Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 12, 2005, Pages 6623-6629

  Urbanek, M ^a   Woodroffe, A ^b,e   Ewens, K G ^b   Diamanti Kandarakis, E ^c   Legro, R S ^d   Strauss III, J F ^b   Dunaif, A ^a   Spielman, R S ^b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^d PENN STATE COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BLOOD SAMPLING; CHROMOSOME 19P; CHROMOSOME STRUCTURE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA EXTRACTION; EUROPE; FAMILIAL DISEASE; FEMALE; GENE LOCATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; HEALTH CENTER; HUMAN; MAJOR CLINICAL STUDY; OVARY POLYCYSTIC DISEASE; PARENT; PATHOGENESIS; PRIORITY JOURNAL; SHORT TANDEM REPEAT; SIBLING;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); POLYCYSTIC OVARY SYNDROME; SIBLINGS; TANDEM REPEAT SEQUENCES;

EID: 28744435194     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-0622     Document Type: Article

References (40)

1. Diamanti-Kandarakis E, Kouli CR, Bergiele AT, Filandra FA, Tsianateli TC, Spina GG, Zapanti ED, Bartzis MI 1999 A survey of the polycystic ovary syndrome in the Greek island of Lesbos: hormonal and metabolic profile. J Clin Endocrinol Metab 84:4006-4011
2. Knochenhauer ES, Key TJ, Kahsar-Miller M, Waggoner W, Boots LR, Azziz R 1998 Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern United States: a prospective study. J Clin Endocrinol Metab 83:3078-3082
3. Balen AH, Conway GS, Kaltsas G, Techatrasak K, Manning PJ, West C, Jacobs HS 1995 Polycystic ovary syndrome: the spectrum of the disorder in 1741 patients. Hum Reprod 10:2107-2111
4. Conway GS, Honour JW, Jacobs HS 1989 Heterogeneity of the polycystic ovary syndrome: clinical, endocrine and ultrasound features in 556 patients. Clin Endocrinol (Oxf) 30:459-470
5. Burghen GA, Givens JR, Kitabchi AE 1980 Correlation of hyperandrogenism with hyperinsulinism in polycystic ovarian disease. J Clin Endocrinol Metab 50:113-116
6. Dunaif A, Segal KR, Futterweit W, Dobrjansky A 1989 Profound peripheral insulin resistance, independent of obesity, in polycystic ovary syndrome. Diabetes 38:1165-1174
7. Cotrozzi G, Matteini M, Relli P, Lazzari T 1983 Hyperinsulinism and insulin resistance in polycystic ovarian syndrome: a verification using oral glucose, I.V. Glucose and tolbutamide. Acta Diabetol Lat 20:135-142
8. Ehrmann DA, Sturis J, Byrne MM, Karrison T, Rosenfield RL, Polonsky KS 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
9. Dunaif A, Graf M, Mandeli J, Laumas V, Dobrjansky A 1987 Characterization of groups of hyperandrogenic women with acanthosis nigricans, impaired glucose tolerance, and/or hyperinsulinemia. J Clin Endocrinol Metab 65:499-507
10. Dunaif A, Segal KR, Shelley DR, Green G, Dobrjansky A, Licholai T 1992 Evidence for distinctive and intrinsic defects in insulin action in polycystic ovary syndrome. Diabetes 41:1257-1266
11. Legro RS, Kunselman A, Dodson WC, Dunaif A 1999 Prevalence and predictors of risk for type 2 diabetes mellitus and impaired glucose tolerance in polycystic ovary syndrome: a prospective, controlled study in 254 affected women. J Clin Endocrinol Metab 84:165-169
12. Orio Jr F, Palomba S, Spinelli L, Cascella T, Tauchmanova L, Zullo F, Lombardi G, Colao A 2004 The cardiovascular risk of young women with polycystic ovary syndrome: an observational, analytical, prospective casecontrol study. J Clin Endocrinol Metab 89:3696-3701
13. Elsenbruch S, Hahn S, Kowalsky D, Offner AH, Schedlowski M, Mann K, Janssen OE 2003 Quality of life, psychosocial well-being, and sexual satisfaction in women with polycystic ovary syndrome. J Clin Endocrinol Metab 88:5801-5807
