Single Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study
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CE 184, Salt Lake City,Sector 1, Kolkata-700064, West Bengal, India.
Introduction: One of the most common endocrinopathies faced in clinical practice is Polycystic Ovary Syndrome (PCOS). Furthermore, it is one of the major causative factors of anovulatory infertility affecting a large number of female population worldwide. They are also at a greater risk for developing impaired glucose tolerance, type 2 diabetes mellitus and cardiovascular disease. Decreased sensitivity to insulin is a common feature observed in women with this syndrome.
Aim: To assess whether polymorphism of insulin receptor gene has a significant role to develop the PCOS.
Materials and Methods: This was a case-control, observational, hospital-based study, conducted at Department of Biochemistry, Calcutta National Medical College, Kolkata from January 2018 to September 2018. Total 123 patients with PCOS cases and 111 normo-ovulatory normal control female subjects were selected. Blood samples were collected for estimation of serum testosterone and Deoxyribonucleic Acid (DNA) extraction. Polymerase Chain Reaction (PCR) followed by Restriction Fragment Length Polymorphism (RFLP) pattern of PCR fragments of DNA samples were determined. The study analysed and compared the genotyping and allele frequencies of rs2059806 polymorphism in control and case group. For comparison, chi-square test was performed (Odds ratio, p<0.05).
Results: Amongst the 123 PCOS cases and 111 normal female subjects of the study, mean age of PCOS patients were 22.59±4.7 years and that of control subjects was 21.9±5.1 years. The present study observed an increase in mutant G allele in PCOS subjects (Odds ratio-2.18, p=0.0035).
Conclusion: The polymorphism of insulin receptor gene rs2059806 may have a probable role in the development of PCOS.
Endocrinopathies, Genetic factors, Polymerase chain reaction, Restriction fragment length polymorphism, Testosterone
Date of Submission: Mar 28, 2021
Date of Peer Review: May 12, 2021
Date of Acceptance: Aug 04, 2021
Date of Publishing: Sep 01, 2021
• Financial or Other Competing Interests: None
• Was Ethics Committee Approval obtained for this study? Yes
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. NA
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ETYMOLOGY: Author Origin
- Emerging Sources Citation Index (Web of Science, thomsonreuters)
- Index Copernicus ICV 2017: 134.54
- Academic Search Complete Database
- Directory of Open Access Journals (DOAJ)
- Google Scholar
- HINARI Access to Research in Health Programme
- Indian Science Abstracts (ISA)
- Journal seek Database
- Popline (reproductive health literature)