INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE The association of INSR (INSulin Receptor gene) variants (rs2059807 and rs1799817) with PCOS was established through genome-wide association studies, yet requires validation for the Indian population. 31837364 2020
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 AlteredExpression disease BEFREE Luteinized granulosa cells from 30 controls and 39 PCOS were classified for IR based on a novel method of down regulation of protein expression of insulin receptor-β (INSR- β) as shown in our previous paper. 29339197 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE This study showed the direct role of adiponectin in ameliorating hyperandrogenism and reducing IR in the ovary of PCOS-mice. 28522293 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Single-Nucleotide Polymorphism on Exon 17 of Insulin Receptor Gene Influences Insulin Resistance in PCOS: A Pilot Study on North Indian Women. 26721804 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE Reduction of APPL1, insulin receptor and adiponectin system genes in GCs could be involved in the development of PCOS. 27075719 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE However, we detected no significant association between INSR His 1058 C/T polymorphism and PCOS. 27098445 2016
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Alternatively, obese women with PCOS possess alterations in insulin receptor expression, with underexpression in metabolic tissues and overexpression in the ovary, resulting in peripheral insulin resistance and excess ovarian androgen production. 26305227 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Ninety-eight SNPs distributed in 23 exons and the flanking regions of INSR were investigated, among which 17 SNPs were found to be associated with PCOS. 25622255 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Variants in DENND1A (P = .0002), THADA (P = .035), FSHR (P = .007), and INSR (P = .046) were associated with PCOS in Europeans. 25303487 2015
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE The present data may provide a basis for further studies of the role of the INSR in the aetiology of PCOS. 24947064 2014
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population. 25310961 2014
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 AlteredExpression disease BEFREE In a previous microarray analysis, GRB2-associated binding protein 1 (GAB1), a docking protein closely related to the insulin receptor substrate, was down-regulated in endometrium of women with polycystic ovary syndrome (PCOS). 25144631 2014
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE In this study, we explored whether polymorphisms in insulin receptor (INSR), adiponectin (ADIPOQ), parathyroid hormone (PTH), and vitamin D receptor (VDR) genes are associated with polycystic ovary syndrome (PCOS). 21637951 2012
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease GWASCAT Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease GWASDB Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE The association between the single nucleotide polymorphisms (SNPs) of insulin receptor substrate (IRS) gene and PCOS in several populations has been studied, but the results are conflicting. 22523112 2012
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE No significant evidence of association or linkage was found in the four tested markers, indicating that our family samples did not support susceptibility of the INSR gene to PCOS. 21645371 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 Biomarker disease BEFREE The purpose of this study was to evaluate the associations between polymorphisms in vitamin D receptor (VDR), parathyroid hormone (PTH), calcium sensing receptor (CASR), insulin receptor (INSR), and adiponectin (ADIPOQ) genes and biochemical characteristics of women with polycystic ovary syndrome (PCOS). 21082232 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE This study was to evaluate whether insulin receptor substrate (IRS)-2 Gly1057Asp polymorphism influences chronic inflammatory parameters in Taiwanese patients with PCOS. 21801267 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE One INSR SNP (rs2252673) replicated association with PCOS. 21300347 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Association of insulin receptor genetic variants with polycystic ovary syndrome in a population of women from Central Europe. 20493471 2010
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE In this work we investigated the association of insulin receptor (IotaNSR) and insulin receptor substrates (IRSs) polymorphisms with the risk of developing PCOS. 19926323 2010
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE Polymorphisms in exon 17 of insulin receptor (INSR) gene are reported to be associated with PCOS. 19211708 2009
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease BEFREE DNA samples from forty-four adolescent girls with PCOS and 50 healthy controls were analyzed by PCR-RFLP and direct DNA sequencing to determine the genotypic frequency of 17 different polymorphic loci on the FSHR (A307T, N680S), CYP17 (-34 T/C), CYP1A1 (T6235C), CAPN10 (44, 43, 19, 63), INSR (exon 17 C/T), SERPINE1 (4G/5G) genes. 19387820 2009
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.200 GeneticVariation disease LHGDN Among the analyzed SNPs, +176477 C>T, a novel SNP in the INSR gene, was associated with the pathogenesis of PCOS in a Korean population. 17658524 2008