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
HLA-C HLA-C*06:02:01:01 *06:02:01:01 ustekinumab efficacy yes After 4 weeks of treatment, 35.7% of patients who carried the HLA-C*06:02 allele responded to treatment with ustekinumab (i.e. a 75% reduction in The Psoriasis Area and Severity Index (PASI) score from baseline), while only 4.3% of those who did not carry the allele responded. At 12 weeks, the percentages were 96.4% and 65.2%. At 28 weeks the percentages were 96.3% and 72.7%. At 40 weeks the percentages were 100% and 73.7%. Ustekinumab was administered at weeks 0 and 4, and every 12 weeks thereafter. The authors analyze and then note that this association is not due to PASI score at baseline or whether the patient had an early onset of psoriasis. NOTE: In some cases, the authors report odds ratios (OR) outside of the reported 95% confidence interval (CI). Numbers cited in this annotation are taken directly from the paper. HLA-C *06:02:01:01 is associated with increased response to ustekinumab in people with Psoriasis. 23521149 1184168621
HLA-C HLA-C*06:02:01:01 *06:02:01:01 ustekinumab efficacy yes After 12 weeks of treatment, 85.7% of patients who carried the HLA-C*06:02 allele responded to treatment with ustekinumab (i.e. a 90% reduction in The Psoriasis Area and Severity Index (PASI) score from baseline), while only 56.5% of those who did not carry the allele responded. At 40 weeks, the percentages were 92.3% and 57.9%. Ustekinumab was administered at weeks 0 and 4, and every 12 weeks thereafter. The authors analyze and then note that this association is not due to PASI score at baseline or whether the patient had an early onset of psoriasis. HLA-C *06:02:01:01 is associated with increased response to ustekinumab in people with Psoriasis. 23521149 1184168659
HLA-C HLA-C*01:02:01, HLA-C*02:02:01, HLA-C*03:02, HLA-C*04:01:01:01, HLA-C*05:01:01:01, HLA-C*06:02:01:01, HLA-C*07:01:01, HLA-C*08:01, HLA-C*12:02:01, HLA-C*14:02:01, HLA-C*15:02:01, HLA-C*16:01:01, HLA-C*17:01:01:01 *02:02:01 + *04:01:01:01 + *05:01:01:01 + *06:02:01:01 + *15:02:01 + *17:01:01:01 peginterferon alfa-2b efficacy yes HLA-C alleles are grouped in the paper as C1 and C2. C1 alleles are written as Cw*01, Cw*03, Cw*07, Cw*08, Cw*12, Cw*14 and Cw*16. C2 alleles are written as Cw*02, Cw*04, Cw*05, Cw*06, Cw*15 and Cw*17. The authors state that patients who are homozygous for HLA-C2 (i.e. they have two alleles from group C2) are less likely to clear hepatitis C virus upon treatment than patients who are HLA-C1 homozygous or are HLA-C1/C2 heterozygous. HLA-C *02:02:01 + *04:01:01:01 + *05:01:01:01 + *06:02:01:01 + *15:02:01 + *17:01:01:01 is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to HLA-C *01:02:01 + *03:02 + *07:01:01 + *08:01 + *12:02:01 + *14:02:01 + *16:01:01. 21931540 1448996035
HLA-C rs12191877 CT + TT Tumor necrosis factor alpha efficacy yes Moderate-to-severe plaque psoriasis. Patients were considered responders if they achieved a 75% improvement over their baseline Psoriasis Area and Severity Index (PASI) (PASI75). PASI data was collected at 3 months, 6 months and 1 year. This variant was significantly associated with response at 3 months. Genotypes CT + TT are associated with increased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Psoriasis as compared to genotype CC. 27670765 1448522689
HLA-C HLA-C*06:02:01:01 *06:02:01:01 methotrexate efficacy yes The authors tested patients for presence of HLA-Cw6 serotype, therefore including all *06 alleles. Patients with moderate to severe psoriasis included. Primary endpoint was a decrease in Psoriasis Area Severity Index (PASI) score of 75 (75% decrease in score) after 12 weeks of MTX treatment. Patients with a PASI score above 50 were considered responders while those below were considered non-responders. HLA-C *06:02:01:01 is associated with increased response to methotrexate in people with Psoriasis. 28444425 1448616662
HLA-C rs9366772 A allopurinol efficacy no Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. Allele A is associated with increased response to allopurinol as compared to allele G. 30924126 1450375653