Proopiomelanocortin gene variants are associated with serum leptin and body fat in a normal female population.

摘要: A major quantitative trait locus (QTL) determining leptin levels has been linked to the proopiomelanocortin (POMC) region on chromosome 2. Most studies, based under 350 lean or obese subjects, have shown no association between POMC SNP 8246 C/T and serum leptin, but significant associations reported with RsaI haplotypes. We investigated of four SNPs body composition in 2758 normal Caucasian female subjects (mean age 47.4±12.5 years), from St Thomas' UK Adult Twin Registry (Twins UK): 51 G/C 5′UTR 7965 3′UTR. Under recessive model, T allele (freq. 0.18) was significantly associated higher mean BMI (P=0.032) total fat (P=0.046, both after adjustment). Significant were maintained sib-TDT waist (P=0.049), (P=0.037) emerged (P=0.016). Initial (−) 0.30) (P=0.04) % central (P=0.02) not sib-TDT. No found RsaI/8246 haplotype none 0.01) 0.004). There minimal pairwise LD loci, apart (D′=−0.78 (P<0.0001)). Associations BMI, weight regions flanking gene this powerful study suggest that regulation expression may be influential weight.