Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome

被引:61
作者
Du, Jing [1 ]
Zhang, Wenjing [1 ,2 ,3 ]
Guo, Lingli [4 ]
Zhang, Zhaofeng [1 ]
Shi, Huijuan [1 ]
Wang, Jian [1 ]
Zhang, Huiqin [5 ]
Gao, Linghan [6 ]
Feng, Guoyin [7 ]
He, Lin [6 ,8 ,9 ]
机构
[1] Shanghai Inst Planned Parenthood Res, Shanghai 200032, Peoples R China
[2] Fudan Univ, Shanghai 200032, Peoples R China
[3] Fudan Univ, Peoples Hosp 5, Shanghai 200240, Peoples R China
[4] Second Mil Med Univ, Changhai Hosp, Dept Plast Surg, Shanghai, Peoples R China
[5] Shanghai Inst Planned Parenthood Res Hosp, Shanghai 200032, Peoples R China
[6] Shanghai Jiao Tong Univ, Bio X Ctr, Shanghai 200030, Peoples R China
[7] Shanghai Inst Mental Hlth, Shanghai 200030, Peoples R China
[8] Fudan Univ, Inst Biomed Sci, Shanghai 200032, Peoples R China
[9] Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Nutr Sci, Shanghai 200031, Peoples R China
关键词
FSHR; POF; PCOS; FOLLICLE-STIMULATING-HORMONE; RECEPTOR GENE; POLYMORPHISMS; MUTATION; DISEQUILIBRIUM; ASSOCIATION; PHYSIOLOGY;
D O I
10.1016/j.ymgme.2010.03.018
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
In this study, two polymorphisms of follicle stimulating hormone receptor (FSHR) gene were analysed in the case-control sample using 40 premature ovarian failure (POF) patients, 60 polycystic ovary syndrome (PCOS) patients and 92 healthy controls. All subjects were unrelated Han Chinese from Shanghai. No difference was observed on the allelic or genotypic distribution of FSHR gene polymorphisms between the groups. However, the two-marker haplotypes covering components Thr307Ala (rs6165) G and Asn680Ser (rs6166) A were observed to be significantly associated with PCOS (p = 0.007, corrected p = 0.042). Meanwhile, a meta-analysis including our study (altogether six POF and eight PCOS studies) showed significant association between rs6166 marker and PCOS (p < 0.05). The results suggest that FSH receptor might play a role in genetic susceptibility to PCOS. However, confirmatory studies in independent samples are needed. (C) 2010 Elsevier Inc. All rights reserved.
引用
收藏
页码:292 / 295
页数:4
相关论文
共 28 条
[21]   The follicle-stimulating hormone receptor: Biochemistry, molecular biology, physiology, and pathophysiology [J].
Simoni, M ;
Gromoll, J ;
Nieschlag, E .
ENDOCRINE REVIEWS, 1997, 18 (06) :739-773
[22]  
Simoni M, 1995, REPROD MED REV, V4, P163
[23]   Genetic and functional analyses of polymorphisms in the human FSH receptor gene [J].
Sudo, S ;
Kudo, M ;
Wada, S ;
Saito, O ;
Hsueh, AJW ;
Fujimoto, S .
MOLECULAR HUMAN REPRODUCTION, 2002, 8 (10) :893-899
[24]   Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF) [J].
Sundblad, V ;
Chiauzzi, VA ;
Escobar, ME ;
Dain, L ;
Charreau, EH .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2004, 222 (1-2) :53-59
[25]   Mutations of gonadotropins and gonadotropin receptors: Elucidating the physiology and pathophysiology of pituitary-gonadal function [J].
Themmen, APN ;
Huhtaniemi, IT .
ENDOCRINE REVIEWS, 2000, 21 (05) :551-583
[26]   Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome [J].
Tong, Y ;
Liao, WX ;
Roy, AC ;
Ng, SC .
HORMONE AND METABOLIC RESEARCH, 2001, 33 (04) :221-226
[27]   Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome [J].
Unsal, Tugba ;
Konac, Ece ;
Yesilkaya, Ediz ;
Yilmaz, Akin ;
Bideci, Aysun ;
Onen, Hacer Ilke ;
Cinaz, Peyami ;
Menevse, Adnan .
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2009, 26 (04) :205-216
[28]   Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome [J].
Valkenburg, O. ;
Uitterlinden, A. G. ;
Piersma, D. ;
Hofman, A. ;
Themmen, A. P. N. ;
de Jong, F. H. ;
Fauser, B. C. J. M. ;
Laven, J. S. E. .
HUMAN REPRODUCTION, 2009, 24 (08) :2014-2022