Abstract

Polycystic ovary syndrome (PCOS) is considered to be a multifactorial disorder resulting from the interaction of several predisposing and protective genetic variants. PCOS is associated with low-grade chronic inflammation. Elevated levels of inflammatory markers including intercellular adhesion molecule-1 (ICAM-1) are demonstrated in women with PCOS. Recent evidence indicates a significant linkage between a locus on chromosome 19p13 and multifactorial diseases that have an inflammatory component. The aim of the study was to assess the possible association of Gly241Arg polymorphism of ICAM-1 gene located on chromosome 19p13 in determining risk of PCOS in Kashmiri women. Gly241Arg SNP in DNA from peripheral blood leukocytes of 220 PCOS cases and 220 age matched non-PCOS healthy controls was analysed using allel specific PCR. The genotype and allele frequency distributions of Gly241Arg SNP showed insignificant difference between the PCOS cases and control women, indicating no role of this SNP in PCOS susceptibility. The odds ratio for Arg/Arg genotype was 0.87 (95% CI=0.32-2.3) [P=0.79], for Gly/Arg genotype was 0.98 (95% CI= 0.66-1.47) [P=1] and for Arg/Arg+Gly/Arg genotype was 0.97 (95% CI=0.65-1.45) [P=0.92]. The genotypic frequencies of ICAM-1codon 241 showed statistically insignificant difference between cases and controls (χ2=0.07; p=0.96) Nor the studied polymorphism was found to affect clinical and laboratory parameters significantly. Although Gly241Arg polymorphism have not shown significant association with PCOS. Further, specifically designed studies on large cohorts are required to conclusively establish any role of ICAM-1 gene polymorphisms in PCOS in our study.

Highlights

  • The polycystic ovary syndrome (PCOS) is a common and complex endocrinopathy affecting 3-10% of women of reproductive age (Azziz et al, 2004; Nidhi et al, 2011) and is characterized by hyperandrogenism, chronic anovulation and polycystic ovarian morphology on ultrasonography (Rosenfield, 2015)

  • The aim of the study was to assess the possible association of Gly241Arg polymorphism of intercellular adhesion molecule-1 (ICAM-1) gene located on chromosome 19p13 in determining risk of Polycystic ovary syndrome (PCOS) in Kashmiri women

  • All PCOS cases and controls were genotyped for the ICAM-1 codon 241 SNP

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Summary

Introduction

The polycystic ovary syndrome (PCOS) is a common and complex endocrinopathy affecting 3-10% of women of reproductive age (Azziz et al, 2004; Nidhi et al, 2011) and is characterized by hyperandrogenism, chronic anovulation and polycystic ovarian morphology on ultrasonography (Rosenfield, 2015). It may be associated with increased risk of endometrial cancer (Shen et al, 2015). Results: The genotype and allele frequency distributions of Gly241Arg SNP showed insignificant difference between the PCOS cases and control women, indicating no role of this SNP in PCOS susceptibility. Designed studies on large cohorts are required to conclusively establish any role of ICAM-1 gene polymorphisms in PCOS in our study

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