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Chunk #1 — Results — Stage 2 follow-up leads to additional novel loci for BMI

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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
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To identify additional BMI-associated loci and to validate the loci that reached genome-wide significance in stage 1 analyses, we examined SNPs representing 42 independent loci (including the 19 genome-wide significant loci) with stage 1 P < 5×10−6. Variants were considered to be independent if the pair-wise linkage disequilibrium (LD; r2) was less than 0.1 and if they were separated by at least 1 Mb. In stage 2, we examined these 42 SNPs in up to 125,931 additional individuals (79,561 newly genotyped individuals from 16 different studies and 46,370 individuals from 18 additional studies for which GWA data were available; Table 1, Supplementary Note, and Online Methods). In a joint analysis of stage 1 and stage 2 results, 32 of the 42 SNPs reached P < 5×10−8. Even after excluding SNPs within these 32 confirmed BMI loci, we still observed an excess of small P-values compared to the distribution expected under the null hypothesis (Fig. 1b), suggesting that more BMI loci remain to be uncovered.