Single nucleotide polymorphism in exon 17 of the insulin receptor gene is not associated with polycystic ovary syndrome in a Korean population

Lee, Eung-Ji; Yoo, Kyong-Jai; Kim, So-Jeong; Lee, Sook‐Hwan; Yul, Kwang; Baek, Kwang‐Hyun

doi:10.1016/j.fertnstert.2005.12.073

Cited by 40 publications

(44 citation statements)

References 26 publications

(18 reference statements)

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“…Among these polymorphisms, a C/T SNP at His1058 in exon 17 has been reported to be significantly associated with PCOS in two independent studies in Caucasian and Chinese women (25,26). A subsequent study from Korea however, failed to confirm this association (27). Also, the possible relationship between this polymorphism and PCOS associated traits has not been explored so far.…”

Section: Introductionmentioning

confidence: 92%

“…Other studies showed that the number and affinity of insulin receptor is not altered in PCOS but its tyrosine phosphorylation status and subsequent signaling is affected, suggesting the defect may lie in the b-chain (16,20). Studies to determine mutations in INSR failed to find any major variations; however, several polymorphisms were identified (21)(22)(23)(24)(25)(26)(27)(28). The most frequent of these were at exon 17, which encodes the partial tyrosine kinase domain containing the ATP binding site of INSR, important for its downstream signaling (21)(22)(23)(24)(25)(26)(27)(28).…”

Section: Introductionmentioning

confidence: 99%

“…Studies to determine mutations in INSR failed to find any major variations; however, several polymorphisms were identified (21)(22)(23)(24)(25)(26)(27)(28). The most frequent of these were at exon 17, which encodes the partial tyrosine kinase domain containing the ATP binding site of INSR, important for its downstream signaling (21)(22)(23)(24)(25)(26)(27)(28). Among these polymorphisms, a C/T SNP at His1058 in exon 17 has been reported to be significantly associated with PCOS in two independent studies in Caucasian and Chinese women (25,26).…”

Section: Introductionmentioning

confidence: 99%

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Genetic variation in exon 17 of INSR is associated with insulin resistance and hyperandrogenemia among lean Indian women with polycystic ovary syndrome

Mukherjee

Shaikh

Khavale

et al. 2009

European Journal of Endocrinology

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Objective: Polycystic ovary syndrome (PCOS) is a multigenic disorder, and insulin resistance is one of its hallmark features. Polymorphisms in exon 17 of insulin receptor (INSR) gene are reported to be associated with PCOS. We investigated this association in Indian women and its putative relationship with PCOS associated traits, which has not been explored so far. Methods: In this case control study, the polymorphisms were investigated by direct sequencing in 180 women with PCOS and 144 age matched controls. Clinical, anthropometric, biochemical, and hormonal parameters were also estimated. Results: The silent C/T polymorphism at His1058 in exon 17 of INSR was found to be present in our study population. The polymorphic genotype (CTCTT) was significantly associated with PCOS in lean women (c 2 Z8.493, dfZ1, PZ0.004). It showed association with higher fasting insulin levels (PZ0.02), homeostasis model assessment of insulin resistance (PZ0.005), free androgen index (PZ0.03), and lower quantitative insulin sensitivity check index (PZ0.004) in lean PCOS women. No other novel or known polymorphism was identified in exon 17 in this cohort. Conclusions: The study shows significant association of C/T polymorphism at His1058 of INSR with PCOS in the lean rather than obese Indian women. Its association with indices of insulin resistance and hyperandrogenemia is also seen in the same group. The findings strengthen the concept that pathogenesis of PCOS is different in lean and obese women.

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Section: Introductionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Genetic variation in exon 17 of INSR is associated with insulin resistance and hyperandrogenemia among lean Indian women with polycystic ovary syndrome

Mukherjee

Shaikh

Khavale

et al. 2009

European Journal of Endocrinology

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“…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%

“…Lee [25] sequenced the exons of INSR in 24 healthy Korean women to survey all coding variation present in the general population; 9 SNPs identified from the resequencing study were then genotyped in 134 Korean women with PCOS and 100 body mass index (BMI) matched controls. 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].…”

Section: Insulin Receptor (Insr)mentioning

confidence: 99%

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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Genetic polymorphisms associated with polycystic ovary syndrome among Iranian women

Jamshidi

Pour

Bahadoram

et al. 2020

Intl J Gynecology & Obste

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Polycystic ovary syndrome (PCOS) involves abnormalities in ovarian, reproductive, and metabolic systems. Genetic polymorphisms associated with individual differences and variations might be related to complex disorders with unknown causes, including PCOS. Several leading genetic markers with known cellular functions have been identified among Iranian women presenting with PCOS. In particular, the existing evidence shows a significant relationship between PCOS and the following genetic polymorphisms: rs2275913 (interleukin‐17A), rs9927163 (interleukin‐32), Pro12Ala (peroxisome proliferator‐activated receptor‐γ), rs17173608 (chemerin), rs2236242 (vaspin), ApaI (vitamin D receptor), and rs7895833 (sirtuin 1). In addition, a higher risk of PCOS is associated with the rs2910164 (microRNA 146a), rs2241766 (adiponectin), –34 T/C (cytochrome 17), and rs1800682 (Fas) polymorphisms. Furthermore, protective effects against PCOS have been reported for the A4223C polymorphism of adenosine deaminase 1. Overall, the available data indicate that Iranian women with PCOS have a higher prevalence of polymorphisms in inflammation‐ and metabolism‐related genes, but not in insulin‐related genes. More extensive studies are needed to identify the ethnicity‐related genetic associations in PCOS.

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Single nucleotide polymorphism in exon 17 of the insulin receptor gene is not associated with polycystic ovary syndrome in a Korean population

Cited by 40 publications

References 26 publications

Genetic variation in exon 17 of INSR is associated with insulin resistance and hyperandrogenemia among lean Indian women with polycystic ovary syndrome

Genetic variation in exon 17 of INSR is associated with insulin resistance and hyperandrogenemia among lean Indian women with polycystic ovary syndrome

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

Genetic polymorphisms associated with polycystic ovary syndrome among Iranian women

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