Gene-drug interactions (data source: DGIdb)
Gene Name Entrez ID Drug Name Chembl ID Interaction Types Sources publications
HFE 3077 EPOETIN ALFA CHEMBL1201565 PharmGKB

Variant-drug associations (data source: PharmGKB)
Gene Name Variant Alleles Chemical Phenotype Category Significance Notes Sentence Publications Annotation ID
HFE rs1799945 G epoetin alfa "dosage","metabolism/PK" yes Required dosage to maintain a fixed hemoglobin target level was lower. Required iron dose was also lower in carriers, but not significantly. Please note: carriers of this mutation or the rs1800562 C282Y mutation were pooled together. The alleles were not specified in the study, however G allele corresponds to the H63D (CAT>GAT) loss of function mutation. Allele G is associated with decreased dose of epoetin alfa in people with hemodialysis treatment as compared to allele C. 18025780 769171145
HFE rs1799945 G atenolol efficacy no Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in systolic blood pressure (SBP) and diastolic blood pressure (DBP) after 9 weeks of treatment. Allele G is not associated with response to atenolol in people with Hypertension as compared to allele C. 23087401 1183491501
HFE rs1800562 A epoetin alfa "dosage","metabolism/PK" yes Required dosage to maintain a fixed hemoglobin target level was lower. Required iron dose was also lower in carriers, but not significantly. Please note: carriers of this mutation or the rs1799945 H63D mutation were pooled together. The alleles were not specified in the study, however the A allele corresponds to the C282Y (TGC>TAC) loss of function mutation. Allele A is associated with decreased dose of epoetin alfa in people with hemodialysis treatment as compared to allele G. 18025780 769171171
HFE rs2071303 CC + CT adalimumab efficacy yes Alleles given as A and G. Based on inflammatory bowel disease questionnaire at week 20. Also looked at 4, 12, and 30 weeks after initiation of treatment. Response defined as increased in IBDQ of more than 22 points, or as IBDQ higher than 170 points. Genotypes CC + CT are associated with increased response to adalimumab in people with Crohn Disease as compared to genotype TT. 27115882 1447983363