and 3' rs615599 sites and also included a novel IVS 1 indel polymorphism. We report that the schizophrenia-associated haplotype is significantly heterogeneous in populations worldwide. may affect non-Hodgkin lymphoma, anxiety-related personality traits Also mentioned in these PMIDs * * * * * * [PharmGKB:Curated This variant may predict a favorable outcome for bupropion treatment for smoking cessation] [OMIM:CATECHOL-O-METHYLTRANSFERASE; COMT]

rs762551, also known as -164A>C or -163C>A, is a SNP encoding the CYP1A2*1F allele of the CYP1A2 gene. For historic reasons, the rs762551(C) allele is considered the wild-type, even though it is the rarer allele in most populations. The rs762551(A) allele is the 'fast metabolizer' allele known as CYP1A2*1F; the (C) allele is by comparison a slower metabolizer of certain substrates (including caffeine). In terms of genotypes, only rs762551(A;A) individuals are considered fast metabolizers. Individuals who are rs762551(A;C) heterozygotes or rs762551(C;C) homozygotes are both considered slow metabolizers. The CYP1A2 gene encodes a member of the cytochrome p450 family of proteins, which metabolize nutrients and drugs. One well known substrate of CYP1A2 is caffeine; individuals who are ca...

rs4410790 and rs2470893 influences habitual caffeine consumption [GWAS:None]

Variation at this SNP, rs2298383, appears to influence how an individual responds to moderate levels (150mg) of caffeine. [PharmGKB:Curated Risk or phenotype-associated allele: rs2298383 T allele. Phenotype: Carriers of 1 or 2 copies of the T allele for rs2298383 showed increased risk of any (OR = 2.23, CI 1.03-5.07, p = 0.03) or gastrointestinal-specific (OR = 2.65, CI = 0.8-11.35, p = 0.09) adverse events. Study size: 309 RA patients, including 147 good MTX responders, 101 MTX inefficacy failures, and 61 adverse event (AE) MTX failures (e.g. gastrointestinal (n = 24), abnormal liver function tests (n = 20), haematological (n = 7), skin rashes (n = 6), and other (n = 17). Study population/ethnicity: Rheumatoid arthritis (RA) patients aged over 18 yrs, of White Caucasian ethnic origin, cl...

Variation at this SNP, rs4822492, appears to influence how an individual responds to moderate levels (150mg) of caffeine.

rs34983651 is one of four SNPs all describing an insertion/deletion polymorphism in the promoter region of the UGT1A1 gene; the primary entry in SNPedia for this set of SNPs is at rs34815109. The other two SNPs (besides rs34815109) that also describe the same polymorphism are: * rs35600288 * rs5839491

rs1051740, also known as Tyr113His, is a SNP in the microsomal epoxide hydrolase EPHX1 gene. severe hypersensitivity syndrome, triggered by carbamazepine in the presence of a concomitant active human herpes virus (HHV) 6 and 7 infection with the allele HLA-A*3101 and rs1051740(C;C) [PharmGKB:Curated Risk or phenotype-associated allele: T. Phenotype: In a logistic regression model adjusted for history of phenytoin use during the first trimester and maternal epilepsy, the maternal EPHX1 113 H (rs1051740 T/C) allele was associated with craniofacial abnormalities in the child. Study size: 157 pregnancies. Study population/ethnicity: phenytoin use during the first trimester and maternal epilepsy. metric(s): per rare allele OR: 2.43, 95% confidence interval (CI): 1.16-5.10, P=0.02. Type of asso...

Also known as Arg389, variation at this SNP, located in the ADRB1 gene, may encode either the amino acid glycine or arginine at amino acid position 389 of the corresponding protein, the beta-1 adrenergic receptor (hence why it is frequently called Arg389Gly). This protein is the target of beta blocker drugs, and so how well the drug works to help lower a patients high blood pressure depends in part on this SNP. The status of this SNP is often reported together with the status of SNP rs1801252, which encodes an amino acid variant at position 49 of the same (ADRB1) protein. The rs1801253(G) allele encodes the glycine. One of the best known studies of the effects of these 2 separate SNPs on the average efficacy of the beta blocker metoprolol in lowering blood pressure (BP) can be summarized f...

rs396991 is a SNP in the Fc fragment of IgG, low affinity IIIa, receptor (CD16a) FCGR3A gene. rs396991(T) encodes the phenylalanine (F) allele, with the (G) allele encoding the variant valine (V). The (V) isoform is considered high-binding to IgG1 and IgG3, while the (F) isoform is considered low-binding. This SNP is known in the literature by many names, including A559C, T559G, 158F/V, and 176F/V. What's the importance of this? FcgRIIIa stimulatory receptors are expressed by most cells in the immune system, including monocytes, dendritic cells, macrophages, natural killer cells, platelets and endothelial cells, as well as a subpopulation of T-cells. FcgR isoforms have been linked to the pathogenic consequences triggered by autoantibodies or immune complexes in autoimmune diseases such as ...

rs1954787, located in an intron of the GRIK4 gene, was found to be associated with a somewhat increased rate of successful response to treatment of depression with the drug citalopram. From the abstract of this article: 'The effect size of (this) GRIK4 marker alone was modest, but homozygote carriers of the treatment-response-associated marker alleles of both the GRIK4 and HTR2A (see rs7997012) genes were 23% less likely to experience nonresponse to (citalopram) treatment relative to participants who did not carry any of these marker alleles.' * See also Anxiety Blog posting [PharmGKB:Curated A study in 1,816 eligible patients from the STAR*D cohort found that genetic variation in a kainic acid-type glutamate receptor is reproducibly associated with response to the antidepressant citalopr...

