CYP1A1 gene polymorphism and polycystic ovary syndrome

Reproductive BioMedicine Online

Volumn 16, Issue 3, 2008, Pages 356-360

  Esinler, Ibrahim ^a   Aktas, Dilek ^a   Otegen, Umit ^a   Alikasifoglu, Mehmet ^a   Yarali, Hakan ^a   Tuncbilek, Ergul ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Catechol oestrogens; CYP1A1; Polycystic ovary syndrome; Polymorphism

Indexed keywords

CYTOCHROME P450 1A1; DNA; ISOLEUCINE; VALINE;

ADULT; ALLELE; ANOVULATION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DNA DENATURATION; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENOTYPE; HUMAN; HYPERANDROGENISM; OVARY POLYCYSTIC DISEASE; POLYMERASE CHAIN REACTION; TRANSVAGINAL ECHOGRAPHY;

EID: 41049116372     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)60596-2     Document Type: Article

References (38)

1. Babu KA, Rao KL, Kanakavalli MK et al. 2004 CYP1A1, GSTM1 and GS7T1 genetic polymorphism is associated with susceptibility to polycystic ovaries in South Indian women. Reproductive BioMedicine Online 9, 194-200.
2. Balen AH, Laven JS, Tan SL, Dewailly D 2003 Ultrasound assessment of the polycystic ovary: international consensus definitions. Human Reproduction Update 9, 505-514.
3. Blank SK, McCartney CR, Marshall JC 2006 The origins and sequelae of abnormal neuroendocrine function in polycystic ovary syndrome. Human Reproduction Update 12, 351-361.
4. Carey AH, Waterworth D, Patel K et al. 1994 Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Human Molecular Genetics 3, 1873-1876.
5. Carey AH, Chan KL, Short F et al. 1993 Evidence for a single gene effect causing polycystic ovaries and male pattern baldness. Clinical Endocrinology (Oxf) 38, 653-658.
6. Diamanti-Kandarakis E, Piperi C 2005 Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth. Human Reproduction Update 11, 631-643.
7. Diamanti-Kandarakis E, Bartzis MI, Bergiele AT et al. 2000 Microsatellite polymorphism (tttta)(n) at - 528 base pairs of gene CYP11alpha influences hyperandrogenemia in patients with polycystic ovary syndrome. Fertility and Sterility 73, 735-741.
8. Dunaif A, Graf M 1989 Insulin administration alters gonadal steroid metabolism independent of changes in gonadotropin secretion in insulin-resistant women with the polycystic ovary syndrome. Journal of Clinical Investigation 83, 23-29.
9. Ehrmann DA, Barnes RB, Rosenfield RL 1995 Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion. Endocrine Reviews 16, 322-353.
10. Escobar-Morreale HF, Luque-Ramirez M, San Millan JL 2005 The molecular-genetic basis of functional hyperandrogenism and the polycystic ovary syndrome. Endocrine Reviews 26, 251-282.
11. Escobar-Morreale HF, San Millan JL, Smith RR et al. 1999 The presence of the 21-hydroxylase deficiency carrier status in hirsute women: phenotype-genotype correlations. Fertility and Sterility 72, 629-638.
12. Esinler I, Aktas D, Alikasifoglu M et al. 2006 CYP1A1 gene polymorphism and risk of endometrial hyperplasia and endometrial carcinoma. International Journal of Gynecological Cancer 16, 1407-1411.
13. Ferriman D, Gallwey JD 1961 Clinical assessment of body hair growth in women. Journal of Clinical Endocrinology 21, 1440-1447.
14. Franks S 1995 Polycystic ovary syndrome. New England Journal of Medicine 333, 853-861.
15. Franks S, McCarthy M 2004 Genetics of ovarian disorders: polycystic ovary syndrome. Reviews in Endocrine and Metabolic Disorders 5, 69-76.
16. Franks S, Gharani N, Waterworth D et al. 1997 The genetic basis of polycystic ovary syndrome. Human Reproduction 12, 2641-2648.
17. Fratantonio E, Vicari E, Pafumi C, Calogero AE 2005 Genetics of polycystic ovarian syndrome. Reproductive BioMedicine Online 10, 713-720.
