Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism

Human Molecular Genetics

Volumn 6, Issue 3, 1997, Pages 397-402

  Gharani, Neda ^a   Waterworth, Dawn M ^a   Batty, Sari ^a   White, Davinia ^a   Gilling Smith, Carole ^a   Conway, Gerard S ^b   McCarthy, Mark ^a   Franks, Stephen ^a   Williamson, Robert ^a,c  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b MIDDLESEX HOSPITAL   (United Kingdom)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATASE; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); REPETITIVE DNA; TESTOSTERONE;

ARTICLE; DNA POLYMORPHISM; FEMALE; GENE SEGREGATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; HYPERANDROGENISM; MAJOR CLINICAL STUDY; MALE; OVARY POLYCYSTIC DISEASE; PRIORITY JOURNAL; STEROIDOGENESIS; TESTOSTERONE BLOOD LEVEL;

AROMATASE; CASE-CONTROL STUDIES; CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; GENETIC MARKERS; GENOTYPE; HIRSUTISM; HUMANS; HYPERANDROGENISM; INFERTILITY; LINKAGE (GENETICS); LOD SCORE; MALE; POLYCYSTIC OVARY SYNDROME; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID; TESTOSTERONE;

EID: 0031049755     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.3.397     Document Type: Article

References (39)