[GWAS:Treatment response to citalopram]

rs7997012, located in an intron of the HTR2A gene, was found to be associated with a somewhat increased rate of successful response to treatment of depression with the drug citalopram. From this article : 'HTR2A encodes the serotonin 2A receptor, which is downregulated by citalopram. Participants who were homozygous for the A allele had an 18% reduction in absolute risk of having no response to treatment, compared with those homozygous for the other allele.' * See also Anxiety Blog posting [PharmGKB:Curated Risk or phenotype-associated allele: A. Phenotype: Patients with the 5-HTR2A intron 2 (rs7997012) AA genotype suffered from more pronounced side effects compared to carriers of the GA or GG genotype. Study size: 124. Study population/ethnicity: Caucasian; Patients with psychiatric diso...

This SNP, located in an intron of the GRIA3 gene (also known as AMPA3), has been linked in one study to increased thoughts of suicide in patients taking the anti-depressant drug citalopram. The increased risk is calculated to be 1.9x. If the individual is also carrying two rs2518224(C) alleles, i.e. is a rs2518224(C;C) homozygote, the odds ratio for having suicidal thoughts is increased to ~15x (CI: 3.7 - 60.6). [PharmGKB:Curated This SNP in the GRIA3 gene was associated with treatment-emergent suicidal ideation during citalopram therapy in a clinically representative cohort of outpatients with major depressive disorder. DNA samples from 1,915 participants were genotyped.]

rs12248560(T) defines the CYP2C19*17 allele, an ultra fast metabolizer phenotype of the CYP2C19 gene. CYP2C19*17 is likely to lead to less effective drug treatment by, for example, proton pump inhibitors (such as omeprazole) and antidepressants. On the other hand, cancer patients who are CYP2C19*17 carriers are more likely to benefit from tamoxifen treatment, presumably because they break it down more rapidly into the antiestrogenic metabolites endoxifen and 4-hydroxytamoxifen. A study of 1,000+ breast cancer patients showed a 0.77x decreased risk of breast cancer for carriers of a CYP2C19*17 allele (CI: 0.65-0.93, p = 0.005). Analysis of a subgroup of such carriers who were using hormone therapy for ten years or longer showed an even stronger effect (odds ratio 0.57, CI: 0.39-0.83, p = 0....

rs1057868, also known as A503V, is a relatively common variant defining the POR*28 allele of the P450 (cytochrome) oxidoreductase POR gene. The POR gene encodes a protein involved in electron transport of cytochrome p450 enzymes such as CYP3A4, CYP3A5 and CYP3A7. A study of 251 individuals from two independent studies (182 patients treated with methadone and 69 patients with clozapine) for CYP3A activity found that CYP3A SNPs themselves did not predict particularly well inter-individual variability in overall CYP3A activity. However, rs1057868(T;T) individuals had a 1.6x increased CYP3A activity compared to rs1057868(C) carriers (n=182, p=0.004), and the finding was replicated in a second independent dataset. The authors conclude that this POR gene SNP is a better predictor of overall CYP3...

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 3 x 10^-7 for triglycerides as a result of clozapine use

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 3 x 10^-6 for triglycerides as a result of clozapine use

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 4 x 10^-7 for total cholesterol as a result of clozapine use

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 5 x 10^-7 for heart rate as a result of clozapine use

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 3 x 10^-6 for triglycerides as a result of clozapine use

may be associated with clozapine response in treatment-resistant schizophrenic patients [PharmGKB:Curated Patients with diplotype ACCCTC/GTTGCC, genotypes T/T+T/C, or allele T of marker rs742105 showed a better response to clozapine (0.005</=P</=0.049) in a study of patients with refractory schizophrenia.]

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 3 x 10^-6 for triglycerides as a result of clozapine use

rs1414334(C) associated with the metabolic syndrome in patients using *clozapine (OR, 9.20; 95% CI, 1.95-43.45) *risperidone (OR, 5.35; 95% CI, 1.26-22.83) [PharmGKB:Curated Risk or phenotype-associated allele: C. Phenotype: In a replication study, the C allele of HTR2C rs1414334 polymorphism is associated with development of the metabolic syndrome during treatment with antipsychotics. Study size: 186. Study population/ethnicity: 93% Caucasian; European; Dutch; The Netherlands. Significance metric(s): OR = 3.73; 95% CI= 1.29-10.79; P = 0.015. Type of association: CO.]

