Genetic association study from North India to analyze association of CYP19A1 and CYP17A1 with polycystic ovary syndrome

Genetics
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Abstract

Purpose

Polycystic ovary syndrome (PCOS) is a complex multifactorial endocrine disorder affecting approximately 5–10% of women of reproductive age. Affected women have menstrual disturbances due to anovulation, infertility, and hyperandrogenism. Ovarian androgen overproduction is the key physiopathologic feature of PCOS. A number of genes encoding major enzymes of the androgen metabolic pathways, such as HSD17B6, CYP19A1, CYP11A1, CYP17A1, and INSR, have been examined. Very few studies have been done in North India. There is an increasing prevalence of PCOS in women in Punjab and it is the leading cause of female infertility. In view of the strong evidence implicating the importance of CYP19A1 and CYP17A1 in androgen metabolic pathways, we investigated the association of rs700519, rs2414096, and rs743572 (− 34T>C) polymorphisms on susceptibility of developing PCOS, in North India.

Methods

A total of 500 subjects (women of reproductive age) including 250 PCOS cases and 250 healthy age-matched controls were included in the present study. DNA was extracted from venous blood for all samples, and association analysis for rs2414096, rs700519, and rs743572 was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Lipid profile was done using a biochemical analyzer and body mass index (BMI) was measured for all cases. Statistical analysis was performed.

Results

Significant association of − 34T>C polymorphism of CYP17A1 was found with PCOS (p = 0.0005). BMI was statistically different between PCOS cases and controls (p = 0.000). Triglycerides were high in PCOS women. Variations of CYP19A1 were not statistically significant with PCOS.

Conclusions

These data suggest that − 34T>C polymorphism in CYP17A1 is associated with PCOS in North India. No polymorphism of CYP19A1 was found to be associated.

Keywords

CYP17A1 CYP19A1 BMI Polycystic ovary syndrome Polymorphism Lipid profile 

Notes

Acknowledgements

We would like to thank patients from Hartej Hospital, Amritsar, for providing us blood samples for our study.

Compliance with ethical standards

This study was approved by the ethics review board of Guru Nanak Dev University, consistent with provisions of the Declaration of Helsinki. Voluntary written informed consent was obtained.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Human GeneticsGuru Nanak Dev UniversityAmritsarIndia
  2. 2.Hartej HospitalAmritsarIndia

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