Single Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study

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 deve...

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Autores principales: Satwika Sinha, Kaushik Kar, Partha Pratim Chowdhury, Anindya Dasgupta
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Publicado: JCDR Research and Publications Private Limited 2021
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spelling oai:doaj.org-article:790aa4f84ad843bd8771ebf7458fb7472021-11-10T05:05:57ZSingle Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study10.7860/JCDR/2021/49653.153952249-782X0973-709Xhttps://doaj.org/article/790aa4f84ad843bd8771ebf7458fb7472021-09-01T00:00:00Zhttps://www.jcdr.net/articles/PDF/15395/49653_CE[Ra1]_F(SHU)_PF1(AKA_SHU)_PFA(AKA_KM)_PN(KM).pdfhttps://doaj.org/toc/2249-782Xhttps://doaj.org/toc/0973-709XIntroduction: 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.Satwika SinhaKaushik Kar Partha Pratim ChowdhuryAnindya DasguptaJCDR Research and Publications Private Limitedarticleendocrinopathiesgenetic factorspolymerase chain reactionrestriction fragment length polymorphismtestosteroneMedicineRENJournal of Clinical and Diagnostic Research, Vol 15, Iss 9, Pp GC07-GC10 (2021)
institution DOAJ
collection DOAJ
language EN
topic endocrinopathies
genetic factors
polymerase chain reaction
restriction fragment length polymorphism
testosterone
Medicine
R
spellingShingle endocrinopathies
genetic factors
polymerase chain reaction
restriction fragment length polymorphism
testosterone
Medicine
R
Satwika Sinha
Kaushik Kar
Partha Pratim Chowdhury
Anindya Dasgupta
Single Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study
description 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.
format article
author Satwika Sinha
Kaushik Kar
Partha Pratim Chowdhury
Anindya Dasgupta
author_facet Satwika Sinha
Kaushik Kar
Partha Pratim Chowdhury
Anindya Dasgupta
author_sort Satwika Sinha
title Single Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study
title_short Single Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study
title_full Single Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study
title_fullStr Single Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study
title_full_unstemmed Single Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study
title_sort single nucleotide polymorphism of insulin receptor gene rs2059806 in polycystic ovary syndrome- a case-control study
publisher JCDR Research and Publications Private Limited
publishDate 2021
url https://doaj.org/article/790aa4f84ad843bd8771ebf7458fb747
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