Korean Journal of Clinical Laboratory Science (대한임상검사과학회지)

Korean Society for Clinical Laboratory Science (대한임상검사과학회)
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Genetic Variants of CYP11B2 and CYP1A1 Among the North-Indian Punjabi Females with Polycystic Ovary Syndrome

  • Ratneev, Kaur (Department of Human Genetics, Guru Nanak Dev University) ;
  • Mandeep, Kaur (Department of Human Genetics, Guru Nanak Dev University) ;
  • Sukhjashanpreet, Singh (Department of Human Genetics, Guru Nanak Dev University) ;
  • Tajinder, Kaur (Department of Gynaecology and Obstetrics, Hartej Hospital) ;
  • Anupam, Kaur (Department of Human Genetics, Guru Nanak Dev University)
  • Received : 2022.06.01
  • Accepted : 2022.12.22
  • Published : 2022.12.31
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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.

Keywords

Acknowledgement

We are thankful to all the subjects who were part of the study. This paper was supported by the Korean Association of Medical Technologists in 2022 and Proceeded by support project for thesis submission by member practitioners. Proofreading performed by Park CE. The study was supported by UGC-UPE (non-NET) fellowship and RUSA.

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