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Chunk #9 — Results — GWAS analyses

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Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.
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The GWAS for AUDIT-C (Fig. 1a, Table 1 and Supplementary Table 1 and Supplementary Data 1) identified 13 independent loci in EAs, 2 in AAs, 1 in LAs (Hispanic and Latino Americans), and 1 in EAAs (East Asian Americans) (Supplementary Figs. 4, 5). Meta-analysis across the five populations (see Methods) also yielded 13 independent loci, 5 of which were previously associated with a self-reported measure of alcohol consumption: GCKR21, KLB20,21, ADH1B18,21, ADH1C21, and SLC39A8 (ref. 8). The eight trans-population signals for AUDIT-C identified here include VRK2 (Vaccinia related kinase 2), DCLK2 (Doublecortin like kinase 2), ISL1 (ISL LIM Homeobox 1), FTO (Alpha-Ketoglutarate Dependent Dioxygenase), IGF2BP1 (Insulin like growth factor 2 MRNA binding protein 1), PPR1R3B (Protein phosphatase 1 regulatory subunit 3B), BRAP (BRCA1 associated protein), BAHCC1 (BAH domain and coiled-coil containing 1), and RBX1 (Ring-box 1). BAHCC1 and RBX1 were GWS only in the trans-population meta-analysis, the results of which were driven largely by the findings in EAs, who comprised 73.5% of the total MVP sample.Table 1Genome-wide significant associations for AUDIT-C in the trans-population meta-analysisrsIDChr:posaA1/A2GenebEAFNZ-scoreP_EAP_AAP_LAP_EAAP_SAAEffectP_ metars12603262:27730940C/T GCKR c 0.652270,2268.221.74 ×