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C). An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk. This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 pos...

rs12762549 and rs11045585 can be used to predict whether docetaxel will induced leukopenia/neutropenia, according to a study of ~100 Japanese patients. When patients were classified into three groups by the scoring system based on the genotypes of these two SNPs, patients with a score of 1 or 2 were shown to have a significantly higher risk of docetaxel-induced leukopenia/neutropenia as compared to those with a score of 0 (P = 0.0000057; odds ratio [OR], 7.00; 95% CI [confidence interval], 2.95-16.59). This prediction system correctly classified 69.2% of severe leukopenia/neutropenia and 75.7% of non-leukopenia/neutropenia into the respective categories. [PharmGKB:Curated In a case control study using samples from BioBank Japan, the G allele of rs12762549 was associated with docetaxel-ind...

rs396991 is a SNP in the Fc fragment of IgG, low affinity IIIa, receptor (CD16a) FCGR3A gene. rs396991(T) encodes the phenylalanine (F) allele, with the (G) allele encoding the variant valine (V). The (V) isoform is considered high-binding to IgG1 and IgG3, while the (F) isoform is considered low-binding. This SNP is known in the literature by many names, including A559C, T559G, 158F/V, and 176F/V. What's the importance of this? FcgRIIIa stimulatory receptors are expressed by most cells in the immune system, including monocytes, dendritic cells, macrophages, natural killer cells, platelets and endothelial cells, as well as a subpopulation of T-cells. FcgR isoforms have been linked to the pathogenic consequences triggered by autoantibodies or immune complexes in autoimmune diseases such as ...

rs1045642, also known as C3435T, is a SNP located in the ABCB1 gene. It is often studied in conjunction with rs2032582. C3435T has been mentioned by: * A 'Silent' Polymorphism in the MDR1 Gene Changes Substrate Specificity (for example, to verapamil) * (R)-lansoprazole (Prevacid) concentrations are significantly increased in CYP2C19 extensive metabolizers with ABCB1 C3435T C allele. * In a Korean population, plasma concentrations of fexofenadine (Allegra) were 17% lower in 2677AA/3435CC subjects and 47% higher in the 2677TT/3435TT subjects compared to 2677GG/3435CC subjects. * In contrast, in this study no association was observed between the C3435T polymorphism and fexofenadine plasma or urine concentrations in a German Caucasian population. * A meta-analysis including 9 case-control stud...

rs34983651 is one of four SNPs all describing an insertion/deletion polymorphism in the promoter region of the UGT1A1 gene; the primary entry in SNPedia for this set of SNPs is at rs34815109. The other two SNPs (besides rs34815109) that also describe the same polymorphism are: * rs35600288 * rs5839491

rs1045642, also known as C3435T, is a SNP located in the ABCB1 gene. It is often studied in conjunction with rs2032582. C3435T has been mentioned by: * A 'Silent' Polymorphism in the MDR1 Gene Changes Substrate Specificity (for example, to verapamil) * (R)-lansoprazole (Prevacid) concentrations are significantly increased in CYP2C19 extensive metabolizers with ABCB1 C3435T C allele. * In a Korean population, plasma concentrations of fexofenadine (Allegra) were 17% lower in 2677AA/3435CC subjects and 47% higher in the 2677TT/3435TT subjects compared to 2677GG/3435CC subjects. * In contrast, in this study no association was observed between the C3435T polymorphism and fexofenadine plasma or urine concentrations in a German Caucasian population. * A meta-analysis including 9 case-control stud...

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C). An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk. This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 pos...

journal When using lithium as a treatment for Bipolar disorder rs9784453 appears to be associated with time to recurrence of a mood episode while on. By my reading of Figure 3, the median time to recurrence is about 230 days for homozygote carriers with the 'poor response' allele and about 520 days for homozygote carriers with the 'good response' allele, with heterozygote carriers falling in between.

rs396991 is a SNP in the Fc fragment of IgG, low affinity IIIa, receptor (CD16a) FCGR3A gene. rs396991(T) encodes the phenylalanine (F) allele, with the (G) allele encoding the variant valine (V). The (V) isoform is considered high-binding to IgG1 and IgG3, while the (F) isoform is considered low-binding. This SNP is known in the literature by many names, including A559C, T559G, 158F/V, and 176F/V. What's the importance of this? FcgRIIIa stimulatory receptors are expressed by most cells in the immune system, including monocytes, dendritic cells, macrophages, natural killer cells, platelets and endothelial cells, as well as a subpopulation of T-cells. FcgR isoforms have been linked to the pathogenic consequences triggered by autoantibodies or immune complexes in autoimmune diseases such as ...

rs734312, or '''His611Arg''', is a SNP located in exon 8 of the WFS1 gene. An A at this SNP encodes for histamine and a G encodes for arginine. A single study found this SNP to be associated with medication overuse headache (sample consisting of 82 MOH patients). Compared to the His/His genotypes, those carrying two Arg alleles had a significantly higher monthly drug consumption (p = 0.00075) and higher severe depressive scores on the Beck Depression Index (p = 0.003). His611Arg is also potentially implicated in type-2 diabetes. In a sample of 3,234 high diabetes risk individuals, Arg/Arg carriers had a generally higher insulinogenic index and lower insulin sensitivity levels, while His allele carriers followed the opposite pattern. Arg/Arg carriers also responded strongly to metformin and...

