Current developments in the molecular genetics of the polycystic ovary syndrome

Trends in Endocrinology and Metabolism

Volumn 9, Issue 2, 1998, Pages 51-54

  Franks, Stephen ^a   Gharani, Neda ^a   Waterworth, Dawn ^a   Batty, Sari ^a   White, Davinia ^a   Williamson, Robert ^a   McCarthy, Mark ^a  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; INSULIN;

FEMALE; GENE CONTROL; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC POLYMORPHISM; HUMAN; HYPERANDROGENISM; HYPERINSULINEMIA; MENSTRUATION DISORDER; MOLECULAR GENETICS; NON INSULIN DEPENDENT DIABETES MELLITUS; OVARY POLYCYSTIC DISEASE; PRIORITY JOURNAL; REVIEW; STEROIDOGENESIS; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 0031978346     PISSN: 10432760     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1043-2760(98)00018-6     Document Type: Article

References (41)

1. Adams J, Polson DW, Franks S Prevalence of polycystic ovaries in women with anovulation and idiopathic hirsutism. Br Med. J 293:1986;355-359.
2. Barnes RB, Rosenfield RL, Burstein S, Ehrmann DA Pituitary-ovarian responses to nafarelin testing in the polycystic ovary syndrome. New Engl J Med. 320:1989;559-565.
3. Bennett ST, Todd JA Human type 1 diabetes and the insulin gene: principles of mapping polygenes. Annu Rev Genet. 30:1996;343-370.
4. Carey AH, Chan KL, Short F, White DM, Williamson R, Franks S Evidence for a single gene effect in polycystic ovaries and male pattern baldness. Clin Endocrinol. 38:1993;653-658.
5. Carey AH, Waterworth D, Patel Ket al. Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Hum Mol Genet. 3:1994;1873-1876.
6. Conway GS, Avey C, Rumsby G The tyrosine kinase domain of the insulin receptor gene is normal in women with hyperinsulinaemia and polycystic ovary syndrome. Hum Reprod. 9:1994;1681-1683.
7. Cooper H, Spellacy W, Prem K, Cohen W Hereditary factors in the Stein-Leventhal syndrome. Am J Obstet Gynecol. 100:1968;371-387.
8. Dunaif A: 1993. Insulin resistance and ovarian dysfunction. In Moller D, ed. Insulin Resistance. New York, John Wiley, pp 301-325.
9. Dunaif A, Graf M, Mandeli J, Laumas V, Dobrjansky A Characterization of groups of hyperandrogenic women with acanthosis nigricans, impaired glucose tolerance, and/or hyperinsulinemia. J Clin Endocrinol Metab. 65:1987;499-507.
10. Dunaif A, Xia J, Book C-B, Schenker E, Tang Z Excessive insulin receptor phosphorylation in cultured fibroblasts and in skeletal muscle. J Clin Invest. 96:1995;801-810.
11. Ehrmann D, Sturis J, Byrne M, Karrison T, Rosenfield R, Polonsky K Insulin secretory defects in polycystic ovary syndrome: relationship to insulin sensitivity and family history of non-insulin-dependent diabetes mellitus. J Clin Invest. 96:1995;520-527.
12. Ferriman D, Purdie AW The inheritance of polycystic ovarian disease and a possible relationship to premature balding. Clin Endocrinol. 11:1979;291-300.
13. Franks S The ubiquitous polycystic ovary. J Endocrinol. 129:1991;317-319.
14. Franks S Polycystic ovary syndrome. New Engl J Med. 333:1995;853-861.
15. Franks S The 17α-hydroxylase-17,20-lyase gene (CYP17) and polycystic ovary syndrome [commentary]. Clin Endocrinol. 46:1997;135-136.
16. Franks S, Willis D, Mason H, Gilling-Smith C: 1996. Comparative androgen production from theca cells of normal women and women with polycystic ovaries. In Chang RJ, ed. Polycystic Ovary Syndrome. New York, Springer, pp 154-164.
17. Franks Set al. The genetic basis of polycystic ovary syndrome. Hum Reprod. 12:1997;2641-2648.
18. Gharani N, Waterworth DM, Williamson R, Franks S 5′ polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries [letter]. J Clin Endocrinol Metab. 81:1996;4174.
19. Gharani N, Waterworth DM, Batty S Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism. Hum Mol Genet. 6:1997;397-402.
