作者: Ruth Branson , Natascha Potoczna , John G. Kral , Klaus-Ulrich Lentes , Margret R. Hoehe
DOI: 10.1056/NEJMOA021971
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摘要: Background Obesity, a multifactorial disease caused by the interaction of genetic factors with environment, is largely polygenic. A few mutations in these genes, such as leptin receptor (LEPR) gene and melanocortin 4 (MC4R) gene, have been identified causes monogenic obesity. Methods We sequenced complete MC4R coding region, region proopiomelanocortin (POMC) encoding α melanocyte-stimulating hormone, leptin-binding domain LEPR 469 severely obese white subjects (370 women 99 men; mean [±SE] age, 41.0±0.5 years; body-mass index [the weight kilograms divided square height meters], 44.1±2.0). Fifteen 10 men without history dieting or family obesity served normal-weight controls (age, 47.7±2.0 index, 21.6±0.4). Detailed phenotypic data, including information on body fat, resting energy expenditure, diet-induced thermogenesis, serum concentrations leptin, eating behavior...