rs1057868, also known as A503V, is a relatively common variant defining the POR*28 allele of the P450 (cytochrome) oxidoreductase POR gene. The POR gene encodes a protein involved in electron transport of cytochrome p450 enzymes such as CYP3A4, CYP3A5 and CYP3A7. A study of 251 individuals from two independent studies (182 patients treated with methadone and 69 patients with clozapine) for CYP3A activity found that CYP3A SNPs themselves did not predict particularly well inter-individual variability in overall CYP3A activity. However, rs1057868(T;T) individuals had a 1.6x increased CYP3A activity compared to rs1057868(C) carriers (n=182, p=0.004), and the finding was replicated in a second independent dataset. The authors conclude that this POR gene SNP is a better predictor of overall CYP3...

rs1045642, also known as C3435T, is a SNP located in the ABCB1 gene. It is often studied in conjunction with rs2032582. C3435T has been mentioned by: * A 'Silent' Polymorphism in the MDR1 Gene Changes Substrate Specificity (for example, to verapamil) * (R)-lansoprazole (Prevacid) concentrations are significantly increased in CYP2C19 extensive metabolizers with ABCB1 C3435T C allele. * In a Korean population, plasma concentrations of fexofenadine (Allegra) were 17% lower in 2677AA/3435CC subjects and 47% higher in the 2677TT/3435TT subjects compared to 2677GG/3435CC subjects. * In contrast, in this study no association was observed between the C3435T polymorphism and fexofenadine plasma or urine concentrations in a German Caucasian population. * A meta-analysis including 9 case-control stud...

rs2032582, also known as G2677T, is a nonsynonymous SNP located in exon 21 of the ABCB1 gene. G2677 is also known as Ala893Thr. It is often studied in conjunction with rs1045642. The rs2032582(T) variant allele yields a 2.6 fold higher risk of developing lung cancer, and in particular, the type of lung cancer called squamous cell carcinoma (CI 1.7-4.0, P < .001). There appears to be little gene dosage effect, since homozygous rs2032582(T;T) carriers shoulder almost all the risk (odds ratio 6.75 compared to (A;A) homozygotes, CI 3.0-15.2). This risk is also independent of an individual's history of smoking. A study of 98 methadone-maintaining patients concluded that the higher (>150 mg/day) and lower (< or =150 mg/day) methadone dose groups differed significantly in their rs1128503...

rs1128503 is a SNP in the transporter P-glycoprotein (P-gp) 170, encoded by the ABCB1 (also known as MDR1) gene. Methadone is a substrate of this protein, so variants may affect the efficacy and optimal dosage of this drug as used for treating opiate dependence. A study of 98 methadone-maintaining patients concluded that the higher (>150 mg/day) and lower (< or =150 mg/day) methadone dose groups differed significantly in their rs1128503 status (experiment-wise p = 0.0325). Furthermore, individuals with the 3-locus genotype pattern (T;T)-(T;T)-(T;T) for SNPs rs1045642, rs2032582 and rs1128503, respectively, had an approximately 5-fold chance of requiring the 'higher' methadone dose, while individuals heterozygous for these three SNPs have an approximately 3-fold chance of stabilizing ...

This SNP, located in the 3' UTR of the CSNK1E gene, has been associated with sensitivity to the acute effects of d-amphetamine. Sensitivity to psychoactive drugs has been associated with potential to develop drug abuse. The more sensitive allele is rs135745(C). However, in a separate study, this SNP did not affect susceptibility to methamphetamine dependence or psychosis, at least in a Japanese population. Note: orientation relative to dbSNP needs to be confirmed/checked.

Also known as Arg389, variation at this SNP, located in the ADRB1 gene, may encode either the amino acid glycine or arginine at amino acid position 389 of the corresponding protein, the beta-1 adrenergic receptor (hence why it is frequently called Arg389Gly). This protein is the target of beta blocker drugs, and so how well the drug works to help lower a patients high blood pressure depends in part on this SNP. The status of this SNP is often reported together with the status of SNP rs1801252, which encodes an amino acid variant at position 49 of the same (ADRB1) protein. The rs1801253(G) allele encodes the glycine. One of the best known studies of the effects of these 2 separate SNPs on the average efficacy of the beta blocker metoprolol in lowering blood pressure (BP) can be summarized f...

rs4680 (Val158Met) is a well studied SNP in the COMT gene. 23andMe blog summarizes them as *rs4680(A) = Worrier. Met, more exploratory, lower COMT enzymatic activity, therefore higher dopamine levels; lower pain threshold, enhanced vulnerability to stress, yet also more efficient at processing information under most conditions *rs4680(G) = Warrior. Val, less exploratory, higher COMT enzymatic activity, therefore lower dopamine levels; higher pain threshold, better stress resiliency, albeit with a modest reduction in executive cognition performance under most conditions Roughly speaking, the predominant wisdom (known colloquially as the warrior/worrier hypothesis; summary at ) posits that people with Val alleles have increased COMT activity and lower prefrontal extracellular dopamine compar...

