Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use

Drug and Alcohol Dependence
Andries T MareesEske M Derks

Abstract

Alcohol and tobacco use are heritable phenotypes. However, only a small number of common genetic variants have been identified, and common variants account for a modest proportion of the heritability. Therefore, this study aims to investigate the role of low-frequency and rare variants in alcohol and tobacco use. We meta-analyzed ExomeChip association results from eight discovery cohorts and included 12,466 subjects and 7432 smokers in the analysis of alcohol consumption and tobacco use, respectively. The ExomeChip interrogates low-frequency and rare exonic variants, and in addition a small pool of common variants. We investigated top variants in an independent sample in which ICD-9 diagnoses of "alcoholism" (N = 25,508) and "tobacco use disorder" (N = 27,068) had been assessed. In addition to the single variant analysis, we performed gene-based, polygenic risk score (PRS), and pathway analyses. The meta-analysis did not yield exome-wide significant results. When we jointly analyzed our top results with the independent sample, no low-frequency or rare variants reached significance for alcohol consumption or tobacco use. However, two common variants that were present on the ExomeChip, rs16969968 (p = 2.39 × 10-7) and rs8034191 (...Continue Reading

Citations

Aug 23, 2019·AIDS and Behavior·Kirsha S GordonAmy C Justice
Jul 28, 2019·European Journal of Epidemiology·Emiel O HoogendijkMartijn Huisman
May 20, 2021·Nicotine & Tobacco Research : Official Journal of the Society for Research on Nicotine and Tobacco·Victoria A RisnerRohan H C Palmer

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