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Journal of Assisted Reproduction and Genetics

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01.04.2009 | GENETICS

Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome

verfasst von: Tugba Unsal, Ece Konac, Ediz Yesilkaya, Akin Yilmaz, Aysun Bideci, Hacer Ilke Onen, Peyami Cinaz, Adnan Menevse

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 4/2009

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Abstract

Background

Polycystic ovary syndrome (PCOS), whose genetic basis is not completely well understood, is the most common endocrine disorder in women and it typically develops during adolescence. The aim of this study is to investigate the possible association between single nucleotide polymorphisms (SNPs) of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and PCOS in adolescent girls.

Methods

DNA samples from forty-four adolescent girls with PCOS and 50 healthy controls were analyzed by PCR-RFLP and direct DNA sequencing to determine the genotypic frequency of 17 different polymorphic loci on the FSHR (A307T, N680S), CYP17 (−34 T/C), CYP1A1 (T6235C), CAPN10 (44, 43, 19, 63), INSR (exon 17 C/T), SERPINE1 (4G/5G) genes. Genotyping of exon 12 (six polymorphisms) and intron 12 (one polymorphism) of INSR gene by direct DNA sequencing was performed for the first time in this study.

Results

No significant differences were observed in the genotype and allele distributions of above mentioned polymorphisms between cases and control groups.

Conclusion

Our data does not support an association between SNPs of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes and susceptibility to PCOS or related traits in Turkish adolescent girls.

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Franks S. Polycystic ovary syndrome in adolescents. Int J Obes. 2008;32(7):1035–41. doi:10.1038/ijo.2008.61.CrossRef

Ehrmann DA. Polycystic ovary syndrome. N Engl J Med. 2005;352(12):1223–36. doi:10.1056/NEJMra041536.PubMedCrossRef

Luque-Ramírez M, San Millán JL, Escobar-Morreale HF. Genomic variants in polycystic ovary syndrome. Clin Chim Acta. 2006;366(1–2):14–26. doi:10.1016/j.cca.2005.10.017.PubMedCrossRef

Valdés P, Cerda A, Barrenechea C, Kehr M, Soto C, Salazar LA. No association between common Gly972Arg variant of the insulin receptor substrate-1 and polycystic ovary syndrome in Southern Chilean women. Clin Chim Acta. 2008;390(1–2):63–6. doi:10.1016/j.cca.2007.12.018.PubMedCrossRef

Simoni M, Tempfer CB, Destenaves B, Fauser BC. Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Hum Reprod Update. 2008;14(5):459–84. doi:10.1093/humupd/dmn024.PubMedCrossRef

Davis D, Liu X, Segaloff DL. Identification of the sites of N-linked glycosylation on the follicle-stimulating hormone (FSH) receptor and assessment of their role in FSH receptor function. Mol Endocrinol. 1995;9(2):159–70. doi:10.1210/me.9.2.159.PubMedCrossRef

Hipkin RW, Liu X, Ascoli M. Truncation of the C-terminal tail of the follitropin receptor does not impair the agonist- or phorbol ester-induced receptor phosphorylation and uncoupling. J Biol Chem. 1995;270(44):26683–9. doi:10.1074/jbc.270.44.26683.PubMedCrossRef

de Castro F, Ruiz R, Montoro L, et al. Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone. Fertil Steril. 2003;80(3):571–6. doi:10.1016/S0015-0282(03)00795-7.PubMedCrossRef

Sudo S, Kudo M, Wada S, Sato O, Hsueh AJ, Fujimoto S. Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Mol Hum Reprod. 2002;8(10):893–9. doi:10.1093/molehr/8.10.893.PubMedCrossRef

10.

Orio F Jr, Ferrarini E, Cascella T, et al. Genetic analysis of the follicle stimulating hormone receptor gene in women with polycystic ovary syndrome. J Endocrinol Invest. 2006;29(11):975–82.PubMed

11.

