The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Association of the Steroid Synthesis Gene Cyp11a with Polycystic Ovary Syndrome and Hyperandrogenism
Abstract
Biochemical data implicate an underlying disorder of androgen biosynthesis and/or metabolism in the aetiology of polycystic ovary syndrome (PCOS). We have examined the segregation of the genes coding for two key enzymes in the synthesis and metabolism of androgens, cholesterol side chain cleavage (CYP11a) and aromatase (CYP19), with PCOS in 20 multiply-affected families. All analyses excluded CYP19 cosegregation with PCOS, demonstrating that this locus is not a major determinant of risk for the syndrome. However, our results provide evidence for linkage to the CYP11a locus (NPL score = 3.03, p = 0.003). Parametric analysis using a dominant model suggests genetic heterogeneity, generating a maximum HLOD score of 2.7 (alpha = 0.63). An association study of 97 consecutively identified Europids with PCOS and matched controls demonstrates significant allelic association of a CYP11a 5' UTR pentanucleotide repeat polymorphism with hirsute PCOS subjects (p = 0.03). A strong association was also found between alleles of this polymorphism and total serum testosterone levels in both affected and unaffected individuals (p = 0.002). Our data demonstrate that variation in CYP11a may play an important role in the aetiology of hyperandrogenaemia which is a common characteristic of polycystic ovary syndrome.
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Cites
Franks, S. (1995) · New England Journal of Medicine · doi:10.1056/nejm199509283331307 · Cited by 2,463
Self-citationIto, Y., Fisher, C. R., Conte, F. A., Grumbach, M. M., & Simpson, E. R. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.24.11673 · Cited by 218 · cited 1×
“Conversely, two other studies have demonstrated cases in which aromatase deficiency was associated with hyperandrogenaemia (25, 26 ).”
Hereditary factors in the Stein-Leventhal syndrome
Cooper, H. E., Spellacy, W. N., Prem, K. A., & Cohen, W. D. (1968) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(15)33704-2 · Cited by 211
Gene structure of human cytochrome P-450(scc), cholesterol desmolase
MOROHASHI, K.-I., SOGAWA, K., OMURA, T., & FUJII-KURIYAMA, Y. (1987) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a121955 · Cited by 189
Moore, C. C., Brentano, S. T., & Miller, W. L. (1990) · Molecular and Cellular Biology · doi:10.1128/mcb.10.11.6013 · Cited by 118
Stone, D., & Hechter, O. (1955) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(55)90014-x · Cited by 56
Cited by
Diamanti-Kandarakis, E., & Dunaif, A. (2012) · Endocrine Reviews · doi:10.1210/er.2011-1034 · Cited by 1,947
Developmental origin of polycystic ovary syndrome—a hypothesis
Abbott, D., Dumesic, D., & Franks, S. (2002) · Journal of Endocrinology · doi:10.1677/joe.0.1740001 · Cited by 504
Self-citationPrevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS
Kahsar-Miller, M. D., Nixon, C., Boots, L. R., Go, R. C., & Azziz, R. (2001) · Fertility and Sterility · doi:10.1016/s0015-0282(00)01662-9 · Cited by 406
The role of genes and environment in the etiology of PCOS
Diamanti-Kandarakis, E., Kandarakis, H., & Legro, R. S. (2006) · Endocrine · doi:10.1385/endo:30:1:19 · Cited by 233
Molecular progress in infertility: polycystic ovary syndrome
Legro, R. S., & Strauss, J. F. (2002) · Fertility and Sterility · doi:10.1016/s0015-0282(02)03275-2 · Cited by 180
Metadata
- Authors
- Gharani, N., Waterworth, D. M., Batty, S., White, D., Gilling-Smith, C., Conway, G. S., McCarthy, M., Franks, S., & Williamson, R.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1997-03-01
- Volume
- 6
- Issue
- 3
- Pages
- 397-402
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2115135831
- Cited by
- 294
- References
- 6
- FWCI
- 11.65
- Type
- journal article
- Language
- en
- Open access
- closed
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- Gharani, N., Waterworth, D. M., Batty, S., White, D., Gilling-Smith, C., Conway, G. S., McCarthy, M., Franks, S., & Williamson, R. (1997). Association of the Steroid Synthesis Gene Cyp11a with Polycystic Ovary Syndrome and Hyperandrogenism. Human Molecular Genetics. https://doi.org/10.1093/hmg/6.3.397
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