20. Gilling-Smith C, Willis DS, Beard RW, Franks S Hypersecretion of androstenedione by isolated theca cells from polycystic ovaries. J Clin Endocrinol Metab. 79:1994;1158-1165.
21. Gilling-Smith C, Storey EH, Franks S Evidence for a primary abnormality of thecal cell steroidogenesis in the polycystic ovary syndrome. Clin Endocrinol. 47:1997;93-99.
22. Givens JR Familial polycystic ovarian disease. Endocrinol Metab Clin North Am. 17:1988;771-783.
23. Hague WM, Adams J, Reeders ST, Peto TE, Jacobs HS Familial polycystic ovaries: a genetic disease? Clin Endocrinol. 29:1988;593-605.
24. Holte J Disturbances in insulin secretion and sensitivity in women with the polycystic ovary syndrome. Baillière's Clin Endocrinol Metab. 10:1996;221-247.
25. Holte J, Bergh T, Berne C, Berglund L, Lithell H Enhanced early insulin response to glucose in relation to insulin resistance in women with polycystic ovary syndrome and normal glucose tolerance. J Clin Endocrinol Metab. 78:1994;1052-1058.
26. Holte J, Bergh T, Berne Cet al. Restored insulin sensitivity but persistently increased early insulin secretion after weight loss in obese women with polycystic ovary syndrome. J Clin Endocrinol Metab. 80:1995;2586-2593.
27. Ibáñez L, Hall JE, Potau N, Carrascosa A, Prat A, Taylor AE Ovarian 17-hydroxyprogesterone hyperresponsiveness to gonadotropin-releasing hormone (GnRH) agonist challenge in women with polycystic ovary syndrome is not mediated by luteinizing hormone hypersecretion: evidence from GnRH agonist and human chorionic gonadotropin stimulation testing. J Clin Endocrinol Metab. 81:1996;4103-4107.
28. Kruglyak L, Daly MJ, Reeve-Daly MP Parametric and non-parametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 58:1996;1347-1363.
29. Legro RS The genetics of polycystic ovary syndrome. Am J Med. 98(Suppl. 1A):1995;9S-16S.
30. Lunde O, Magnus P, Sandvik L, Hoglo S Familial clustering in the polycystic ovarian syndrome. Gynecol Obstet Invest. 28:1989;23-30.
31. Moller DE, Flier JS Detection of an alteration in the insulin receptor gene in a patient with insulin resistance, acanthosis nigricans and the polycystic ovary syndrome. New Engl J Med. 319:1988;1526-1529.
32. O'Meara N, Blackman JD, Ehrmann DAet al. Defects in β-cell function in functional ovarian hyperandrogenism. J Clin Endocrinol Metab. 76:1993;1241-1247.
33. Robinson S, Kiddy D, Gelding SVet al. The relationship of insulin sensitivity to menstrual pattern in women with hyperandrogenism and polycystic ovaries. Clin Endocrinol. 39:1993;351-355.
34. Rosenfield RL, Barnes RB, Cara JF, Lucky AW Dysregulation of cytochrome P450c 17alpha as the cause of polycystic ovarian syndrome. Fertil Steril. 53:1990;785-791.
35. Simpson JL: 1992. Elucidating the genetics of polycystic ovary syndrome. In Dunaif A, Givens JR, Haseltine FP, Merriam GR, eds. Polycystic Ovary Syndrome. Oxford, Blackwell Scientific Publications, pp 59-77.
36. Spielman RS, Ewens WJ The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet. 59:1996;983-989.
37. Talbot JA, Bicknell EJ, Rajkhowa M, Krook A, O'Rahilly S, Clayton RN Molecular scanning of the insulin receptor gene in women with polycystic ovary syndrome. J Clin Endocrinol Metab. 81:1996;1979-1983.
38. Techatraisak K, Conway GS, Rumsby G Frequency of a polymorphism in the regulatory region of the 17α-hydroxylase-17,20 lyase (CYP17) gene in hyperandrogenic states. Clin Endocrinol. 46:1997;131-134.
39. Waterworth DM, Bennett ST, Gharani Net al. Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet. 349:1997;986-989.
40. Yen SSC The polycystic ovary syndrome. Clin Endocrinol. 12:1980;177-207.
41. Zhang LH, Rodriguez H, Ohno S, Miller WL Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome. Proc Natl Acad Sci USA. 92:1995;10619-10623.