Also known as Arg389, variation at this SNP, located in the ADRB1 gene, may encode either the amino acid glycine or arginine at amino acid position 389 of the corresponding protein, the beta-1 adrenergic receptor (hence why it is frequently called Arg389Gly). This protein is the target of beta blocker drugs, and so how well the drug works to help lower a patients high blood pressure depends in part on this SNP. The status of this SNP is often reported together with the status of SNP rs1801252, which encodes an amino acid variant at position 49 of the same (ADRB1) protein. The rs1801253(G) allele encodes the glycine. One of the best known studies of the effects of these 2 separate SNPs on the average efficacy of the beta blocker metoprolol in lowering blood pressure (BP) can be summarized f...

People with one or two copies of the G allele at this SNP are 3.5 times more likely to suffer liver injury than TT carriers when taking the prescription nonsteroidal anti-inflammatory drug (NSAID) lumiracoxib. This new pain medication was approved in Europe in late 2006, but because of a higher incidence of liver injury and patient deaths than among patients using other NSAIDs, it was withdrawn from the market in most countries. It is still sold in some countries under the brand names Prexige and Joicela.

This SNP is associated with a higher risk of liver injury in patients taking the nonsteroidal anti-inflammatory drug lumiracoxib, which has been withdrawn from most markets.

rs6280, also known as '''Ser9Gly''', is a SNP in the dopamine receptor D3 DRD3 gene. The rs6280(C) allele encodes a glycine, and the (T) allele encodes a serine (in dbSNP orientation). In a study of 88 patients being treated for schizophrenia with olanzapine, those who were rs6280(C;C) homozygotes had greater positive symptom remission (endpoint rating of minimal or none on all PANSS clinical response positive items, 39.1%), as compared with (C;T) or (T;T) genotypes (13.8%; p = 0.033). Ser9Gly has been implicated in executive function in some studies, but the results are conflicting. * Gly/Gly carriers showed significantly (p = 0.002) poorer performance than Ser/Ser carriers on executive functioning tasks in a somewhat small Caucasian sample (84 patients with first-episode psychosis and 85...

rs12248560(T) defines the CYP2C19*17 allele, an ultra fast metabolizer phenotype of the CYP2C19 gene. CYP2C19*17 is likely to lead to less effective drug treatment by, for example, proton pump inhibitors (such as omeprazole) and antidepressants. On the other hand, cancer patients who are CYP2C19*17 carriers are more likely to benefit from tamoxifen treatment, presumably because they break it down more rapidly into the antiestrogenic metabolites endoxifen and 4-hydroxytamoxifen. A study of 1,000+ breast cancer patients showed a 0.77x decreased risk of breast cancer for carriers of a CYP2C19*17 allele (CI: 0.65-0.93, p = 0.005). Analysis of a subgroup of such carriers who were using hormone therapy for ten years or longer showed an even stronger effect (odds ratio 0.57, CI: 0.39-0.83, p = 0....

rs4680 (Val158Met) is a well studied SNP in the COMT gene. 23andMe blog summarizes them as *rs4680(A) = Worrier. Met, more exploratory, lower COMT enzymatic activity, therefore higher dopamine levels; lower pain threshold, enhanced vulnerability to stress, yet also more efficient at processing information under most conditions *rs4680(G) = Warrior. Val, less exploratory, higher COMT enzymatic activity, therefore lower dopamine levels; higher pain threshold, better stress resiliency, albeit with a modest reduction in executive cognition performance under most conditions Roughly speaking, the predominant wisdom (known colloquially as the warrior/worrier hypothesis; summary at ) posits that people with Val alleles have increased COMT activity and lower prefrontal extracellular dopamine compar...

rs10062446 is one of two SNPs in the IL4 gene that is (somewhat) associated with penicillin allergy, based on a relatively small study of 23 cases and 39 controls, t the other SNP being rs11740584.

rs11740584 is one of two SNPs in the IL4 gene that is (somewhat) associated with penicillin allergy, based on a relatively small study of 23 cases and 39 controls, t the other SNP being rs10062446.

rs4570625 and rs4565946 linked to the pathogenesis of early-onset obsessive compulsive disorder Tourette's Syndrome

rs4680 (Val158Met) is a well studied SNP in the COMT gene. 23andMe blog summarizes them as *rs4680(A) = Worrier. Met, more exploratory, lower COMT enzymatic activity, therefore higher dopamine levels; lower pain threshold, enhanced vulnerability to stress, yet also more efficient at processing information under most conditions *rs4680(G) = Warrior. Val, less exploratory, higher COMT enzymatic activity, therefore lower dopamine levels; higher pain threshold, better stress resiliency, albeit with a modest reduction in executive cognition performance under most conditions Roughly speaking, the predominant wisdom (known colloquially as the warrior/worrier hypothesis; summary at ) posits that people with Val alleles have increased COMT activity and lower prefrontal extracellular dopamine compar...

