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

页码：233 / 236

页数：4

共 20 条

[1] Genetic influences on changes in body bass index: A longitudinal analysis of women twins.
Austin, MA
Friedlander, Y
Newman, B
Edwards, K
MayerDavis, EJ
King, MC
[J]. OBESITY RESEARCH, 1997, 5 (04): : 326 - 331
[2] Leptin is a metabolic signal to the reproductive system
Barash, IA
Cheung, CC
Weigle, DS
Ren, HP
Kabigting, EB
Kuijper, JL
Clifton, DK
Steiner, RA
[J]. ENDOCRINOLOGY, 1996, 137 (07) : 3144 - 3147
[3] CHAGNONYC, 2000, J CLIN ENDOCRINOL ME, V85, P129
[4] The reproductive side of leptin
Chehab, FF
[J]. NATURE MEDICINE, 1997, 3 (09) : 952 - 953
[5] The hypothalamic leptin receptor in humans - Identification of incidental sequence polymorphisms and absence of the db/db mouse and fa/fa rat mutations
Considine, RV
Considine, EL
Williams, CJ
Hyde, TM
Caro, JF
[J]. DIABETES, 1996, 45 (07) : 992 - 994
[6] Amino acid variants in the human leptin receptor: Lack of association to juvenile onset obesity
Echwald, SM
Sorensen, TD
Sorensen, TIA
TybjaergHansen, A
Andersen, T
Chung, WK
Leibel, RL
Pedersen, O
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1997, 233 (01) : 248 - 252
[7] Leptin receptor gene variation and obesity: Lack of association in a white British male population
Gotoda, T
Manning, BS
Goldstone, AP
Imrie, H
Evans, AL
Strosberg, AD
McKeigue, PM
Scott, J
Aitman, TJ
[J]. HUMAN MOLECULAR GENETICS, 1997, 6 (06) : 869 - 876
[8] Circulating leptin in women: a longitudinal study in the menstrual cycle and during pregnancy
Hardie, L
Trayhurn, P
Abramovich, D
Fowler, P
[J]. CLINICAL ENDOCRINOLOGY, 1997, 47 (01) : 101 - 106
[9] Gender differences in serum leptin levels in humans
Hickey, MS
Israel, RG
Gardiner, SN
Considine, RV
McCammon, MR
Tyndall, GL
Houmard, JA
Marks, RHL
Caro, JF
[J]. BIOCHEMICAL AND MOLECULAR MEDICINE, 1996, 59 (01) : 1 - 6
[10] Evidence for leptin binding to proteins in serum of rodents and humans: Modulation with obesity
Houseknecht, KL
Mantzoros, CS
Kuliawat, R
Hadro, E
Flier, JS
Kahn, BB
[J]. DIABETES, 1996, 45 (11) : 1638 - 1643

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