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Genetic Variants of CYP11B2 and CYP1A1 Among the North-Indian Punjabi Females with Polycystic Ovary Syndrome

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초록

Polycystic ovary syndrome (PCOS) is a complex endocrinopathy in women of reproductive age. The genetics of PCOS is heterogeneous with the involvement of number of genes in the steroid synthesis pathway. The CYP11B2 encodes aldosterone synthase and the genetic variants might increase aldosterone secretion in PCOS cases. CYP1A1 is known to enhance the intraovarian catechol estrogen production and thus the propensity for PCOS. The present case-control study analyzed a total of 619 females for CYP11B2 (rs1799998) and CYP1A1 (rs4646903) polymorphisms. Obesity was examined according to body mass index (BMI) and waist hip ratio (WHR) categorization. Biochemical (lipid profile) analysis was performed in PCOS females. BMI (P=0.0001) and WHR (P=0.0001) revealed a statistically significant difference between PCOS cases and controls. The overall levels of triglycerides were higher in PCOS females. The genotype frequency distribution of CYP11B2 (rs1799998) polymorphism revealed statistically significant difference between PCOS cases and controls (P=0.017). However, CYP1A1 (rs4646903) polymorphism did not showed any association with PCOS. The present case-control association analysis is first from our region for CYP1A1 and CYP11B2 polymorphisms and is suggestive of genetic predisposition of steroidogenic genes among PCOS patients in the North-Indian Punjabi females.

Abstract

Polycystic ovary syndrome (PCOS) is a complex endocrinopathy in women of reproductive age. The genetics of PCOS is heterogeneous with the involvement of number of genes in the steroid synthesis pathway. The CYP11B2 encodes aldosterone synthase and the genetic variants might increase aldosterone secretion in PCOS cases. CYP1A1 is known to enhance the intraovarian catechol estrogen production and thus the propensity for PCOS. The present case-control study analyzed a total of 619 females for CYP11B2 (rs1799998) and CYP1A1 (rs4646903) polymorphisms. Obesity was examined according to body mass index (BMI) and waist hip ratio (WHR) categorization. Biochemical (lipid profile) analysis was performed in PCOS females. BMI (P=0.0001) and WHR (P=0.0001) revealed a statistically significant difference between PCOS cases and controls. The overall levels of triglycerides were higher in PCOS females. The genotype frequency distribution of CYP11B2 (rs1799998) polymorphism revealed statistically significant difference between PCOS cases and controls (P=0.017). However, CYP1A1 (rs4646903) polymorphism did not showed any association with PCOS. The present case-control association analysis is first from our region for CYP1A1 and CYP11B2 polymorphisms and is suggestive of genetic predisposition of steroidogenic genes among PCOS patients in the North-Indian Punjabi females.

참고문헌 (38)