18. Gharani N, Waterworth DM, Batty S et al. 1997 Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism. Human Molecular Genetics 6, 397-402.
19. Gharani N, Waterworth DM, Williamson R, Franks S 1996 5 polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries. The Journal of Clinical Endocrinology and Metabolism 81, 4174.
20. Gilling-Smith C, Story H, Rogers V, Franks S 1997 Evidence for a primary abnormality of thecal cell steroidogenesis in the polycystic ovary syndrome. Clinical Endocrinology (Oxf) 47, 93-99.
21. Govind A, Obhrai MS, Clayton RN 1999 Polycystic ovaries are inherited as an autosomal dominant trait: analysis of 29 polycystic ovary syndrome and 10 control families. The Journal of Clinical Endocrinology and Metabolism 84, 38-43.
22. Hague WM, Adams J, Reeders ST et al. 1988 Familial polycystic ovaries: a genetic disease? Clinical Endocrinology (Oxf) 29, 593-605.
23. Hayashi SI, Watanabe J, Nakachi K, Kawajiri K 1991 PCR detection of an A/ G polymorphism within exon 7 of the CYP1A1 gene. Nucleic Acids Research 19, 4797.
24. Kahsar-Miller MD, Nixon C, Boots LR et al. 2001 Prevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS. Fertility and Sterility 75, 53-58.
25. Legro RS, Driscoll D, Strauss JF, 3rd et al. 1998 Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proceedings of the National Academy of Sciences of the United States of America 95, 14956-14960.
26. Leighton JK, Canning S, Guthrie HD, Hammond JM 1995 Expression of cytochrome P450 1A1, an estrogen hydroxylase, in ovarian granulosa cells is developmentally regulated. Journal of Steroid Biochemistry and Molecular Biology 52, 351-356.
27. Martucci CP, Fishman J 1993 P450 enzymes of estrogen metabolism. Pharmacology and Therapeutics 57, 237-257.
28. Miller SA, Dykes DD, Polesky HF 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 16, 1215.
29. Moudgal NR, Shetty G, Selvaraj N, Bhatnagar AS 1996 Use of a specific aromatase inhibitor for determining whether there is a role for oestrogen in follicle/oocyte maturation, ovulation and preimplantation embryo development. Journal of Reproduction and Fertility Supplement 50, 69-81.
30. Norman RJ, Masters S, Hague W 1996 Hyperinsulinemia is common in family members of women with polycystic ovary syndrome. Fertility and Sterility 66, 942-947.
31. San Millan JL, Sancho J, Calvo RM, Escobar-Morreale HF 2001 Role of the pentanucleotide (tttta)(n) polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism. Fertility and Sterility 75, 797-802.
32. Spicer LJ, Hammond JM 1989 Catecholestrogens inhibit proliferation and DNA synthesis of porcine granulosa cells in vitro: comparison with estradiol, 5 alpha-dihydrotestosterone, gonadotropins and catecholamines. Molecular and Cellular Endocrinology 64, 119-126.
33. Suryanarayana VJ, Lakshmi R, Kanakavalli MK et al. 2007 Role of CYP17 and CYP19 polymorphisms in idiopathic recurrent miscarriages among South Indian women. Reproductive BioMedicine Online 14, 341-347.
34. Taioli E, Trachman J, Chen X et al. 1995 A CYP1A1 restriction fragment length polymorphism is associated with breast cancer in African-American women. Cancer Research 55, 3757-3758.
35. The Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Working Group 2004 Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Human Reproduction 19, 41-47.
36. Urbanek M, Legro RS, Driscoll DA et al. 1999 Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin. Proceedings of the National Academy of Sciences of the United States of America 96, 8573-8578.
37. Utiger RD 1996 Insulin and the polycystic ovary syndrome. New England Journal of Medicine 335, 657-658.
38. Yager JD, Liehr JG 1996 Molecular mechanisms of estrogen carcinogenesis. Annual Review of Pharmacology and Toxicology 36, 203-232.