Abstract
Polycystic ovary syndrome is the most common endocrinal disorder and is associated with infertility. Insulin resistance is a key component in the pathogenesis of PCOS and the predisposition to Type 2 diabetes mellitus. The existing literature supports a strong basis of PCOS clusters in families. However, due to the genetic and phenotypic heterogeneity of PCOS and the lack of large cohort studies and identification of specific contributing genes to date have yielded only few conclusive results. Although several loci have been proposed as PCOS genes including CYP11A, the insulin gene, and a region near the insulin receptor, the strongest case can be made for the region near the insulin receptor gene. Insulin receptor substrates proteins (IRS) are critical for insulin mediated signal transduction in insulin target tissues. Several studies have shown that IRS-1 Gly972Arg polymorphism might be the factor causing susceptibility to Type 2 diabetes mellitus (T2DM) and are associated with phenotypic features of PCOS. In this article we reviewed the current status of the genetic analysis of insulin (INS), insulin receptor (INSR), insulin receptor substrate (IRS) in relation to polycystic ovary syndrome, an infertility disorder in females.
Highlights
Infertility is defined as the inability to conceive after one year of regular unprotected intercourse and accounts for one in six newly married couples
This article is mainly focused on genetics of insulin, insulin receptor and Insulin receptor substrates proteins (IRS) gene polymorphisms and their association with POCS
Lee [25] sequenced the exons of insulin receptor (INSR) in 24 healthy Korean women to survey all coding variation present in the general population; 9 SNPs identified from the resequencing study were genotyped in 134 Korean women with Polycystic ovary syndrome (PCOS) and 100 body mass index (BMI) matched controls
Summary
Infertility is defined as the inability to conceive after one year of regular unprotected intercourse and accounts for one in six newly married couples. This article is mainly focused on genetics of insulin, insulin receptor and IRS gene polymorphisms and their association with POCS. Insulin (INS) gene polymorphism in PCOS The pancreatic β-cell dysfunction in PCOS women appears to have a genetic predisposition.
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