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A genome wide association study of alcohol dependence symptom counts in extended pedigrees identifies C15orf53
Journal article   Open access   Peer reviewed

A genome wide association study of alcohol dependence symptom counts in extended pedigrees identifies C15orf53

Jen-Chyong Wang, Tatiana Foroud, Anthony L Hinrichs, Nhung XH Le, Sarah Bertelsen, John P Budde, Oscar Harari, Daniel L Koller, Leah Wetherill, Arpana Agrawal, …
Molecular psychiatry, Vol.18(11), pp.1218-1224
10/23/2012
DOI: 10.1038/mp.2012.143
PMCID: PMC3752321
PMID: 23089632
url
https://doi.org/10.1038/mp.2012.143View
Published (Version of record) Open Access

Abstract

Several studies have identified genes associated with alcohol use disorders, but the variation in each of these genes explains only a small portion of the genetic vulnerability. The goal of the present study was to perform a genome-wide association study (GWAS) in extended families from the Collaborative Study on the Genetics of Alcoholism (COGA) to identify novel genes affecting risk for alcohol dependence. To maximize the power of the extended family design we used a quantitative endophenotype, measured in all individuals: number of alcohol dependence symptoms endorsed (symptom count). Secondary analyses were performed to determine if the single nucleotide polymorphisms (SNPs) associated with symptom count were also associated with the dichotomous phenotype, DSM-IV alcohol dependence. This family-based GWAS identified SNPs in C15orf53 that are strongly associated with DSM-IV alcohol ( p =4.5×10 −8 , inflation corrected p =9.4×10 −7 ). Results with DSM-IV alcohol dependence in the regions of interest support our findings with symptom count, though the associations were less significant. Attempted replications of the most promising association results were conducted in two independent samples: non-overlapping subjects from the Study of Addiction: Genes and Environment (SAGE) and the Australian twin-family study of alcohol use disorders (OZALC). Nominal association of C15orf53 with symptom count was observed in SAGE. The variant that showed strongest association with symptom count, rs12912251 and its highly correlated variants (D′=1, r 2 ≥ 0.95), has previously been associated with risk for bipolar disorder.
C15orf53 DSM-IV alcohol dependence symptoms Family-based GWAS Quantitative traits

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