Abstract

Background Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder affecting premenopausal women. Besides primary features like anovulation, hyperandrogenism, and polycystic ovaries, women with PCOS present with multiple metabolic, cardiovascular, and psychological disorders. The etiology is multifactorial and the different genetic variants are suggested to play an important role in pathogenesis. Insulin resistance is a ubiquitous finding in PCOS and SNPs in genes involved in the insulin signaling pathway are possible candidates that can explain the development of clinical manifestations of PCOS. Aim We aimed to investigate the association of INSR His1058 C/T (rs1799817) single nucleotide polymorphism with PCOS in Kashmiri women. The genotypic-phenotypic correlation of the tested SNP with hyperandrogenism, ovulatory dysfunction, and metabolic markers was evaluated. Results The allele frequency (OR = 1.00, 95% CI = 0.67–1.48, χ2 = 0.01, P=0.99) and genotype distribution (χ2 = 3.73, P=0.15) in INSR C/T polymorphism were comparable with controls. No significant association was found with PCOS in dominant (P=0.194), recessive (P=0.442), and homo vs. het. (P=0.5) genotype models. Genotype-phenotype correlation analysis revealed that variant TT genotype had significantly higher HOMA (P=0.029) and reduced insulin sensitivity QUICKI (P=0.037) values. There was no significant variation in the prevalence of hirsutism, acne, alopecia, menstrual disturbances, acanthosis nigricans, and obesity (all P > 0.05) in different INSR C/T genotypes. Conclusion The INSR C/T SNP (rs1799817) does not increase the risk of PCOS in Kashmiri women. This SNP is unlikely to play a significant role in the development and manifestation of clinical symptoms of polycystic ovary syndrome.

Highlights

  • Polycystic ovary syndrome (PCOS), a multidimensional disorder, affects reproductive, endocrine, metabolic, cardiovascular, and psychological health of affected women [1]

  • A C/T single nucleotide polymorphism at ATP binding site in tyrosine kinase domain has been investigated in many disorders [13]. is SNP has been investigated for association with type 2 diabetes, hypertension, colorectal cancer, nonalcoholic fatty liver disease, and PCOS [14,15,16,17]

  • We aimed to investigate the association of Insulin receptor gene (INSR) C/T SNP with PCOS in North Indian Kashmiri women

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Summary

Introduction

PCOS, a multidimensional disorder, affects reproductive, endocrine, metabolic, cardiovascular, and psychological health of affected women [1]. It is manifested as a spectrum of symptoms including oligomenorrhea, hirsutism, infertility, acne, and obesity [2]. E genetic variants in exons 17–21, codes for tyrosine kinase domain, have been investigated to understand downstream signaling alterations postinsulin binding [11, 12]. A C/T single nucleotide polymorphism (rs1799817) at ATP binding site in tyrosine kinase domain has been investigated in many disorders [13]. Aim. We aimed to investigate the association of INSR His1058 C/T (rs1799817) single nucleotide polymorphism with PCOS in Kashmiri women. Conclusion. e INSR C/T SNP (rs1799817) does not increase the risk of PCOS in Kashmiri women. is SNP is unlikely to play a significant role in the development and manifestation of clinical symptoms of polycystic ovary syndrome

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