14. Cronin L, Guyatt G, Griffith L, Wong E, Azziz R, Futterweit W, Cook D, Dunaif A 1998 Development of a health-related quality-of-life questionnaire (PCOSQ) for women with polycystic ovary syndrome (PCOS). J Clin Endocrinol Metab 83:1976-1987
15. Trent ME, Rich M, Austin SB, Gordon CM 2002 Quality of life in adolescent girls with polycystic ovary syndrome. Arch Pediatr Adolesc Med 156:556-560
16. Cooper HE, Spellacy WN, Prem KA, Cohen WD 1968 Hereditary factors in Stein-Leventhal syndrome. Am J Obstet Gynecol 100:371-387
17. Givens JR 1988 Familial polycystic ovarian disease. Endocrinol Metab Clin N Am 17:771-783
18. Legro RS, Driscoll D, Strauss 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
19. Urbanek M, Spielman RS 2002 Genetic analysis of candidate genes for the polycystic ovary syndrome. Curr Opin Endocrinol Diabetes 9:492-501
20. 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
21. Urbanek M, Legro RS, Driscoll D, Strauss III JF, Dunaif A, Spielman RS 2000 Searching for the polycystic ovary syndrome genes. J Pediatr Endocrinol Metab 13:1311-1313
22. 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 locus. J Clin Endocrinol Metab 86:446-449
23. Villuendas G, Escobar-Morreale HF, Tosi F, Sancho J, Moghetti P, San Millan JL 2003 Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome. Fertil Steril 79:219-220
24. Zawadski JK, Dunaif A 1992 Diagnostic criteria for polycystic ovary syndrome. In: Givens J, Haseltine F, Merriman G, eds. The polycystic ovary syndrome. Cambridge, MA: Blackwell Scientific; 377-384
25. The Rotterdam ESHRE/ASRM-sponsoredPCOSconsensus workshop group 2004 Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod 19:41-47
26. Carmina E, Lobo RA 1999 Do hyperandrogenic women with normal menses have polycystic ovary syndrome. Fertil Steril 71:319-322
27. Lander ES, Schork NJ 1994 Genetic dissection of complex traits. Science 265:2037-2048
28. Spielman RS, McGinnis RE, Ewens WJ 1993 Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
29. Suarez BK, Hodge SE 1979 A simple method to detect linkage for rare recessive diseases: an application to juvenile diabetes. Clin Genet 15:126-136
30. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES 1996 Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
31. Martin ER, Monks SA, Warren LL, Kaplan NL 2000 A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am J Hum Genet 67:146-154
32. Martin ER, Bass MP, Kaplan NL 2001 Correcting for a potential bias in the pedigree disequilibrium test. Am J Hum Genet 68:1065-1067
33. Reich DE, Cargill M, Bolk S, Ireland J, Sabeti PC, Richter DJ, Lavery T, Kouyoumjian R, Farhadian SF, Ward R, Lander ES 2001 Linkage disequilibrium in the human genome. Nature 411:199-204
34. Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES 2001 High-resolution haplotype structure in the human genome. Nat Genet 29:229-232
35. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D 2002 The structure of haplotype blocks in the human genome. Science 296:2225-2229
36. Altshuler D, Hirschhorn J, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, Lander ES 2000 The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80
37. Weedon MN, Schwarz PE, Horikawa Y, Iwasaki N, Illig T, Holle R, Rathmann W, Selisko T, Schulze J, Owen KR, Evans J, Del Bosque-Plata L, Hitman G, Walker M, Levy JC, Sampson M, Bell GI, McCarthy MI, Hattersley AT, Frayling TM 2003 Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet 73:1208-1212
38. 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
39. Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D, Nakabayashi K, Scherer SW, Heutink P, Hill RE, Noji S 2002 Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci USA 99:7548-7553
40. Nobrega MA, Ovcharenko I, Afzal V, Rubin EM 2003 Scanning human gene deserts for long-range enhancers. Science 302:413