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Chunk #20 — Results — Genome-wide association

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Genomewide Association Study for Maximum Number of Alcoholic Drinks in European Americans and African Americans.
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In addition to the genomic region on chromosome 4q, we identified two significant loci for EAs. In the EA samples, rs1799865 on chromosome 1 and rs2309169 on chromosome 2 showed significant association (rs1799865: MAF=0.38, p=4.00 x 10-8, β=-0.16; rs2309169, p=5.58x10-9, β=-0.28) (Supplemental figure 2A and 2B). Rs1799865 maps to SERPINC1, which encodes a plasma protease inhibitor. Rs2309169 is located 10kb downstream to ANKRD36. In AAs, a SNP rs1040883 SMPD1 on chromosome 11 showed significant association with MaxDrinks, which was mostly driven by the SAGE sample (p=1.10 x 10-8). However, this locus was not significantly associated in either our AA samples nor in the meta-analysis in the combination samples, and the effects of the SNP were opposite direction in the SAGE sample and the combined sample, suggesting a potential spurious significant SNP.