Table 1. Pharmacologically and clinically relevant variants in which WETH had statistically significant allele frequency differences with at least three of the four other HapMap African populations.
WETH Frq | MKK | ASW | LWK | YRI | Predicted function | ||||||||||||
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SNP | Chr: pos | A1 | A2 | Frq | P | Frq | P | Frq | P | Frq | P | Gene | Drugs | Diseases | Effect | ||
rs2242046* | 15:38298203 | A | G | 0.46 | 0.23 | 7.54×10−3 | 0.10 | 1.17×10−5 | 0.06 | 1.19×10−6 | 0.00 | 9.42×10−12 | SLC28A1 | Missense | Gemcitabine | NSCC | Dose-related toxicity |
rs7294** | 16:31102321 | A | G | 0.20 | 0.52 | 1.93×10−3 | 0.53 | 9.40×10−4 | 0.45 | 0.02 | 0.59 | 1.30×10−5 | VKORC1 | 3′UTR | Warfarin, Acenocoumarol, Coumarin | Arteriosclerosis, Heart diseases, Myocardial infarction, Peripheral vascular diseases, Pulmonary embolism, Stroke, Thromboembolism | Dose-related toxicity |
rs2108622 | 19:15990431 | T | C | 0.37 | 0.21 | ns | 0.09 | 2.01×10−3 | 0.11 | 1.28×10−2 | 0.05 | 2.31×10−5 | CYP4F2 | Missense | Warfarin, Acenocoumarol, Phenprocoumon, Fluindione | Arteriosclerosis, Heart diseases, Myocardial infarction, Peripheral vascular diseases, Pulmonary embolism, Stroke, Thromboembolism | Dose-related toxicity |
rs3764006** | 12:21054369 | G | A | 0.33 | 0.48 | ns | 0.63 | 7.94×10−3 | 0.73 | 4.58×10−6 | 0.83 | 6.23×10−10 | SLCO1B3 | Synonymous | Rosuvastatin | Dyslipidemia | Clearance |
rs20455 | 6:39325078 | A | G | 0.55 | 0.47 | ns | 0.24 | 4.12×10−3 | 0.22 | 1.20×10−3 | 0.10 | 8.25×10−9 | KIF6 | Missense | Pravastatin | Myocardial infarction | Efficacy |
rs1799929* | 8:18257994 | T | C | 0.62 | 0.45 | ns | 0.26 | 9.73×10−5 | 0.33 | 1.48×10−2 | 0.20 | 1.56×10−6 | NAT2 | Synonymous | Isoniazid, Pyrazinamide, Rifampin, Sulfamethoxazole, Trimethoprim | Tuberculosis | Doserelated toxicity |
rs533486* | 7:99440694 | T | C | 0.38 | 0.39 | ns | 0.11 | 6.96×10−3 | 0.09 | 1.05×10−3 | 0.04 | 3.02×10−6 | CYP3A43 | Intronic | Doceta×el | Neoplasms | Drug clearance |
rs7483* | 1:110279701 | T | C | 0.36 | 0.10 | 9.64×10−3 | 0.10 | 9.64×10−3 | 0.15 | ns | 0.03 | 3.28×10−6 | GSTM3 | Missense | Cisplatin, Cyclophosphamide | Neoplasms | Efficacy and toxicity |
rs1495741* | 8:18272881 | A | G | 0.87 | 0.82 | NS | 0.64 | 0.002 | 0.67 | 0.001 | 0.55 | 0.0005 | NAT2 | Downstream | Isoniazid, Sulfamethoxazole | Tuberculosis | Dose-related toxicity |
rs437943 | 4:35372098 | T | C | 0.50 | 0.36 | ns | 0.22 | 2.66×10−2 | 0.13 | 1.42×10−5 | 0.17 | 5.85×10−4 | ARAP2 | Flanking 3′UTR | TNF-alpha inhibitors | Rheumatoid arthritis | Efficacy |
Abbreviations: Chr, Chromosome; Pos, Base-pair physical position (hg19); A1, Allele 1; A2, Allele 2; Frq, frequency of A1; WETH, Wolaita from Wolaita zone, Ethiopia; ASW, African ancestry in Southwest USA; LWK, Luhya in Webuye, Kenya; MKK, Maasai in Kinyawa, Kenya; YRI, Yoruba in Ibadan, Nigeria; P, Bonferroni corrected P-value (nominal P × 443); ns, not significant after Bonferroni correction; NSSC, non-small cell cancer.
Also significant difference with CHB, CHD and JPT.
Also significant difference with GIH.