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Chunk #19 — GWASs

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Identifying genetic variation for alcohol dependence.
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In addition to studying alcohol dependence, a strategy to increase the power of GWASs has been to examine alcohol consumption as a quantitative variable. A recent meta-analysis of alcohol consumption by Schumann and colleagues (2011) used results from an initial sample of 26,316 population-based subjects and a follow-up sample of 21,185 European American subjects to identify a SNP called rs6943555 in the autism susceptibility candidate 2 (AUTS2) gene that was associated with alcohol consumption (in grams/day/kilogram of body weight) at P < 5 × 10−9. Specifically, people who carried the minor allele of rs6943555 showed 5.5 percent lower alcohol consumption than people who carried the major allele; however, secondary analyses did not reveal any association with alcohol dependence. Follow-up studies showed changes in mRNA expression that correlated with the rs6943555 genotype; moreover, the gene itself was expressed differently in low-alcohol– versus high-alcohol–preferring rats. Likewise, Heath and colleagues (2011) examined a quantitative factor score created from items assessing quantity and frequency of consumption, frequency of intoxication, and maximum drinks in a single 24-hour period, all reported for the 12-month period when