1. Adams, J., Poison, D.W., Franks,S. (1986) Prevalence of polycystic ovaries in women with anovulation and idiopathic hirsutism. B. M. J. 293, 355-359.
2. Hull, M.G (1987) Epidemiology of infertilityand polycystic ovarian disease: endocrinological and demographic studies. Gvnecol. Endocrinol. 1, 235-245.
3. Fox, R., Corrigan, E., Thomas, P.A. and Hull, M.G.R. (1991) The diagnosis of polycystic ovaries in women with oligo-amenorrhoea: predictive power of endocrine tests. Clin. Endocrinol. (Oxf) 34, 127-131.
4. Polson, D.W., Adams, J., Wadsworth, J. and Franks, S. (1988) Polycystic ovaries - a common finding in normal women. Lancet i, 870-872.
5. Cooper, H.E., Spellacy, W.N., Prem, K.A. and Cohen, W.D. (1968) Hereditary factors in the Stein-Leventhal syndrome. Am. J. Obstet. Gynecol. 100, 371-387.
6. Ferriman, D.and Purdie, A.W. (1979) The inheritance of polycystic ovarian disease and a possible relationship to premature balding. Clin. Endocrinol. (Oxf) 11, 291-300.
7. Givens, J.R. (1988) Familial polycystic ovarian disease. Endocrinol. Metab. Clin. North Am. 17, 771-783.
8. Hague, W.M., Adams, J., Reeders, S.T., Peto, T.E.and Jacobs, H.S. (1988) Familial polycystic ovaries: a genetic disease? Clin. Endocrinol. (Oxf) 29, 593-605.
9. Lunde, O., Magnus, P., Sandvik, L. and Hoglo, S. (1989) Familial clustering in the polycystic ovarian syndrome. Gynecol. Obstet. Invest. 28, 23-30.
10. Simpson, J.L. (1992) Elucidating the genetics of polycystic ovary syndrome. In: Dunaif, A., Givens, J.R., Haseltine, F.P., Merriam, G.R., eds. Polycystic Ovary Syndrome. Oxford, England: Blackwell Scientific, 59-77.
11. Carey, A.H., Chan, K.L., Short, F., White,D., Williamson, R. and Franks, S. (1993) Evidence for a single gene effect causing polycystic ovaries and male pattern baldness. Clin. Endocrinol. 38, 653-658.
12. Legro, R.S. (1995) The genetics of polycystic ovary syndrome. Am. J. Med. 98, 9S-16S.
13. Franks, S. (1989) Polycystic ovary syndrome: A changing perspective. Clin. Endocrinol. 31, 87-120.
14. Franks, S. (1991) The ubiquitous polycystic ovary. J. Endocrinol. 129, 317-319.
15. Stephens, J., Carey, A.H., Short, F., Williamson, R. and Franks, S. (1993) Premature balding, the male phenotype of polycystic ovaries (PCO). J. Endocrinol. 139, 031.
16. Hamilton, J. B. (1942) Male hormone stimulation is a prerequisite and an incitant in common baldness. Am. J. Anat. 71, 451-480.
17. Ebling, F.J.G. (1987) The biology of hair. Dermatol. Clin. 5, 467-481.
18. Lobo, R.A. (1991) Hirsutism in polycystic ovary syndrome: current concepts. Clin. Obstet. Gynecol. 34, 817-826.
19. Randall, V.A., Thorton, M.S., Hamada, K., Messenger, A.G (1992) Mechanisms of androgen action in cultured dermal papilla cells derived from human hair follicles with varying response to androgens in vivo. J. Invest. Dermatol. 98, 865-915.
20. Barth, J.H. (1988) Alopecia and hirsuties: current concepts in pathogenesis and management. Drugs 35, 83-91.
21. Gilling-Smith, C., Willis, D.S., Beard, R.W. and Franks, S. (1994) Hypersecretion of androstenedione by isolated thecal cells from polycystic ovaries. J. Clin. Endocrinol. Metab. 79, 1158-1165.
22. Stone, D. and Hechter, O. (1955) Studies on ACTH action in perfused bovine adrenals: aspects of progesterone as an intermediary in corticosteroidogenesis. Arch. Biochem. Biophys. 54, 121.
23. Halkerston, I.D.K., Eichhorn, J. and Hechter, O. (1961) A requirement for reduced triphosphopyridine nucleotide for cholesterol side-chain cleavage by mitochondrial fractions of bovine adrenal cortex. J. Biol. Chem. 236, 374.
24. Mason, H.D., Willis, D.S., Beard, R.W., Winston. R.M.L., Margara, R. and Franks, S. (1994) Estradiol production by Granulosa cells of normal and polycystic ovaries: Relationship to menstrual cycle history and concentrations of gonadotropins and sex steroids in follicular fluid. J. Clin. Endocrinol. Metab. 79, 1355-1360.
25. Harada, N., Ogawa, H., Shozu, M. and Yamada,K. (1992) Genetic studies to characterise the origin of the mutation in placental aromatase deficiency. Am. J. Hum. Genet. 51, 666-667.
26. Ito, Y., Fisher, C.R., Conte, F.A., Grumbach, M.M. and Simpson, E.R. (1993) Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc. Natl. Acad. Sci. USA 90, 11673-11677.
27. Kruglyak, L., Daly, M.J., Reeve-Daly, M.P. and Lander, E.S. (1996) Parametric and non-parametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58, 1347-1363.
28. Lander, E.S. and Kruglyak, L. (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet. 11, 241-247.
29. Moore, C.C.D., Brentano, S. T. and Miller, W. L. (1990) Human P450scc gene transcription is induced by cyclic AMP and repressed by 12-O-tetradecanoylphorbol-13-acetate and A23187 through independent cis elements. Mol. Cell. Biol. 10, 6013-6023.
30. Kennedy GC German, M.S., Rutter, W.J. (1995) The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nature Genet. 9, 293-298.
31. Mooser, V., Francesco, P.M., Bopp, S., Petho-Schramm, A., Guerra, R., Boerwinkle, E., Muller, Hans-Joachin and Hobbs, H.H. (1995) Sequence polymorphisms in the Apo(a) gene associated with specific levels of Lp(a) in plasma. Hum. Mol. Genet. 4, 173-181.
32. Wade, D.P., Clarke, J.G., Lindahl, G.E., Liu, A.C., Zysow, B.R., Meer, K., Shwartz, K.S. and Lawn, R.M. (1993) 5' control regions of the apolipoprotein(a) gene and members of the related plasminogen gene family. Proc. Natl. Acad. Sci. USA 90, 1369-1373.
33. Lesko, S.M., Rosenberg, L. and Sharpiro, S. (1993) A case control study of baldness in relation to myocardial infarction in men. Proc. Natl. Acad. Sci. USA 81, 3443-3446.
34. Ferriman, D.and Gallwey, J. (1961) Clinical assessment of hair growth in women. J. Clin. Metab. 21, 1440-1445.
35. Morohashi, K., Sogawa, K., Omura, T. and Fujii-kuriyama Y. (1987) Gene structure of human cytochrome P-450 (SCC), cholesterol desmolase. J. Biochem. 101, 879-887.
36. Beckmann, J.S., Tomfohrde, J., Barnes, R.I., Williams, M., Broux, O., Richard, I., Weissenbach, J., Bowcock, A.M. (1993) A linkage map of human chromosome 15 with an average resolution of 2cM and containing 55 polymorphic microsatellites. Hum. Mol. Genet. 2, 2019-2030.
37. Gyapay, G., Morrisette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M., Weissenbach, J. (1994) The 1993-1994 Genethon human genetic linkage map. Nature Genet. 7, 246-339.
38. Polymeropoulos, M.H., Xiao, H., Rath, D. S. and Merril, C. R. (1991) Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19). Nucleic Acids Res. 19, 195.
39. Weber, J.L.,and May, P. E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44, 388-396.