Fertility and Sterility
Volume 89, Issue 5 , Pages 1213-1220 , May 2008

A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome

  • Eung-Ji Lee, M.Sc.

      Affiliations

    • Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul, South Korea
    • ,
  • Bermseok Oh, Ph.D.

      Affiliations

    • Center for Genome Science, National Institute of Health, Seoul, South Korea
    • ,
  • Jong-Young Lee, Ph.D.

      Affiliations

    • Center for Genome Science, National Institute of Health, Seoul, South Korea
    • ,
  • Kuchan Kimm, M.D., Ph.D.

      Affiliations

    • Center for Genome Science, National Institute of Health, Seoul, South Korea
    • ,
  • Sook-Hwan Lee, M.D., Ph.D.

      Affiliations

    • Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul, South Korea
    • ,
  • Kwang-Hyun Baek, Ph.D.

      Affiliations

    • Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul, South Korea
    • Corresponding Author InformationReprint requests: Kwang-Hyun Baek, Ph.D., Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, 606-16 Yeoksam 1-Dong, Kangnam-Gu, Seoul 135-907, Korea (FAX: +82-2-3468-3264).

Received 18 December 2006 ,Revised 4 April 2007 ,Accepted 11 May 2007.

References 

  1. Sheehan MT. Polycystic ovarian syndrome: diagnosis and management. Clin Med Res. 2004;2:13–27
  2. Byun EK, Kim HJ, Oh JY, Hong YS, Sung YA. The prevalence of polycystic ovary syndrome in college students from Seoul. J Kor Soc Endocrinol. 2005;20:120–126
  3. The Rotterdam ESHRE/ASRM-sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and long health risks related to polycystic ovary syndrome. Hum Reprod. 2004;19:41–47
  4. Rotterdam ESHRE/ASRM-sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril. 2004;81:19–25
  5. Escobar-Morreale HF, Luque-Ramirez M, San Millan JL. The molecular-genetic basis of functional hyperandrogenism and the polycystic ovary syndrome. Endocr Rev. 2005;26:251–282
  6. Legro RS, Kunselman AR, Dodson WC, Dunaif A. 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. 1999;84:165–169
  7. Cascella T, Palomba S, Tauchmanova L, Manguso F, Di Biase S, Labella D, et al. Serum aldosterone concentration and cardiovascular risk in women with polycystic ovarian syndrome. J Clin Endocrinol Metab. 2006;91:4395–4400
  8. Legro RS, Driscoll D, Strauss JF, Fox J, Dunaif A. Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci USA. 1998;95:14956–14960
  9. Baillargeon JP, Nestler JE. Commentary: polycystic ovary syndrome: a syndrome of ovarian hypersensitivity to insulin?. J Clin Endocrinol Metab. 2006;91:22–24
  10. Poretsky L, Cataldo NA, Rosenwaks Z, Giudice LC. The insulin-related ovarian regulatory system in health and disease. Endocr Rev. 1999;20:535–582
  11. Ottensmeyer FP, Beniac DR, Luo RZ, Yip CC. Mechanism of transmembrane signaling: insulin binding and the insulin receptor. Biochemistry. 2000;39:12103–12112
  12. Saltiel AR. Diverse signaling pathways in the cellular actions of insulin. Am J Physiol. 1996;270:E375–E385
  13. Virkamaki A, Ueki K, Kahn CR. Protein-protein interaction in insulin signaling and the molecular mechanisms of insulin resistance. J Clin Invest. 1999;103:931–943
  14. Lin TC, Yen JM, Gong KB, Kuo TC, Ku DC, Liang SF, et al. Abnormal glucose tolerance and insulin resistance in polycystic ovary syndrome amongst the Taiwanese population- not correlated with insulin receptor substrate-1 Gly972Arg/Ala513Pro polymorphism. BMC Med Genet. 2006;7:36
  15. White MF, Yenush L. The IRS-signaling system: a network of docking proteins that mediate insulin and cytokine action. Curr Top Microbiol Immunol. 1998;228:179–208
  16. Dunaif A, Wu X, Lee A, Diamanti-Kandarakis E. Defects in insulin receptor signaling in vivo in the polycystic ovary syndrome (PCOS). Am J Physiol Endocrinol Metab. 2001;281:E392–E399
  17. Lawrence JC, Roach PJ. New insights into the role and mechanism of glycogen synthase activation by insulin. Diabetes. 1997;46:541–547
  18. Venkatesan AM, Dunaif A, Corbould A. Insulin resistance in polycystic ovary syndrome: progress and paradoxes. Recent Prog Horm Res. 2001;56:295–308
