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Chunk #8 — Results

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A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study.
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The most significant variant, rs56137030, was correlated at r2>0.5 with 103 SNPs in Europeans (Figure 1a), including eight of the nine GWAS index SNPs (Table S2). In contrast in AAs rs56137030 was correlated with only 28 SNPs at r2>0.5 (Table S2, Figure 1b). All 28 variants correlated with rs56137030 in AA showed some evidence of association with BMI (p-values 0.0057 to 1.1×10−5) and no or limited evidence of heterogeneity (all p for heterogeneity >0.04). To investigate if any of these correlated SNPs were associated with BMI independently from rs56137030 we adjusted each SNP for rs56137030 (including rs56137030 and a second SNP simultaneously in one model). None of these variants remained significant at p<0.05 (Table S2). As expected, the p-values of rs56137030 were also less significant in these conditional analyses, particularly for SNPs highly correlated in AA, demonstrating that these findings are not independent. All 28 SNPs correlated with rs56137030 (r2>0.5) in AA are located between 53,800,954 and 53,845,487, spanning a 44.5 kb region about 104.8 kb downstream of the exon 1 boundary, and ending about 1.4 Kb after exon 2