Tong Y, Liao WX, Roy AC, Ng SC. Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome. Horm Metab Res. 2001;33(4):221–6. doi:10.1055/s-2001-14941.PubMedCrossRef

12.

Lazar L, Kauli R, Bruchis C, Nordenberg J, Galatzer A, Pertzelan A. Early polycystic ovary-like syndrome in girls with central precocious puberty and exaggerated adrenal response. Eur J Endocrinol. 1995;133(4):403–6. doi:10.1530/eje.0.1330403.PubMedCrossRef

13.

Carey AH, Waterworth D, Patel K, et al. Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Hum Mol Genet. 1994;3(10):1873–6. doi:10.1093/hmg/3.10.1873.PubMedCrossRef

14.

Diamanti-Kandarakis E, Bartzis MI, Zapanti ED, et al. Polymorphism T-->C (-34 bp) of gene CYP17 promoter in Greek patients with polycystic ovary syndrome. Fertil Steril. 1999;71(3):431–5. doi:10.1016/S0015-0282(98)00512-3.PubMedCrossRef

15.

Marszalek B, Laciński M, Babych N, et al. Investigations on the genetic polymorphism in the region of CYP17 gene encoding 5'-UTR in patients with polycystic ovarian syndrome. Gynecol Endocrinol. 2001;15(2):123–8. doi:10.1080/713602803.PubMedCrossRef

16.

Park JM, Lee EJ, Ramakrishna S, Cha DH, Baek KH. Association study for single nucleotide polymorphisms in the CYP17A1 gene and polycystic ovary syndrome. Int J Mol Med. 2008;22(2):249–54.PubMed

17.

Echiburú B, Pérez-Bravo F, Maliqueo M, Sánchez F, Crisosto N, Sir-Petermann T. Polymorphism T-->C (-34 base pairs) of gene CYP17 promoter in women with polycystic ovary syndrome is associated with increased body weight and insulin resistance: a preliminary study. Metabolism. 2008;57(12):1765–71. doi:10.1016/j.metabol.2008.08.002.PubMedCrossRef

18.

Babu KA, Rao KL, Kanakavalli MK, Suryanarayana VV, Deenadayal M, Singh L. CYP1A1, GSTM1 and GSTT1 genetic polymorphism is associated with susceptibility to polycystic ovaries in South Indian women. Reprod Biomed Online. 2004;9(2):194–200.PubMedCrossRef

19.

Esinler I, Aktas D, Otegen U, Alikasifoglu M, Yaralı H, Tuncbilek E. CYP1A1 gene polymorphism and polycystic ovary syndrome. Reprod Biomed Online. 2008;16(3):356–60.PubMed

20.

Gaasenbeek M, Powell BL, Sovio U, et al. Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone. J Clin Endocrinol Metab. 2004;89(5):2408–13. doi:10.1210/jc.2003-031640.PubMedCrossRef

21.

Wang Y, Wu X, Cao Y, Yi L, Chen J. A microsatellite polymorphism (tttta)n in the promoter of the CYP11a gene in Chinese women with polycystic ovary syndrome. Fertil Steril. 2006;86(1):223–6. doi:10.1016/j.fertnstert.2005.12.037.PubMedCrossRef

22.

Horikawa Y, Oda N, Cox NJ, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet. 2000;26(2):163–75. doi:10.1038/79876.PubMedCrossRef

23.

Baier LJ, Permana PA, Yang X, et al. A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. J Clin Invest. 2000;106:R69–73. doi:10.1172/JCI10665.PubMedCrossRef

24.

Wiltgen D, Furtado L, Kohek MB, Spritzer PM. CAPN10 UCSNP-43, UCSNP-19 and UCSNP-63 polymorphisms and metabolic syndrome in polycystic ovary syndrome. Gynecol Endocrinol. 2007;23(3):173–8. doi:10.1080/09513590701233661.PubMedCrossRef

25.

