Insulin gene VNTR class III allele is a risk factor for insulin resistance in Kashmiri women with polycystic ovary syndrome

Rasool, Shabhat; Ashraf, Sairish; Nabi, Mudasar; Rashid, Fouzia; Masoodi, Shariq Rashid; Fazili, Khalid Majid; Amin, Shajrul

doi:10.1016/j.mgene.2019.100597

Cited by 12 publications

(11 citation statements)

References 57 publications

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“…PCOS is a multisystemic disorder associated with varied immediate complications like hirsutism, acne, alopecia, menstrual irregularities and a range of long term metabolic, cardiovascular, and psychological complications 13,14 . Previous studies have shown that PCOS women are predisposed to obesity [15][16][17][18] . Our study showed similar results, BMI (P < .001), WHR (P < .001) were signi cantly higher in women with PCOS than in healthy women.…”

Section: Discussionmentioning

confidence: 99%

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Androgen receptor coregulator long noncoding RNA CTBP1-AS is associated with polycystic ovary syndrome in Kashmiri women

et al. 2021

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Objective: Polycystic ovary syndrome (PCOS) is one of the most common reproductive, endocrine and metabolic disorders in premenopausal women. Even though the pathophysiology of PCOS is complex and obscure, the disorder is prominently considered as the syndrome of hyperandrogenism. C-Terminal binding protein 1 antisense (CTBP1-AS) acts as a novel Androgen Receptor regulating long noncoding RNA (lncRNA). Therefore, the present study was aimed to establish the possible association of androgen receptor regulating long noncoding RNA CTBP1-AS with PCOS.Methods: A total of 178 subjects including 105 PCOS cases and 73 age-matched healthy controls were recruited for the study. The anthropometric, hormonal and biochemical parameters of all subjects were analysed. Total RNA was isolated from peripheral venous blood and expression analysis was done by quantitative real time PCR (qRT-PCR). The correlation analysis was performed to evaluate the association between and various clinical parameters and lncRNA CTBP1-AS expression.Results and conclusion: the mean expression level of CTBP1-AS was found to be signi cantly higher in the PCOS women than in the healthy controls (-lnCTBP1-AS, 4.23 ± 1.68 versus 1.24 ± 0.29 p<0.001).Further, subjects with higher expression level of CTBP1-AS had signi cantly higher risk of PCOS compared to subjects with low levels of CTBP1-AS expression (actual OR = 11.36, 95% C.I. = 5.59-23.08, P = < 0.001). The area under ROC curve (AUC) was 0.987 (SE 0.006 and 95% C.I. 0.976-0.99). However, lncRNA CTBP1-AS was found to have no association with different clinical characteristics in PCOS. In conclusion, androgen receptor coregulating lncRNA CTBP1-AS is associated with PCOS women and high expression of CTBP1-AS is a risk factor for PCOS in Kashmiri women

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Section: Discussionmentioning

confidence: 99%

“…Our study showed similar results, BMI (P < .001), WHR (P < .001) were signi cantly higher in women with PCOS than in healthy women. Studies have shown PCOS women have abnormal metabolic, hormonal parameters [15][16][17][18][19][20] . Consistently, in our study various metabolic parameters were found deranged in PCOS women.…”

Section: Discussionmentioning

confidence: 99%

Androgen receptor coregulator long noncoding RNA CTBP1-AS is associated with polycystic ovary syndrome in Kashmiri women

et al. 2021

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“…The eligibility criteria for the control group included age-matched healthy volunteers with regular menstrual cycles, no clinical or biochemical hyperandrogenism, and no acne on physical examination. They also had no history of endocrine or autoimmune disorders and have not undergone surgery to the pelvic region [ 5 ]. All subjects were ethnic Kashmiris/North Indians living in Kashmir province of India.…”

Section: Methodsmentioning

confidence: 99%

“…The biochemical parameters like fasting serum lipid profile (cholesterol (CHOL) and triglycerides (TG), urea, uric acid, creatinine, alanine aminotransferase (ALT), and aspartate aminotransferase (AST) were determined by enzymatic methods using Erba bioassay diagnostic kits and analyzed on Erba Chem7 biochemistry analyzer (ERBA Diagnostics, Manheim, Germany) [ 5 ].…”

Section: Methodsmentioning

confidence: 99%

“…The etiology is considered polygenic and multifactorial, and family-based studies suggest a strong genetic component [ 3 , 4 ]. The genetic variants have been extensively investigated to understand their contribution in predisposing women to PCOS [ 5 , 6 ]. The insulin resistance and hyperinsulinemia, commonly found in 40–80% PCOS women, are suggested to play important role in metabolic and reproductive disturbances in women with PCOS [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

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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

Rasool

Ashraf

Nabi

et al. 2021

International Journal of Endocrinology

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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.

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Genomic association of SNPs rs4077582 of CYP11A1 and rs700519 of CYP19A1 genes with polycystic ovarian syndrome

Wazir,

Wajid,

Wahid

et al. 2024

Endocrine

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Insulin gene VNTR class III allele is a risk factor for insulin resistance in Kashmiri women with polycystic ovary syndrome

Cited by 12 publications

References 57 publications

Androgen receptor coregulator long noncoding RNA CTBP1-AS is associated with polycystic ovary syndrome in Kashmiri women

Androgen receptor coregulator long noncoding RNA CTBP1-AS is associated with polycystic ovary syndrome in Kashmiri women

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

Genomic association of SNPs rs4077582 of CYP11A1 and rs700519 of CYP19A1 genes with polycystic ovarian syndrome

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