The role of genes and environment in the etiology of PCOS

作者: Evanthia Diamanti-Kandarakis , Helen Kandarakis , Richard S. Legro

DOI: 10.1385/ENDO:30:1:19

关键词: Genetic associationGeneInsulin receptorObesityDiabetes mellitusInsulinInsulin resistanceGeneticsBiologyPhenotype

摘要: Both genes and the environment contribute to PCOS. Obesity, exacerbated by poor dietary choices physical inactivity, worsens PCOS in susceptible individuals. The role of other environmental modifiers such as infectious agents or toxins are speculative. Phenotype confusion has characterized genetic studies Although several loci have been proposed including CYP11A, insulin gene, follistatin a region near receptor, evidence supporting linkage is not overwhelming. strongest case can be made for recept gene (but involving this gene), it identified two separate studies, perhaps most importantly yet refuted larger studies. However, responsible at chromosome 19p13.3 remains identified. To date, no that causes contributes substantially development phenotype.

参考文章(49)
Shayesteh Jahanfar, John A Eden, Peter Warren, Markku Seppälä, Tuan V Nguyen, None, A twin study of polycystic ovary syndrome. Fertility and Sterility. ,vol. 63, pp. 478- 486 ,(1995) , 10.1016/S0015-0282(16)57412-3
H.E. Cooper, W.N. Spellacy, K.A. Prem, W.D. Cohen, Hereditary factors in the Stein-Leventhal syndrome American Journal of Obstetrics and Gynecology. ,vol. 100, pp. 371- 387 ,(1968) , 10.1016/S0002-9378(15)33704-2
Lon R Cardon, John I Bell, None, Association study designs for complex diseases Nature Reviews Genetics. ,vol. 2, pp. 91- 99 ,(2001) , 10.1038/35052543
Robert M. Bigsby, Nira Ben-Jonathan, Rosemary Steinmetz, Andrea Caperell-Grant, Peter C. M. Young, Edward A. Gize, Burra V. Madhukar, Novel Estrogenic Action of the Pesticide Residue β-Hexachlorocyclohexane in Human Breast Cancer Cells Cancer Research. ,vol. 56, pp. 5403- 5409 ,(1996)
W J Ewens, R S Spielman, The TDT and other family-based tests for linkage disequilibrium and association. American Journal of Human Genetics. ,vol. 59, pp. 983- 989 ,(1996)
Nikhil V. Dhurandhar, Leah D. Whigham, David H. Abbott, Nancy J. Schultz-Darken, Barbara A. Israel, Steven M. Bradley, Joseph W. Kemnitz, David B. Allison, Richard L. Atkinson, Human Adenovirus Ad-36 Promotes Weight Gain in Male Rhesus and Marmoset Monkeys Journal of Nutrition. ,vol. 132, pp. 3155- 3160 ,(2002) , 10.1093/JN/131.10.3155
S Jahanfar, H Maleki, A-R Mosavi, M Jahanfar, Leptin and its association with polycystic ovary syndrome: a twin study. Gynecological Endocrinology. ,vol. 18, pp. 327- 334 ,(2004) , 10.1080/09513590410001667256
R. S. Legro, D. Driscoll, J. F. Strauss, J. Fox, A. Dunaif, Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome Proceedings of the National Academy of Sciences of the United States of America. ,vol. 95, pp. 14956- 14960 ,(1998) , 10.1073/PNAS.95.25.14956
M. Urbanek, R. S. Legro, D. A. Driscoll, R. Azziz, D. A. Ehrmann, R. J. Norman, J. F. Strauss, R. S. Spielman, A. Dunaif, 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. ,vol. 96, pp. 8573- 8578 ,(1999) , 10.1073/PNAS.96.15.8573
WILLIAM M. HAGUE, JUDITH ADAMS, STEPHEN T. REEDERS, TIMOTHY E. A. PETO, HOWARD S. JACOBS, FAMILIAL POLYCYSTIC OVARIES: A GENETIC DISEASE? Clinical Endocrinology. ,vol. 29, pp. 593- 605 ,(1988) , 10.1111/J.1365-2265.1988.TB03707.X