  19. Kim YB, Nikoulina SE, Ciaraldi TP, Henry RR, Kahn BB. Normal insulin-dependent activation of Akt/protein kinase B, with diminished activation of phosphoinositide 3-kinase, in muscle in type 2 diabetes. J Clin Invest. 1999;104:733–741
  20. Kim J, Park J, Kim S, Choi Y, Shin C, Moon S, et al. Clinical study on infertile women with oligomenorrhea. Kor J Obstet Gynecol. 1995;38:824–826
  21. Carmina E, Rosato F, Janni A, Rizzo M, Longo RA. Relative prevalence of different androgen excess disorders in 950 women referred because of clinical hyperandrogenism. J Clin Endocrinol Metab. 2006;91:2–6
  22. Jung HY, Park JS, Park YJ, Kim YJ, Kimm K, Kho I. HapAnalyzer: Minimum haplotype analysis system for association studies. Genomics Inform. 2004;2:107–109
  23. Griffin ME, Marcucci MJ, Cline GW, Bell K, Barucci N, Lee D, et al. Free fatty acid-induced insulin resistance is associated with activation of protein kinase C theta and alterations in the insulin signaling cascade. Diabetes. 1999;48:1270–1274
  24. Gao Z, Zhang X, Zuberi A, Hwang D, Quon MJ, Lefevre M, et al. Inhibition of insulin sensitivity by free fatty acids requires activation of multiple serine kinases in 3T3-L1 adipocytes. Mol Endocrinol. 2004;18:2024–2034
  25. Hotamisligil GS, Peraldi P, Budavari A, Ellis R, White MF, Spiegelman BM. IRS-1-mediated inhibition of insulin receptor tyrosine kinase activity in TNF-alpha- and obesity-induced insulin resistance. Science. 1996;271:665–668
  26. Maddux BA, Sbraccia P, Kumakura S, Sasson S, Youngren J, Fisher A, et al. Membrane glycoprotein PC-1 and insulin resistance in non-insulin-dependent diabetes mellitus. Nature. 1995;373:448–451
  27. Tucci S, Futterweit W, Concepcion ES, Greenberg DA, Villanueva RB, Davies TF, et al. Evidence for association of polycystic ovary syndrome in Caucasian women with a marker at the insulin receptor gene locus. J Clin Endocrinol Metab. 2001;86:446–449
  28. Urbanek M, Woodroffe A, Ewens KG, Diamanti-Kandarakis E, Legro RS, Strauss JF, et al. Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2. J Clin Endocrinol Metab. 2005;90:6623–6629
  29. Stewart DR, Dombroski B, Urbanek M, Ankener W, Ewens KG, Wood JR, et al. Fine mapping of genetic susceptibility to polycystic ovary syndrome on chromosome 19p13.2 and tests for regulatory activity. J Clin Endocrinol Metab. 2006;91:4112–4117
  30. Villuendas G, Escobar-Morreale HF, Tosi F, Sancho J, Moghetti P, San Millan JL. Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome. Fertil Steril. 2003;79:219–220
  31. Jin L, Huang HF, Jin F, Qian YL. Polymorphism in insulin receptor gene exon 17 in women with polycystic ovary syndrome. Zhonghua Fu Chan Ke Za Zhi. 2005;40:323–326
  32. Chen ZJ, Shi YH, Zhao YR, Li Y, Tang R, Zhao LX, et al. Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome. Zhonghua Fu Chan Ke Za Zhi. 2004;39:582–585
  33. Siegel S, Futterweit W, Davies TF, Concepcion ES, Greenberg DA, Villanueva R, et al. A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome. Fertil Steril. 2002;78:1240–1243
  34. Lee EJ, Yoo KJ, Kim SJ, Lee SH, Cha KY, Baek KH. Single nucleotide polymorphism in exon 17 of insulin receptor gene is not associated with polycystic ovary syndrome in a Korean population. Fertil Steril. 2006;86:380–384
  35. Greenfield JR, Campbell LV. Insulin resistance and obesity. Clin Dermatol. 2004;22:289–295
  36. Barber TM, McCarthy MI, Wass JA, Franks S. Obesity and polycystic ovary syndrome. Clin Endocrinol (Oxf). 2006;65:137–145
  37. Legro RS. Type 2 diabetes and polycystic ovary syndrome. Fertil Steril. 2006;86:S16–S17
  38. Legro RS, Bentley-Lewis R, Driscoll D, Wang SC, Dunaif A. Insulin resistance in the sisters of women with polycystic ovary syndrome: association with hyperandrogenemia rather than menstrual irregularity. J Clin Endocrinol Metab. 2002;87:2128–2133

 Supported by a grant from Korea Health 21 R&D Project, Ministry of Health & Welfare, Republic of Korea (01-PJ10-PG6-01GN13-0002).

PII: S0015-0282(07)01152-1

doi: 10.1016/j.fertnstert.2007.05.026

Fertility and Sterility
Volume 89, Issue 5 , Pages 1213-1220 , May 2008

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