A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome

Lee, Eung-Ji; Oh, Bermseok; Lee, Jong‐Young; Kimm, Kuchan; Lee, Sook‐Hwan; Baek, Kwang‐Hyun

doi:10.1016/j.fertnstert.2007.05.026

Cited by 45 publications

(31 citation statements)

References 38 publications

(42 reference statements)

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“…They utilized a two-step strategy, where they first genotyped all the selected SNPs in a discovery cohort of 275 cases and 171 controls, and then proceeded to genotype the SNPs with the strongest associations in a replication cohort of 526 cases and 3585 controls. At the discovery stage, 4 SNPs in INSR showed significant association with PCOS; however, only one of them, rs2252673, was found to be associated with PCOS in the replication cohort [29] supporting the findings of Lee [26].…”

Section: Insulin Receptor (Insr)supporting

confidence: 65%

“…However, replication of this association has been highly variable. Two studies found increased frequency of His1058 T allele in PCOS patients from China and India [23,24]; whereas few other studies did not see a significant association in Korean and Turkish PCOS patients [25][26][27], although it should be noted that all these studies lacked power due to small sample sizes. To overcome this limitation, Ioannidis in 2010 combined the data from these studies for a meta-analysis of the His1058 C/T polymorphism in a total of 795 cases and 576 controls, and estimated the combined odds ratio (OR) of 1.28 (95% confidence interval (CI) 0.88-1.85), which suggests that His1058 variation is likely not a major contributor to the etiology of PCOS [28].…”

Section: Insulin Receptor (Insr)mentioning

confidence: 99%

“…They found no significant associations, except with a novel SNP, rs2252673, for which, the minor T allele confers a modest protective effect to the carriers [26]. In contrast, Goodarzi et al [29] selected ''tag-SNPs'' in the INSR gene (along with 38 other genes in insulin signaling pathway), based on Caucasian subjects in Hap Map project which aims to capture >80% of all genetic variation in this population.…”

Section: Insulin Receptor (Insr)mentioning

confidence: 99%

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Past, Present and Future of Insulin Gene and Its Related Genes In Relation To Polycystic Ovary Syndrome

Kumar¹

2014

J Mol Genet Med

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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.

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Section: Insulin Receptor (Insr)supporting

confidence: 65%

Section: Insulin Receptor (Insr)mentioning

confidence: 99%

Section: Insulin Receptor (Insr)mentioning

confidence: 99%

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Past, Present and Future of Insulin Gene and Its Related Genes In Relation To Polycystic Ovary Syndrome

Kumar¹

2014

J Mol Genet Med

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“…A metaanalysis reported no association of His1058 C/T SNP with PCOS but warranted further studies to confirm this finding [36]. A novel polymorphism rs176477 C/T in exon 17 was identified to be associated with PCOS in Korean population [37]. Goodarzi et al, 2011, using tag-SNP approach, observed the association of four novel SNPs with PCOS in Caucasians; however, in a replicative cohort, association of only one SNP (rs2252673) was persistent [38].…”

Section: Insulin (Ins)mentioning

confidence: 98%

Genetic Markers of Polycystic Ovary Syndrome: Emphasis on Insulin Resistance

Shaikh

Dadachanji

Mukherjee

2014

International Journal of Medical Genetics

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Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of childbearing age causing not only reproductive but also metabolic anomalies. PCOS women present with ovulatory dysfunction, abnormal hormones, hyperandrogenemia, obesity, and hyperinsulinemia. It is a heterogeneous disorder which results from interaction of multiple genes along with environmental factors. Insulin resistance is a central key element contributing to PCOS pathogenesis and is further aggravated by obesity. Insulin regulates metabolic homeostasis and contributes to ovarian steroidogenesis. Candidate gene analyses have dissected genes related to insulin secretion and action for their association with PCOS susceptibility. Although a large number of genomic variants have been shown to be associated with PCOS, no single candidate gene has emerged as a convincing biomarker thus far. This may be attributed to large amount of heterogeneity observed in this disorder. This review presents an overview of the polymorphisms in genes related to insulin signaling and their association with PCOS and its related traits.

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“…The post-binding defect in the insulin receptor signaling pathway may be one of the reasons for insulin resistance in PCOS, while the high insulin level potentially has have a gonadotropin-augmenting effect on ovarian function (3,5,7). Obesity is also a significant common clinical feature in women affected by PCOS.…”

Section: Introductionmentioning

confidence: 99%

Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome

Kim

Yun

et al. 2011

Mol Med Report

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Abstract. Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, chronic oligoanovulation and insulin resistance. A number of women with PCOS are obese and exhibit abnormal phenotypes, including high levels of androgens, an irregular menstrual cycle and increased hair growth. Studies on obese PCOS patients have proven the crucial role that obesity plays in insulin resistance and hyperinsulinemia. The uncoupling protein (UCP) gene is one of the genes known to have a strong association with obesity and insulin resistance. Thus, we analyzed the association between the -866G/A polymorphism in the promoter of UCP2 and PCOS. Genotyping was performed by polymerase chain reaction along with restriction fragment length polymorphism analysis, followed by an analysis of the genotype of the UCP2 polymorphism in PCOS and control subjects using HapAnalyzer. The study included samples from 277 PCOS patients and 152 healthy controls. P<0.05 was considered to be statistically significant. In conclusion, no association was found between the -866G/A single nucleotide polymorphism and PCOS (P=0.7168, OR=1.07, 95% CI). The present study showed that -866G/A, a UCP2 gene polymorphism, is not associated with the pathogenesis of PCOS.

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A novel single nucleotide polymorphism of INSR gene for polycystic ovary syndrome

Cited by 45 publications

References 38 publications

Past, Present and Future of Insulin Gene and Its Related Genes In Relation To Polycystic Ovary Syndrome

Past, Present and Future of Insulin Gene and Its Related Genes In Relation To Polycystic Ovary Syndrome

Genetic Markers of Polycystic Ovary Syndrome: Emphasis on Insulin Resistance

Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome

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