Gene-drug interactions (data source: DGIdb)
Gene Name Entrez ID Drug Name Chembl ID Interaction Types Sources publications

Variant-drug associations (data source: PharmGKB)
Gene Name Variant Alleles Chemical Phenotype Category Significance Notes Sentence Publications Annotation ID
GAPVD1 rs10819043 T interferon beta-1a efficacy yes In the discovery GWAS stage, the Bonferroni adjusted statistical significance threshold was <=1.74E-10, however no SNPs reached this level, likely due to sample size limitations, and so the significance level was set at <=1.0E-3. In the validation stage, the significance level was set at <0.05, and SNPs that did not have the same direction of response as the discovery stage were considered spurious associations and omitted from further analysis. In further validation in a cohort treated with glutiramer acetate (GA), this SNP was not associated with response. Response was defined as no relapses and no change on Kurtzke Expanded Disability Status Scale (EDSS) scores in the 2 years after starting interferon beta therapy. Non-reponse defined as having >= 2 relapses or an increase in EDSS by at least 1 point in the 2 years follow-up after a minimum duration of 6 months post initiation of therapy. Allele T is associated with increased response to interferon beta-1a and interferon beta-1b in people with Multiple Sclerosis as compared to allele C. 27001119 1447959629
GAPVD1 rs10760397 C interferon beta-1a efficacy yes In the discovery GWAS stage, the Bonferroni adjusted statistical significance threshold was <=1.74E-10, however no SNPs reached this level, likely due to sample size limitations, and so the significance level was set at <=1.0E-3. In the validation stage, the significance level was set at <0.05, and SNPs that did not have the same direction of response as the discovery stage were considered spurious associations and omitted from further analysis. In further validation in a cohort treated with glutiramer acetate (GA), this SNP was not associated with response. Response was defined as no relapses and no change on Kurtzke Expanded Disability Status Scale (EDSS) scores in the 2 years after starting interferon beta therapy. Non-reponse defined as having >= 2 relapses or an increase in EDSS by at least 1 point in the 2 years follow-up after a minimum duration of 6 months post initiation of therapy. Allele C is associated with increased response to interferon beta-1a and interferon beta-1b in people with Multiple Sclerosis as compared to allele T. 27001119 1447959640
GAPVD1 rs2291858 G interferon beta-1a efficacy yes In the discovery GWAS stage, the Bonferroni adjusted statistical significance threshold was <=1.74E-10, however no SNPs reached this level, likely due to sample size limitations, and so the significance level was set at <=1.0E-3. In the validation stage, the significance level was set at <0.05, and SNPs that did not have the same direction of response as the discovery stage were considered spurious associations and omitted from further analysis. In further validation in a cohort treated with glutiramer acetate (GA), this SNP was not associated with response. Response was defined as no relapses and no change on Kurtzke Expanded Disability Status Scale (EDSS) scores in the 2 years after starting interferon beta therapy. Non-reponse defined as having >= 2 relapses or an increase in EDSS by at least 1 point in the 2 years follow-up after a minimum duration of 6 months post initiation of therapy. Please note that alleles have been complemented to the plus chromosomal strand. Allele G is associated with increased response to interferon beta-1a and interferon beta-1b in people with Multiple Sclerosis as compared to allele A. 27001119 1447959676