Márquez JL, Pacheco A, Valdés P, Salazar LA. Association between CAPN10 UCSNP-43 gene polymorphism and polycystic ovary syndrome in Chilean women. Clin Chim Acta. 2008;398(1–2):5–9. doi:10.1016/j.cca.2008.07.028.PubMedCrossRef

26.

Ehrmann DA, Schwarz PE, Hara M, et al. Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2002;87(4):1669–73. doi:10.1210/jc.87.4.1669.PubMedCrossRef

27.

Haddad L, Evans JC, Gharani N, et al. Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab. 2002;87(6):2606–10. doi:10.1210/jc.87.6.2606.PubMedCrossRef

28.

Seino S, Seino M, Bell GI. Human insulin-receptor gene. Diabetes. 1990;39(2):129–33. doi:10.2337/diabetes.39.2.129.PubMedCrossRef

29.

Siegel S, Futterweit W, Davies TF, 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(6):1240–3. doi:10.1016/S0015-0282(02)04241-3.PubMedCrossRef

30.

Chen ZJ, Shi YH, Zhao YR, et al. Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome. Zhonghua Fu Chan Ke Za Zhi. 2004;39(9):582–5.PubMed

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(5):323–6.PubMed

32.

Lee EJ, Oh B, Lee JY, Kimm K, Lee SH, Baek KH. A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome. Fertil Steril. 2008;89(5):1213–20. doi:10.1016/j.fertnstert.2007.05.026.PubMedCrossRef

33.

Diamanti-Kandarakis E, Palioniko G, Alexandraki K, Bergiele A, Koutsouba T, Bartzis M. The prevalence of 4G5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in polycystic ovarian syndrome and its association with plasma PAI-1 levels. Eur J Endocrinol. 2004;150(6):793–8. doi:10.1530/eje.0.1500793.PubMedCrossRef

34.

San Millán JL, Cortón M, Villuendas G, Sancho J, Peral B, Escobar-Morreale HF. Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity. J Clin Endocrinol Metab. 2004;89(6):2640–6. doi:10.1210/jc.2003-031252.PubMedCrossRef

35.

Walch K, Grimm C, Huber JC, Nagele F, Kolbus A, Hefler LA. A polymorphism of the plasminogen activator inhibitor-1 gene promoter and the polycystic ovary syndrome. Eur J Obstet Gynecol Reprod Biol. 2005;123(1):77–81. doi:10.1016/j.ejogrb.2005.07.002.PubMedCrossRef

36.

Karadeniz M, Erdogan M, Berdeli A, Saygili F, Yilmaz C. 4G/5G polymorphism of PAI-1 gene and Alu-repeat I/D polymorphism of TPA gene in Turkish patients with polycystic ovary syndrome. J Assist Reprod Genet. 2007;24(9):412–8. doi:10.1007/s10815-007-9160-7.PubMedCrossRef

37.

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(1):19–25. doi:10.1016/j.fertnstert.2003.10.004.CrossRef

38.

Sundblad V, Chiauzzi VA, Escobar ME, Dain L, Charreau EH. Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF). Mol Cell Endocrinol. 2004;222(1–2):53–9. doi:10.1016/j.mce.2004.05.002.PubMedCrossRef

39.

Yang CQ, Chan KY, Ngan HY, et al. Single nucleotide polymorphisms of follicle-stimulating hormone receptor are associated with ovarian cancer susceptibility. Carcinogenesis. 2006;27(7):1502–6. doi:10.1093/carcin/bgl014.PubMedCrossRef

40.

Onen IH, Ekmekci A, Eroglu M, Polat F, Biri H. The association of 5alpha-reductase II (SRD5A2) and 17 hydroxylase (CYP17) gene polymorphisms with prostate cancer patients in the Turkish population. DNA Cell Biol. 2007;26(2):100–7. doi:10.1089/dna.2006.0534.PubMedCrossRef

41.