  1. Stein IF, "Amenorrhea associated with bilateral polycystic ovaries", Am J Obstet Gynecol, 29, pp.181~191 (1935)[DOI]
  2. Jamshidi M, "Genetic polymorphisms associated with polycystic ovary syndrome among Iranian women", Int J Gynaecol Obstet, 153, pp.33~44 (2021)[DOI]
  3. Akgül S, "CYP1A1 polymorphism in adolescents with polycystic ovary syndrome", Int J Gynaecol Obstet, 112, pp.8~10 (2011)[DOI]
  4. Nidhi R, "Prevalence of polycystic ovarian syndrome in Indian adolescents", J Pediatr Adolesc Gynecol, 24, pp.223~227 (2011)[DOI]
  5. Rotterdam ESHRE, "ASRM-Sponsored PCOS Consensus Workshop Group", Revised 2003 consensus on diagnostic criteria and longterm health risks related to polycystic ovary syndrome, 2004, pp.19, 41~47
  6. M. Peter, "Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies", Hormone Research in Paediatrics, 51(5), pp.211~222 (1999), S. Karger AG[DOI]
  7. Bress A, "Association of aldosterone synthase polymorphism(CYP11B2-344T>C)and genetic ancestry with atrial fibrillation and serum aldosterone in African Americans with heart failure", PLoS One, 8, pp.e71268~ (2013)[DOI]
  8. Lim PO, "Variation at the aldosterone synthase(CYP11B2)locus contributes to hypertension in subjects with a raised aldosterone-to-renin ratio", J Clin Endocrinol Metab, 87, pp.4398~4402 (2002)[DOI]
  9. Conn JW, "Hypertension, the potassium ion and impaired carbohydrate tolerance", N Engl J Med, 273, pp.1135~1143 (1965)[DOI]
  10. Hitomi H, "Aldosterone suppresses insulin signaling via the own regulation of insulin receptor substrate-1 in vascular smooth muscle cells", Hypertension, 50, pp.750~755 (2007)[DOI]
  11. Shen W, "CYP1A1 gene polymorphisms and polycystic ovary syndrome risk, a meta-analysis and meta-regression", Genet Test Mol Biomarkers, 17, pp.727~735 (2013)[DOI]
  12. KhlifiR, "Polymorphisms in the human cytochrome P450 and arylamine N-acetyltransferase : susceptibility to head and neck cancers", Biomed Res Int, 2013, pp.582768~ (2013)[DOI]
  13. R Yang X, "Influence of glutathione-S-transferase(GSTM1, GSTP1, GSTT1)and cytochrome p450(CYP1A1, CYP2D6)polymorphisms on numbers of basal cell carcinomas(BCCs)in families with the naevoid basal cell carcinoma syndrome", J Med Genet, 43, pp.e16~ (2006)[DOI]
  14. Skol AD, "Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies", Nat Genet, 38, pp.209~213 (2006)[DOI]
  15. Balen AH, "The influence of body weight on response to ovulation induction with gonadotrophins in 335 women with World Health Organization group II anovulatory infertility", BJOG, 113, pp.1195~1202 (2006)[DOI]
  16. van der Steeg JW, "Obesity affects spontaneous pregnancy chances in subfertile, ovulatory women", Hum Reprod, 23, pp.324~328 (2008)[DOI]
  17. World Health Organisation Expert Consultation, "Appropriate body-mass index for Asian populations and its implications for policy and intervention for strategies", Lancet, 363, pp.157~163 (2004)[DOI]
  18. Rosenfield RL, "The pathogenesis of polycystic ovary syndrome(PCOS) : the hypothesis of PCOS as functional ovarian hyperandrogenism revisited", Endocr Rev, 37, pp.467~520 (2016)[DOI]
  19. Zhang CW, "Association between polymorphisms of the CYP11A1 gene and polycystic ovary syndrome in Chinese women", Mol Biol Rep, 39, pp.8379~8385 (2012)[DOI]
  20. Ramanathan B, "Pilot study on evaluation and determination of the prevalence of polycystic ovarian syndrome(PCOS)associated gene markers in the South Indian population", Indian J Endocrinol Metab, 25, pp.551~558 (2021)[DOI]
  21. Dasgupta S, "The role of epistasis in the etiology of Polycystic Ovary Syndrome among Indian women, SNP-SNP and SNP-environment interactions", Ann Hum Genet, 77, pp.288~298 (2013)[DOI]
  22. Sadrzadeh S, "Birth weight and age at menarche in patients with polycystic ovary syndrome or diminished ovarian reserve, in a retrospective cohort", Hum Reprod, 18, pp.2225~2230 (2003)[DOI]
  23. Okamura Y, "Polycystic ovary syndrome, early diagnosis and intervention are necessary for fertility preservation in young women with endometrial cancer under 35 years of age", Reprod Med Biol, 16, pp.67~71 (2016)[DOI]
  24. Bronstein J, "Age of onset of polycystic ovarian syndrome in girls may be earlier than previously thought", J Pediatr Adolesc Gynecol, 24, pp.15~20 (2011)[DOI]
  25. Joshi SR, "Metabolic syndrome—emerging clusters of the Indian phenotype", J Assoc Physicians India, 51, pp.445~446 (2003)
  26. Rehman R, "Influence of body mass index and polycystic ovarian syndrome on ICSI", IVF treatment outcomes; a study conducted in Pakistani women, 2018, pp.16, 529~534
  27. Thathapudi S, "Anthropometric and biochemical characteristics of polycystic ovarian syndrome in South Indian women using AES-2006 criteria", Int J Endocrinol Metab, 12, pp.e12470~ (2014)[DOI]
  28. Sun X, "Family-based association study of rs17300539 and rs12495941 polymorphism in adiponectin gene and polycystic ovary syndrome in a Chinese population", Med Sci Monit, 23, pp.78~84 (2017)[DOI]
  29. Kaur R, "Genetic association study from North India to analyze association of CYP19A1 and CYP17A1 with polycystic ovary syndrome", J Assist Reprod Genet, 35, pp.1123~1129 (2018)[DOI]
  30. Kaur R, "Association analysis of CYP11A1 variants with polycystic ovary syndrome, a case-control study from North India", Reprod Sci, 28, pp.2951~2960 (2021)[DOI]
  31. Kirchengast S, "Body composition characteristics and body fat distribution in lean women with polycystic ovary syndrome", Hum Reprod, 16, pp.1255~1260 (2001)[DOI]
  32. Dahlgren E, "Reprint of : women with polycystic ovary syndrome wedge resected in 1956 to 1965 : a long-term follow-up focusing on natural history and circulating hormones", Fertil Steril, 112, pp.e162~e170 (2019)[DOI]
  33. Kawamura S, "Predisposition for borderline personality disorder with comorbid major depression is associated with that for polycystic ovary syndrome in female Japanese population", Neuropsychiatr Dis Treat, 7, pp.655~662 (2011)[DOI]
  34. Zhao SP, "Association study between a polymorphism of aldosterone synthetase gene and the pathogenesis of polycystic ovary syndrome", Zhonghua Fu Chan Ke Za Zhi, 38, pp.94~97 (2003)
  35. Unsal T, "Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome", J Assist Reprod Genet, 26, pp.205~216 (2009)[DOI]
  36. Jain M, "Genetic polymorphism of CYP1A1(T6235C)gene as a risk factor for polycystic ovary syndrome", Gynecol Obstet(Sunnyvale), 5, pp.263~ (2015)[DOI]
  37. Babu KA, "CYP1A1, GSTM1 and GSTT1 genetic polymorphism is associated with susceptibility to polycystic ovaries in South Indian women", Reprod Biomed Online, 9(2), pp.194~200 (2004)[DOI]
  38. Bayoumy N, "CYP1A1 gene(6235T<C)polymorphism as a risk factor for polycystic ovarian syndrome among Egyptian women", Hum Fertil(Camb), 23, pp.142~147 (2020)[DOI]

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