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C). An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk. This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 pos...

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C). An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk. This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 pos...

rs1045642, also known as C3435T, is a SNP located in the ABCB1 gene. It is often studied in conjunction with rs2032582. C3435T has been mentioned by: * A 'Silent' Polymorphism in the MDR1 Gene Changes Substrate Specificity (for example, to verapamil) * (R)-lansoprazole (Prevacid) concentrations are significantly increased in CYP2C19 extensive metabolizers with ABCB1 C3435T C allele. * In a Korean population, plasma concentrations of fexofenadine (Allegra) were 17% lower in 2677AA/3435CC subjects and 47% higher in the 2677TT/3435TT subjects compared to 2677GG/3435CC subjects. * In contrast, in this study no association was observed between the C3435T polymorphism and fexofenadine plasma or urine concentrations in a German Caucasian population. * A meta-analysis including 9 case-control stud...

This SNP in the ACE gene, also known as G12269A, is reported to influence how quickly African Americans respond to the anti-hypertensive drug ramipril. rs4344(A;A) and rs4344(G;G) homozygotes are able to reach lower blood pressure levels upon treatment with ramipril sooner than rs4344(A;G) heterozygotes. The odds ratio reported for this study, comparing both homozygotes to heterozygotes, is 1.86 (CI: 1.32-3.23). Note that this SNP is in almost complete linkage disequilibrium with the insertion/deletion ACE gene SNP.

rs396991 is a SNP in the Fc fragment of IgG, low affinity IIIa, receptor (CD16a) FCGR3A gene. rs396991(T) encodes the phenylalanine (F) allele, with the (G) allele encoding the variant valine (V). The (V) isoform is considered high-binding to IgG1 and IgG3, while the (F) isoform is considered low-binding. This SNP is known in the literature by many names, including A559C, T559G, 158F/V, and 176F/V. What's the importance of this? FcgRIIIa stimulatory receptors are expressed by most cells in the immune system, including monocytes, dendritic cells, macrophages, natural killer cells, platelets and endothelial cells, as well as a subpopulation of T-cells. FcgR isoforms have been linked to the pathogenic consequences triggered by autoantibodies or immune complexes in autoimmune diseases such as ...

rs705381, also known as -161C/T and -162A/G, is a SNP in the upstream promoter region of the PON1 gene. (The assumption of equivalence between these names is based on the results of searching for rs705381 in the Variant Name Mapper.) In a study of 101 mostly Caucasian patients prescribed the atypical antipsychotic risperidone, carriers of a rs705381(C) allele were less likely to gain significant weight compared to rs705381(T;T) carriers, as assessed by physiogenomic analysis of corresponding weight profiles. Two other SNPs, rs8179183 and rs6837793, were also significantly associated with weight profiles in these patients. In a study of 461 participants in the HERITAGE cohort (172 African-American, 289 Caucasian), the combination of rs705381 with 'PON-126' (RS ID unknown) were found to sign...

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 3 x 10^-7 for hip circumference as a result of risperidone use

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 2 x 10^-6 for hemoglobin A1c as a result of risperidone use

rs167771 was significantly associated with autism spectrum disorder in a study of 144 patients. G allele associated with increased extra-pyramidal symptom risk as a result of risperidone treatment in a study of 321 psychiatric inpatients (81 presenting with EPS and 189 without) [PharmGKB:Curated Risk or phenotype-associated allele: G. Phenotype: The G variant of rs167771 was associated with increased risk for extrapyramidal symptoms in psychiatric patients receiving risperidone. Study size: 132. Study population/ethnicity: Patients with Schizophrenia or Bipolar disorder receiving antipsychotics; Caucasians; Spain; Catalonia. Significance metric(s): OR = 3.3; p = 0.00013. Type of association: PD.]

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 3 x 10^-7 for hip circumference as a result of risperidone use

rs705381, also known as -161C/T and -162A/G, is a SNP in the upstream promoter region of the PON1 gene. (The assumption of equivalence between these names is based on the results of searching for rs705381 in the Variant Name Mapper.) In a study of 101 mostly Caucasian patients prescribed the atypical antipsychotic risperidone, carriers of a rs705381(C) allele were less likely to gain significant weight compared to rs705381(T;T) carriers, as assessed by physiogenomic analysis of corresponding weight profiles. Two other SNPs, rs8179183 and rs6837793, were also significantly associated with weight profiles in these patients. In a study of 461 participants in the HERITAGE cohort (172 African-American, 289 Caucasian), the combination of rs705381 with 'PON-126' (RS ID unknown) were found to sign...

rs2494732 is a SNP in the AKT1 gene, encoding one of three serine/threonine-protein kinases regulating numerous processes such as cell survival, growth and angiogenesis. Medical conditions that may be linked to the rarer (minor) rs2494732(C) allele include drug response, schizophrenia, and drug-related psychoses, in particuler, cannabis-related psychosis. A case-control study of 489 first-episode psychosis patients concluded that while rs2494732 was not associated with an increased risk of a psychotic disorder, with lifetime cannabis use, or with frequency of use, there was a significant association between psychosis and cannabis use. rs2494732(C;C) individuals with a history of cannabis use had an increased likelihood of a psychotic disorder (odds ratio 2.18, CI: 1.1 - 4.3) when compared ...

