Human Reproduction Update, Vol.7, No.4 pp.405-410, 2001
© European Society of Human Reproduction and Embryology 2001; all rights reserved
Genetics and Infertility II
Candidate genes in polycystic ovary syndrome
1 Imperial College School of Medicine, St Mary’s and Hammersmith Hospitals, London, UK
To whom correspondence should be addressed at: Stephen Franks, Department of Reproductive Science and Medicine, Institute of Reproductive and Developmental Biology, Imperial College School of Medicine, Hammersmith Hospital, London W12 0NN. e-mail: s.franks{at}ic.ac.uk
Abstract
The candidate gene approach has already paid some dividends in trying to understand the complex genetics of polycystic ovary syndrome (PCOS). In terms of steroidogenic abnormalities, CYP11a–-encoding P450 side chain cleavage–-appears to be a major susceptibility locus. In relation to the well-described metabolic disturbances in PCOS, the insulin gene variable number tandem repeat (VNTR) appears to be a promising candidate, at least in populations studied in the UK. Finally, genes implicated in ovarian follicular development may have a role in the aetiology of PCOS, as demonstrated by recent identification of the follistatin gene as a potential disease locus. It seems unlikely that PCOS can be explained on the basis of a single gene disorder although, in a given family, one gene may have a predominant effect. An oligogenic model seems the most appropriate basis on which to understand the genetic origins of this very common disorder. The candidate gene approach has been useful to date, but it may prove important in the near future to perform an anonymous genome-wide scan to identify hitherto unheralded susceptibility loci.
Key words: anovulatory / candidate genes / endocrinology / hirsutism / polycystic ovary syndrome
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  M. E. Kevenaar, A. P.N. Themmen, A. J. van Kerkwijk, O. Valkenburg, A. G. Uitterlinden, F. H. de Jong, J. S.E. Laven, and J. A. Visser Variants in the ACVR1 gene are associated with AMH levels in women with polycystic ovary syndrome Hum. Reprod., January 1, 2009; 24(1): 241 - 249. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. Ferk, N. Teran, and K. Gersak The (TAAAA)n microsatellite polymorphism in the SHBG gene influences serum SHBG levels in women with polycystic ovary syndrome Hum. Reprod., April 1, 2007; 22(4): 1031 - 1036. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. R. Stewart, B. A. Dombroski, M. Urbanek, W. Ankener, K. G. Ewens, J. R. Wood, R. S. Legro, J. F. Strauss III, A. Dunaif, and R. S. Spielman Fine Mapping of Genetic Susceptibility to Polycystic Ovary Syndrome on Chromosome 19p13.2 and Tests for Regulatory Activity J. Clin. Endocrinol. Metab., October 1, 2006; 91(10): 4112 - 4117. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Diamanti-Kandarakis and C. Piperi Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth Hum. Reprod. Update, November 1, 2005; 11(6): 631 - 643. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. J. Petry, K. K. Ong, K. F. Michelmore, S. Artigas, D. L. Wingate, A. H. Balen, F. de Zegher, L. Ibanez, and D. B. Dunger Association of aromatase (CYP 19) gene variation with features of hyperandrogenism in two populations of young women Hum. Reprod., July 1, 2005; 20(7): 1837 - 1843. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. L. Powell, L. Haddad, A. Bennett, N. Gharani, U. Sovio, C. J. Groves, K. Rush, M. J. Goh, G. S. Conway, A. Ruokonen, et al. Analysis of Multiple Data Sets Reveals No Association between the Insulin Gene Variable Number Tandem Repeat Element and Polycystic Ovary Syndrome or Related Traits J. Clin. Endocrinol. Metab., May 1, 2005; 90(5): 2988 - 2993. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. F. Escobar-Morreale, M. Luque-Ramirez, and J. L. San Millan The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome Endocr. Rev., April 1, 2005; 26(2): 251 - 282. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. Zheng, Y.-T. Gao, X.-O. Shu, W. Wen, Q. Cai, Q. Dai, and J. R. Smith Population-Based Case-Control Study of CYP11A Gene Polymorphism and Breast Cancer Risk Cancer Epidemiol. Biomarkers Prev., May 1, 2004; 13(5): 709 - 714. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Gaasenbeek, B. L. Powell, U. Sovio, L. Haddad, N. Gharani, A. Bennett, C. J. Groves, K. Rush, M. J. Goh, G. S. Conway, et al. Large-Scale Analysis of the Relationship between CYP11A Promoter Variation, Polycystic Ovarian Syndrome, and Serum Testosterone J. Clin. Endocrinol. Metab., May 1, 2004; 89(5): 2408 - 2413. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Korhonen, S. Heinonen, M. Hiltunen, S. Helisalmi, M. Hippelainen, R. Koivunen, J.S. Tapanainen, and M. Laakso Polymorphism in the peroxisome proliferator-activated receptor-{gamma} gene in women with polycystic ovary syndrome Hum. Reprod., March 1, 2003; 18(3): 540 - 543. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Balen and K. Michelmore What is polycystic ovary syndrome?: Are national views important? Hum. Reprod., September 1, 2002; 17(9): 2219 - 2227. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Ben-Shlomo, U. A. Vitt, and A. J. W. Hsueh Perspective: The Ovarian Kaleidoscope Database--II. Functional Genomic Analysis of an Organ-Specific Database Endocrinology, June 1, 2002; 143(6): 2041 - 2044. [Abstract] [Full Text] [PDF]
|
|