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Chunk #13 — Findings from classical AD GWAS

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Alcohol Dependence Genetics: Lessons Learned From Genome-Wide Association Studies (GWAS) and Post-GWAS Analyses.
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Zuo et al. (2012) performed an AD meta-analysis in the SAGE and COGA datasets (1,409 EA AD cases, 1,518 EA controls, 681 AA AD cases and 608 AA controls), the primary results from which are described above, in which the EA sample served as the discovery sample and the AA sample as the replication sample. At a significance threshold of 5 × 10−7, which takes into account the non-independence of SNP markers, this study identified eight SNPs that they considered GWS (although none reached a conventional threshold): two in KIAA0040, five in SERINC2, and one in HTR1A. Although no association was replicated in AAs, signals at the KIAA0040 locus were enriched in AAs, and several of the KIAA0040 SNPs were demonstrated to be cis eQTLs in HapMap cell lines, which the authors concluded suggested a functional link with AD.