Identification of a functional polymorphism of the human type 5 17β-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 1, 2006, Pages 270-276

  Qin, Kenan ^a,b   Ehrmann, David A ^a   Cox, Nancy ^a   Refetoff, Samuel ^a   Rosenfield, Robert L ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b Section of Pediatric Endocrinology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; DEXAMETHASONE; GLYCINE; GONADORELIN AGONIST; INSULIN; TESTOSTERONE; TESTOSTERONE 17BETA DEHYDROGENASE; TROGLITAZONE;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA FLANKING REGION; ENZYME ACTIVITY; EXON; FEMALE; GEL MOBILITY SHIFT ASSAY; GENE CONSTRUCT; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTHECOSIS; INSULIN RESISTANCE; MAJOR CLINICAL STUDY; NONHUMAN; OVARY DISEASE; OVARY POLYCYSTIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; RAT; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; TESTOSTERONE BLOOD LEVEL; TESTOSTERONE RELEASE; THECA CELL; WILD TYPE;

17-HYDROXYSTEROID DEHYDROGENASES; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; GENES, REPORTER; GENOTYPE; HUMANS; LUCIFERASES; POLYCYSTIC OVARY SYNDROME; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TESTOSTERONE; TRANSFECTION;

ANIMALIA;

EID: 30344458775     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2012     Document Type: Article

References (43)

