A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women

被引：147
|
作者：
Quinton, ND
Lee, AJ
Ross, RJM
Eastell, R
Blakemore, AIF
机构：
[1] Northwick Pk Hosp, Kennedy Galton Ctr, Harrow HA1 3UJ, Middx, England
[2] Sheffield Hallam Univ, Biomed Res Ctr, Sheffield S1 1WB, S Yorkshire, England
[3] Univ Sheffield, No Gen Hosp, Div Clin Sci NGHT, Sheffield S5 7AU, S Yorkshire, England
来源：
HUMAN GENETICS | 2001年 / 108卷 / 03期
关键词：
D O I：
10.1007/s004390100468
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：233 / 236
页数：4
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