Hirata H, Hinoda Y, Okayama N, et al. CYP1A1, SULT1A1, and SULT1E1 polymorphisms are risk factors for endometrial cancer susceptibility. Cancer. 2008;112(9):1964–73. doi:10.1002/cncr.23392.PubMedCrossRef

42.

Daimon M, Oizumi T, Saitoh T, et al. Calpain 10 gene polymorphisms are related, not to type 2 diabetes, but to increased serum cholesterol in Japanese. Diabetes Res Clin Pract. 2002;56(2):147–52. doi:10.1016/S0168-8227(01)00372-2.PubMedCrossRef

43.

Shima Y, Nakanishi K, Odawara M, Kobayashi T, Ohta H. Association of the SNP-19 genotype 22 in the calpain-10 gene with elevated body mass index and hemoglobin A1c levels in Japanese. Clin Chim Acta. 2003;336(1–2):89–96. doi:10.1016/S0009-8981(03)00320-6.PubMedCrossRef

44.

Orho-Melander M, Klannemark M, Svensson MK, Ridderstråle M, Lindgren CM, Groop L. Variants in the calpain-10 gene predispose to insulin resistance and elevated free fatty acid levels. Diabetes. 2002;51(8):2658–64. doi:10.2337/diabetes.51.8.2658.PubMedCrossRef

45.

Brown NJ, Murphey LJ, Srikuma N, Koschachuhanan N, Williams GH, Vaughan DE. Interactive effect of PAI-1 4G/5G genotype and salt intake on PAI-1 antigen. Arterioscler Thromb Vasc Biol. 2001;21(6):1071–7.PubMed

46.

Seino S, Seino M, Bell GI. Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction. Diabetes. 1990;39(1):123–8. doi:10.2337/diabetes.39.1.123.PubMedCrossRef

47.

Amato P, Simpson JL. The genetics of polycystic ovary syndrome. Best Pract Res Clin Obstet Gynaecol. 2004;18(5):707–18. doi:10.1016/j.bpobgyn.2004.05.002.PubMedCrossRef

48.

Conway GS, Conway E, Walker C, Hoppner W, Gromoll J, Simoni M. Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome. Clin Endocrinol (Oxf). 1999;51(1):97–9. doi:10.1046/j.1365-2265.1999.00745.x.CrossRef

49.

Liović M, Prezelj J, Kocijancic A, Majdic G, Komel R. CYP17 gene analysis in hyperandrogenised women with and without exaggerated 17-hydroxyprogesterone response to ovarian stimulation. J Endocrinol Invest. 1997;20(4):189–93.PubMed

50.

Gonzalez A, Abril E, Roca A, et al. Comment: CAPN10 alleles are associated with polycystic ovary syndrome. J Clin Endocrinol Metab. 2002;87(8):3971–6. doi:10.1210/jc.87.8.3971.PubMedCrossRef

51.

Vollmert C, Hahn S, Lamina C, et al. Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians. Am J Physiol Endocrinol Metab. 2007;292(3):E836–44. doi:10.1152/ajpendo.00584.2005.PubMedCrossRef

52.

Lee EJ, Yoo KJ, Kim SJ, Lee SH, Cha KY, Baek KH. Single nucleotide polymorphism in exon 17 of the insulin receptor gene is not associated with polycystic ovary syndrome in a Korean population. Fertil Steril. 2006;86(2):380–4. doi:10.1016/j.fertnstert.2005.12.073.PubMedCrossRef

Titel: Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome
verfasst von: Tugba Unsal
Ece Konac
Ediz Yesilkaya
Akin Yilmaz
Aysun Bideci
Hacer Ilke Onen
Peyami Cinaz
Adnan Menevse
Publikationsdatum: 01.04.2009
Verlag: Springer US
Erschienen in: Journal of Assisted Reproduction and Genetics / Ausgabe 4/2009
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-009-9308-8

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