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Chunk #1 — Background

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On the association of common and rare genetic variation influencing body mass index: a combined SNP and CNV analysis.
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Genome-wide association studies (GWAS) have successfully identified single nucleotide polymorphisms (SNPs) that contribute to individual variation in BMI and common obesity [7, 8]. In general adult populations of European descent, there are 32 SNPs showing robustly replicated association with BMI. However, individual variants have relatively small effects (0.06 to 0.39 kg/m2 in BMI per risk allele among Europeans) and in aggregate account for only a limited proportion of the phenotypic variance (~1.45%) [9]. GWAS of BMI in populations of African ancestry are limited but initial reports suggest a portion of the European-associated variants may also be associated across diverse populations [10–14].