1. Ehrmann DA, Barnes RB, Rosenfield RL 1995 Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion. Endocr Rev 16:322-353
2. Cara JF, Rosenfield RL 1988 Insulin-like growth factor-I and insulin potentiate luteinizing hormone-induced androgen synthesis by rat ovarian theca-interstitial cells. Endocrinology 123:733-739
3. Cara JF, Fan J, Azzarello J, Rosenfield RL 1990 Insulin-like growth factor-I enhances luteinizing hormone binding to rat ovarian theca-interstitial cells. J Clin Invest 86:560-565
4. Barbieri RL, Smith S, Ryan KJ 1988 The role of hyperinsulinemia in the pathogenesis of ovarian hyperandrogenism. Fertil Steril 50:197-212
5. Nestler JE, Jakubowicz DJ, de Vargas AF, Brik C, Quintero N, Medina F 1998 Insulin stimulates testosterone biosynthesis by human thecal cells from women with polycystic ovary syndrome by activating its own receptor and using inositolglycan mediators as the signal transduction system. J Clin Endocrinol Metab 83:2001-2005
6. Rosenfield RL 1971 Plasma testosterone binding globulin and indexes of the concentration of unbound androgens in normal and hirsute subjects. J Clin Endocrinol Metab 32:717-728
7. Mendonca B, Arnhold I, Bloise W, Andersson S, Russell D, Wilson J 1999 17β-Hydroxysteroid dehydrogenase 3 deficiency in women. J Clin Endocrinol Metab 84:802-804
8. Qin K, Rosenfield RL 2000 Expression of 17β-hydroxysteroid dehydrogenase type 5 in human ovary. A pilot study. J Soc Gynecol Invest 7:61-64
9. Nelson VL, Qin K, Rosenfield RL, Wood JR, Penning TM, Legro RS, Strauss 3rd JF, McAllister JM 2001 The biochemical basis for increased testosterone production in theca cells propagated from patients with polycystic ovary syndrome. J Clin Endocrinol Metab 86:5925-5933
10. Qin K, New MI, Cheng KC 1993 Molecular cloning of multiple cDNAs encoding human enzymes structurally related to 3α-hydroxysteroid dehydrogenase. J Steroid Biochem Mol Biol 46:673-679
11. Khanna M, Qin K, Wang RW, Cheng KC 1995 Substrate specificity, gene structure, and tissue-specific distribution of multiple human 3α-hydroxysteroid dehydrogenases. J Biol Chem 270:20162-20168
12. Dufort I, Rheault P, Huang XF, Soucy P, Luu-The V 1999 Characteristics of a highly labile human type 5 17β-hydroxysteroid dehydrogenase. Endocrinology 140:568-574
13. Luu-The V 2001 Analysis and characteristics of multiple types of human 17β-hydroxysteroid dehydrogenase. J Steroid Biochem Mol Biol 76:143-151
14. Khanna M, Qin K, Klisak I, Belkin S, Sparkes RS, Cheng KC 1995 Localization of multiple human dihydrodiol dehydrogenase (DDH1 and DDH2) and chlordecone reductase (CHDR) genes in chromosome 10 by the polymerase chain reaction and fluorescence in situ hybridization. Genomics 25:588-590
15. Qin K, Rosenfield RL 2005 Characterization of the basal promoter element of the human type 5 17β-hydroxysteroid dehydrogenase gene. Biochim Biophys Acta 1728:115-125
16. Rosenfield RL, Barnes RB, Ehrmann DA 1994 Studies of the nature of 17-hydroxyprogesterone hyperresponsiveness to gonadotropin releasing hormone agonist challenge in functional ovarian hyperandrogenism. J Clin Endocrinol Metab 79:1686-1692
17. Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group 2004 Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril 81:19-25
18. Ehrmann DA, Rosenfield RL, Barnes RB, Brigell DF, Sheikh Z 1992 Detection of functional ovarian hyperandrogenism in women with androgen excess. N Engl J Med 327:157-162
19. Magoffin DA, Erickson GF 1982 Primary culture of differentiating ovarian androgen-producing cells in defined medium. J Biol Chem 257:4507-4513
20. Legro RS, Strauss JF 2002 Molecular progress in infertility: polycystic ovary syndrome. Fertil Steril 78:569-576
21. Carey A, Waterworth D, Patel K, White D, Little J, Novelli P, Franks S, Williamson R 1994 Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Hum Mol Genet 3:1873-1876
22. Legro RS, Driscoll D, Strauss 3rd JF, Fox J, Dunaif A 1998 Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci USA 95:14956-14960
23. Ferriman D, Purdie A 1979 The inheritance of polycystic ovarian disease and a possible relationship to premature balding. Clin Endocrinol (Oxf) 11:291-300
24. Hague W, Adams J, Reeders S, Peto T, Jacobs H 1988 Familial polycystic ovaries: a genetic disease? Clin Endocrinol (Oxf) 29:593-605
25. Gilling-Smith C, Willis DS, Beard RW, Franks S 1994 Hypersecretion of androstenedione by isolated theca cells from polycystic ovaries. J Clin Endocrinol Metab 79:1158-1165
26. Nelson VL, Legro RS, Strauss 3rd JF, McAllister JM 1999 Augmented androgen production is a stable steroidogenic phenotype of propagated theca cells from polycystic ovaries. Mol Endocrinol 13:946-957
27. Casey ML, MacDonald PC, Andersson S 1994 17β-Hydroxysteroid dehydrogenase type 2: chromosomal assignment and progestin regulation of gene expression in human endometrium. J Clin Invest 94:2135-2141
28. Waterworth DM, Bennett ST, Gharani N, McCarthy MI, Hague S, Batty S, Conway GS, White D, Todd JA, Franks S, Williamson R 1997 Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet 349:986-990
29. Urbanek M, Legro RS, Driscoll DA, Azziz R, Ehrmann DA, Norman RJ, Strauss 3rd JF, Spielman RS, Dunaif A 1999 Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin. Proc Natl Acad Sci USA 96:8573-8578
30. Tucci S, Futterweit W, Concepcion ES, Greenberg DA, Villanueva R, Davies TF, Tomer Y 2001 Evidence for association of polycystic ovary syndrome in Caucasian women with a marker at the insulin receptor gene locus. J Clin Endocrinol Metab 86:446-449
31. Urbanek M, Du Y, Silander K, Collins FS, Steppan CM, Strauss 3rd JF, Dunaif A, Spielman RS, Legro RS 2003 Variation in resistin gene promoter not associated with polycystic ovary syndrome. Diabetes 52:214-217
32. Franks S, Gharani N, Waterworth D, Batty S, White D, Williamson R, McCarthy M 1998 Genetics of polycystic ovary syndrome. Mol Cell Endocrinol 145:123-128
33. Urbanek M, Wu X, Vickery KR, Kao LC, Christenson LK, Schneyer A, Legro RS, Driscoll DA, Strauss 3rd JF, Dunaif A, Spielman RS 2000 Allelic variants of the follistatin gene in polycystic ovary syndrome. J Clin Endocrinol Metab 85:4455-4461
34. Liao WX, Roy AC, Ng SC 2000 Preliminary investigation of follistatin gene mutations in women with polycystic ovary syndrome. Mol Hum Reprod 6:587-590
35. Powell BL, Haddad L, Bennett A, Gharani N, Sovio U, Groves CJ, Rush K, Goh MJ, Conway GS, Ruokonen A, Martikainen H, Pouta A, Taponen S, Hartikainen AL, Halford S, Zeggini E, Jarvelin MR, Franks S, McCarthy MI 2005 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 90:2988-2993
36. n at -528 base pairs of gene CYP11α influences hyperandrogenemia in patients with polycystic ovary syndrome. Fertil Steril 73:735-741
37. Arioglu E, Andewelt A, Diabo C, Bell M, Taylor SI, Gorden P 2002 Clinical course of the syndrome of autoantibodies to the insulin receptor (type B insulin resistance): a 28-year perspective. Medicine (Baltimore) 81:87-100
38. Ehrmann DA, Jeppe S, Byrne M, Karrison T, Rosenfield RL, Polonsky K 1995 Insulin secretory defects in polycystic ovary syndrome. Relationship to insulin sensitivity and family history of non-insulin-dependent diabetes mellitus. J Clin Invest 96:520-527
39. Bond GL, Hu W, Bond EE, Robins H, Lutzker SG, Arva NC, Bargonetti J, Bartel F, Taubert H, Wuerl P, Onel K, Yip L, Hwang SJ, Strong LC, Lozano G, Levine AJ 2004 A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 119:591-602
40. Wickenheisser JK, Nelson-DeGrave VL, Quinn PG, McAllister JM 2004 Increased cytochrome P450 17α-hydroxylase promoter function in theca cells isolated from patients with polycystic ovary syndrome involves nuclear factor-1. Mol Endocrinol 18:588-605
41. Samson SL, Wong NC 2002 Role of Sp1 in insulin regulation of gene expression. J Mol Endocrinol 29:265-279
42. Li T, Chen YH, Liu TJ, Jia J, Hampson S, Shan YX, Kibler D, Wang PH 2003 Using DNA microarray to identify Sp1 as a transcriptional regulatory element of insulin-like growth factor 1 in cardiac muscle cells. Circ Res 93:1202-1209
43. Rosenfield RL, Perovic N, Ehrmann DA, Barnes RB 1996 Acute hormonal responses to the gonadotropin releasing hormone agonist leuprolide: dose-response studies and comparison to nafarelin. J Clin Endocrinol Metab 81:3408-3411