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Chunk #16 — GENOME‐WIDE ASSOCIATION STUDIES (GWAS) — Key GWAS findings

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The collaborative study on the genetics of alcoholism: Genetics.
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been robustly associated with AUD and with alcohol consumption, was not uniformly associated with all AUD criteria but rather was driven by criteria indexing tolerance and desire to quit or cut back. 61 Although the frequency of this variant is lower in individuals of European genetic ancestry (T allele frequency ~ 2.9% according to 1000 Genomes data) than in those of East Asian genetic ancestry (~69.7%), the effect size of this variant on alcohol‐related outcomes is similar across ancestries, providing further support for a causal role of this specific variant. 99 Interestingly, the functional variants in both ADH1B and ALDH2 are protective against the development of AUD, both acting via alterations in the metabolism of ethanol.