A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women
A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women
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DOI：
10.1007/s004390100468
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发表时间：
2001-03-01
期刊：
影响因子：
5.3
通讯作者：
Blakemore, AIF
中科院分区：
文献类型：
--
作者：
Quinton, ND;Lee, AJ;Blakemore, AIF
人类瘦素（肥胖）受体基因含有许多单核苷酸多态性，包括 GLN223ARG，它改变了受体所有亚型共有的胞外区域的氨基酸。在这里，我们证明，在绝经后白人女性中，该基因座的基因型与体重指数（BMI）、脂肪量和血清瘦素水平的差异相关。血清瘦素结合活性的测量表明这可能反映了与基因型相关的受体功能的变化。这些观察结果表明，瘦素受体基因的功能变异是调节肥胖和体重指数的重要因素。
The human leptin (obese) receptor gene contains a number of single nucleotide polymorphisms, including GLN223ARG, which changes an amino acid on the extracellular region common to ail isoforms of the receptor. Here, we demonstrate that, in postmenopausal Caucasian women, genotypes at that locus are associated with differences in body mass index (BMI), fat mass and serum leptin levels. Measurement of serum leptin-binding activity indicates that this may reflect changed receptor function associated with genotype. These observations indicate that functional variations in the leptin receptor gene are important factors in the regulation of adiposity and BMI.