scholarly journals Clinical Manifestations of Hyperandrogenism and Ovulatory Dysfunction Are Not Associated with His1058 C/T SNP (rs1799817) Polymorphism of Insulin Receptor Gene Tyrosine Kinase Domain in Kashmiri Women with PCOS

2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Shayaq Ul Abeer Rasool ◽  
Sairish Ashraf ◽  
Mudasar Nabi ◽  
Shariq R. Masoodi ◽  
Khalid M. Fazili ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Clinical Manifestations ◽  
Phenotypic Correlation ◽  
Tyrosine Kinase Domain ◽  
Genotype Distribution ◽  
Ovary Syndrome ◽  
Insulin Receptor Gene ◽  
Ovulatory Dysfunction

Background. Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder affecting premenopausal women. Besides primary features like anovulation, hyperandrogenism, and polycystic ovaries, women with PCOS present with multiple metabolic, cardiovascular, and psychological disorders. The etiology is multifactorial and the different genetic variants are suggested to play an important role in pathogenesis. Insulin resistance is a ubiquitous finding in PCOS and SNPs in genes involved in the insulin signaling pathway are possible candidates that can explain the development of clinical manifestations of PCOS. Aim. We aimed to investigate the association of INSR His1058 C/T (rs1799817) single nucleotide polymorphism with PCOS in Kashmiri women. The genotypic-phenotypic correlation of the tested SNP with hyperandrogenism, ovulatory dysfunction, and metabolic markers was evaluated. Results. The allele frequency (OR = 1.00, 95% CI = 0.67–1.48, χ2 = 0.01, P = 0.99 ) and genotype distribution (χ2 = 3.73, P = 0.15 ) in INSR C/T polymorphism were comparable with controls. No significant association was found with PCOS in dominant ( P = 0.194 ), recessive ( P = 0.442 ), and homo vs. het. ( P = 0.5 ) genotype models. Genotype-phenotype correlation analysis revealed that variant TT genotype had significantly higher HOMA ( P = 0.029 ) and reduced insulin sensitivity QUICKI ( P = 0.037 ) values. There was no significant variation in the prevalence of hirsutism, acne, alopecia, menstrual disturbances, acanthosis nigricans, and obesity (all P > 0.05 ) in different INSR C/T genotypes. Conclusion. The INSR C/T SNP (rs1799817) does not increase the risk of PCOS in Kashmiri women. This SNP is unlikely to play a significant role in the development and manifestation of clinical symptoms of polycystic ovary syndrome.

Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome

2003 ◽  
Vol 79 (1) ◽  
pp. 219-220 ◽  
Author(s):  
Gemma Villuendas ◽  
H.éctor F Escobar-Morreale ◽  
Flavia Tosi ◽  
José Sancho ◽  
Paolo Moghetti ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Insulin Receptor ◽  
Gene Locus ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Ovary Syndrome ◽  
Insulin Receptor Gene

scholarly journals Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome

2011 ◽  
Vol 95 (5) ◽  
pp. 1736-1741.e11 ◽  
Author(s):  
Mark O. Goodarzi ◽  
Yvonne V. Louwers ◽  
Kent D. Taylor ◽  
Michelle R. Jones ◽  
Jinrui Cui ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Gene Polymorphism ◽  
Insulin Receptor ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Ovary Syndrome ◽  
Insulin Receptor Gene ◽  
Receptor Gene Polymorphism

scholarly journals Evidence for Association of Polycystic Ovary Syndrome in Caucasian Women with a Marker at the Insulin Receptor Gene Locus

2001 ◽  
Vol 86 (1) ◽  
pp. 446-449 ◽  
Author(s):  
Stefania Tucci ◽  
Walter Futterweit ◽  
Erlinda S. Concepcion ◽  
David A. Greenberg ◽  
Ronald Villanueva ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Insulin Receptor ◽  
Gene Locus ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Ovary Syndrome ◽  
Insulin Receptor Gene ◽  
Caucasian Women

scholarly journals Single Nucleotide Polymorphism of Insulin Receptor Gene rs2059806 in Polycystic Ovary Syndrome- A Case-control Study

2021 ◽  
Author(s):  
Satwika Sinha ◽  
Kaushik Kar ◽  
Partha Pratim Chowdhury ◽  
Anindya Dasgupta
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Insulin Receptor ◽  
Odds Ratio ◽  
Polycystic Ovary ◽  
Receptor Gene ◽  
Case Control ◽  
Ovary Syndrome ◽  
Insulin Receptor Gene ◽  
Control Female ◽  
Female Subjects

Introduction: One of the most common endocrinopathies faced in clinical practice is Polycystic Ovary Syndrome (PCOS). Furthermore, it is one of the major causative factors of anovulatory infertility affecting a large number of female population worldwide. They are also at a greater risk for developing impaired glucose tolerance, type 2 diabetes mellitus and cardiovascular disease. Decreased sensitivity to insulin is a common feature observed in women with this syndrome. Aim: To assess whether polymorphism of insulin receptor gene has a significant role to develop the PCOS. Materials and Methods: This was a case-control, observational, hospital-based study, conducted at Department of Biochemistry, Calcutta National Medical College, Kolkata from January 2018 to September 2018. Total 123 patients with PCOS cases and 111 normo-ovulatory normal control female subjects were selected. Blood samples were collected for estimation of serum testosterone and Deoxyribonucleic Acid (DNA) extraction. Polymerase Chain Reaction (PCR) followed by Restriction Fragment Length Polymorphism (RFLP) pattern of PCR fragments of DNA samples were determined. The study analysed and compared the genotyping and allele frequencies of rs2059806 polymorphism in control and case group. For comparison, chi-square test was performed (Odds ratio, p<0.05). Results: Amongst the 123 PCOS cases and 111 normal female subjects of the study, mean age of PCOS patients were 22.59±4.7 years and that of control subjects was 21.9±5.1 years. The present study observed an increase in mutant G allele in PCOS subjects (Odds ratio-2.18, p=0.0035). Conclusion: The polymorphism of insulin receptor gene rs2059806 may have a probable role in the development of PCOS.

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