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 7 x 10^-7 for hemoglobin A1c as a result of risperidone use

gwas, among 738 schizophrenics genotyped for 492K SNPs, this SNP attained a p-val of 5 x 10^-7 for hemoglobin A1c as a result of risperidone use

rs1414334(C) associated with the metabolic syndrome in patients using *clozapine (OR, 9.20; 95% CI, 1.95-43.45) *risperidone (OR, 5.35; 95% CI, 1.26-22.83) [PharmGKB:Curated Risk or phenotype-associated allele: C. Phenotype: In a replication study, the C allele of HTR2C rs1414334 polymorphism is associated with development of the metabolic syndrome during treatment with antipsychotics. Study size: 186. Study population/ethnicity: 93% Caucasian; European; Dutch; The Netherlands. Significance metric(s): OR = 3.73; 95% CI= 1.29-10.79; P = 0.015. Type of association: CO.]

G allele associated with schizophrenia among 120 (likely Japanese) first-episode neuroleptic-naive schizophrenics treated with risperidone genotyped for 30 variants in misc. dopamine and serotonin (receptors and otherwise) two SNPs in DRD2 (rs1799989 and rs1800497) and two SNPs in AKT1 (rs3803300 and rs2494732) were significant predictors of treatment response to risperidone The ancestral allele is G in the dbSNP database. [PharmGKB:Curated This SNP is significant predictor of treatment response to risperidone in first-episode schizophrenia.]

rs396991 is a SNP in the Fc fragment of IgG, low affinity IIIa, receptor (CD16a) FCGR3A gene. rs396991(T) encodes the phenylalanine (F) allele, with the (G) allele encoding the variant valine (V). The (V) isoform is considered high-binding to IgG1 and IgG3, while the (F) isoform is considered low-binding. This SNP is known in the literature by many names, including A559C, T559G, 158F/V, and 176F/V. What's the importance of this? FcgRIIIa stimulatory receptors are expressed by most cells in the immune system, including monocytes, dendritic cells, macrophages, natural killer cells, platelets and endothelial cells, as well as a subpopulation of T-cells. FcgR isoforms have been linked to the pathogenic consequences triggered by autoantibodies or immune complexes in autoimmune diseases such as ...

rs396991 is a SNP in the Fc fragment of IgG, low affinity IIIa, receptor (CD16a) FCGR3A gene. rs396991(T) encodes the phenylalanine (F) allele, with the (G) allele encoding the variant valine (V). The (V) isoform is considered high-binding to IgG1 and IgG3, while the (F) isoform is considered low-binding. This SNP is known in the literature by many names, including A559C, T559G, 158F/V, and 176F/V. What's the importance of this? FcgRIIIa stimulatory receptors are expressed by most cells in the immune system, including monocytes, dendritic cells, macrophages, natural killer cells, platelets and endothelial cells, as well as a subpopulation of T-cells. FcgR isoforms have been linked to the pathogenic consequences triggered by autoantibodies or immune complexes in autoimmune diseases such as ...

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C). An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk. This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 pos...

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C). An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk. This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 pos...

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

rs2306283 (Asn130Asp/N130D, A388G/388A>G) is a SNP within SLCO1B1 (Solute carrier organic anion transporter family member 1B1). A G at this location denotes the SLCO1B1*1B allele. among 8 healthy volunteers with *1B/*1B genotypes and 16 with the *1A/*1A genotype, *1B/*1B genotype associated with reduced plasma concentrations of repaglinide (but not nateglinide) consistent with increased hepatic uptake by SLCO1B1 (but w/ limited effects on nateglinide pharmacokinetics) news rs2306283 influences statin-related myopathy risk Genotyping panel for assessing response to cancer chemotherapy. Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism...

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C). An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk. This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 pos...

[GWAS:Response to statin therapy]

[GWAS:Response to statin therapy]

Genetic variation in 3-hydroxy-3-methylglutaryl CoA reductase modifies the chemopreventive activity of statins for colorectal cancer by Lipkin SM, Chao EC, Moreno V, Rozek LS, Rennert H, Pinchev M, Dizon D, Rennert G, Kopelovich L, Gruber SB in Cancer Prev Res (Phila Pa). 2010 May;3(5):597-603. The above study shows that genotyping for HMGCR rs1265464 may help identify the subset of individuals who are most likely to achieve a CRC risk reduction and cholesterol lowering with statins. Compared with individuals not taking statins, the unadjusted odds ratio of colorectal cancer among rs12654264(A;A) statin users was 0.3 (CI: 0.18-0.51) and among rs12654264(T;T) statin users, 0.66 (CI: 0.41-1.06, p-interaction 0.0012). Their data may advance the development of personalized statin use for reduc...

