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Chunk #14 — RESULTS — FTO SNP ASSOCIATIONS WITH OBESITY AND RELATED TRAITS

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Physical activity and the association of common FTO gene variants with body mass index and obesity.
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We examined the relationship between the 2 best SNPs identified from our analyses with rs9939609. In the OOA, this SNP is in strong LD with rs1477196 (D′=1; r2=0.54) but not with rs1861868 (D′=0.44; r2=0.17) (Figure 1). Together, the 3 SNPs (ordered from 5′ to 3′ rs1861868-rs1477196-rs9939609) defined 6 possible haplotypes (2 with frequencies <5%), 3 of which were associated with BMI (global permuted P=.004) (Table 2). The GTA haplotype had a frequency of 33.0% and was associated with decreased BMI (permuted P<.001), whereas the complementary ACT haplotype had a frequency of 35.0% and was associated with increased BMI (permuted P =.08). The less frequent ACA haplotype (10.4%) was also associated with increased BMI (permuted P =.006). These results suggest that in the OOA, regardless of rs9939609 allele (A or T), rs1861868 and rs1477196 define a haplotype that is associated with increased BMI.