rs12248560(T) defines the CYP2C19*17 allele, an ultra fast metabolizer phenotype of the CYP2C19 gene. CYP2C19*17 is likely to lead to less effective drug treatment by, for example, proton pump inhibitors (such as omeprazole) and antidepressants. On the other hand, cancer patients who are CYP2C19*17 carriers are more likely to benefit from tamoxifen treatment, presumably because they break it down more rapidly into the antiestrogenic metabolites endoxifen and 4-hydroxytamoxifen. A study of 1,000+ breast cancer patients showed a 0.77x decreased risk of breast cancer for carriers of a CYP2C19*17 allele (CI: 0.65-0.93, p = 0.005). Analysis of a subgroup of such carriers who were using hormone therapy for ten years or longer showed an even stronger effect (odds ratio 0.57, CI: 0.39-0.83, p = 0....

rs7439366, also known as Y268H, is a SNP in the UGT2B7 gene encoding the 2B7 UDP-Glucuronosyltransferase, active primarily in the liver. The rs7439366(C) allele encodes a histidine (H) at amino acid 268, and the (T) allele encodes a tyrosine (Y). Most publications refer to the histidine as the wild-type (more common) allele. In a study of glucuronidation activity of human livers, rs7439366(T;T) individuals had 28% lower activity than rs7439366(C;C) individuals with respect to O-glucuronidation of tamoxifen metabolites 4-OH-tamoxifen and endoxifen. The authors suggest this may help explain interindividual variability (beyond CYP2D6 variation) in tamoxifen metabolism - and therefore the effectiveness of tamoxifen in reducing breast cancer recurrence. [PharmGKB:Curated Risk or phenotype-asso...

rs12762549 and rs11045585 can be used to predict whether docetaxel will induced leukopenia/neutropenia, according to a study of ~100 Japanese patients. When patients were classified into three groups by the scoring system based on the genotypes of these two SNPs, patients with a score of 1 or 2 were shown to have a significantly higher risk of docetaxel-induced leukopenia/neutropenia as compared to those with a score of 0 (P = 0.0000057; odds ratio [OR], 7.00; 95% CI [confidence interval], 2.95-16.59). This prediction system correctly classified 69.2% of severe leukopenia/neutropenia and 75.7% of non-leukopenia/neutropenia into the respective categories. [PharmGKB:Curated In a case control study using samples from BioBank Japan, the G allele of rs12762549 was associated with docetaxel-ind...

The rs2832407(C) allele has inconsistently been linked to alcoholism and its treatment. Nonetheless, a 2014 report based on 138 patients concludes that rs2832407(C;C) individuals show a greater decrease than non-carriers (of a rs2832407(C) allele) in the number of heavy drinking days per week when taking topiramate at a dose of 200 mg/daily. A follow-up study done 3 and 6 months after treatment seemed to mostly confirm the topiramate benefit preferentially to rs2832407(C;C) individuals.

rs2108622 is a SNP in the cytochrome P450, family 4, subfamily F, polypeptide 2 CYP4F2 gene. In the males rs2108622(G) was significantly higher in cerebral infarction patients (P = 0.025) A study of Italian patients concluded that rs2108622(T;T) patients require 5.49 mg/day of warfarin versus 2.93 mg/day for (C;C) patients. Analysis of variance indicates that about 7% of mean weekly warfarin dose variance is explained by CYP4F2 genotype. A study of 370 Brazilian ('admixed') patients concludes that prospective CYP4F2 genotyping is of little value to these patients, presumably due to ethnic-based differences. [PharmGKB:Curated Risk or phenotype-associated allele: no allelic association. Phenotype: Improved pharmacogenetic algorithm-based warfarin dosing. Study size: 370. Study population/et...

associations with higher warfarin dose, namely, VKORC1-8191 (rs61162043, P = 0.0041) and 18786 in CYP2C9 (rs7089580, P = 0.035) independent of the previous associations with these genes

associations with higher warfarin dose, namely, VKORC1-8191 (rs61162043, P = 0.0041) and 18786 in CYP2C9 (rs7089580, P = 0.035) independent of the previous associations with these genes

rs20455, often called Arg719 or 719Arg, is a reasonably well studied SNP in the KIF6 gene. The risk allele (encoding the arginine at position 719) is rs20455(C). An extensive 2010 meta-analysis, including over 17,000 patients, suggests this variant does not significantly influence coronary artery disease risk. This SNP is one of the 5 used by Celera's genetic risk score (GRS) for coronary heart disease (CHD). *rs20455, in the KIF6 gene *rs3900940, in the MYH15 gene *rs7439293, in the PALLD gene *rs2298566, in the SNX19 gene *rs1010, in the VAMP8 gene For each of the five variants, the GRS was increased by 1 if the subject was homozygous for the risk variant, unchanged if heterozygous, and decreased by 1 if the individual did not carry the variant. Therefore, individuals carrying all 10 pos...