Association of GWAS identified INSR variants (rs2059807 &amp; rs1799817) with polycystic ovarian syndrome in Indian women

Dakshinamoorthy, Janani; Jain, Pritesh; Ramamoorthy, Thilagavathi; Ayyappan, Rajapriya; Balasundaram, Usha

doi:10.1016/j.ijbiomac.2019.10.235

Cited by 19 publications

(5 citation statements)

References 43 publications

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“…There are studies explaining the variations of rs2059807 and rs1799817 in insulin resistance in PCOS in European, Chinese and Indian women. [27,28]. Similarly, a meta-analysis study found that rs1799817 and rs2059806 may not be important in PCOS, but rs2059807 may be a candidate SNP for PCOS [29].…”

Section: Discussionmentioning

confidence: 99%

PKOS’lu Hastalarda INSR geni Ekzom Dizileme Sonuçları

ARIKAN,

ONAT

2023

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi

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Objective: Polycystic ovary syndrome (PCOS) is an endocrinopathy that includes findings such as insulin resistance, infertility and hyperandrogenism. Its genetic background continues to be investigated with variations and mutations in various genes. Material and Methods: In current study, we evaluated the clinical and laboratory findings of 16 prospective PCOS patients according to AE-PCOS criteria and analyzed the INSR gene by exome sequencing method. Results: We revealed 4 novel variations, 3 of which we named ourselves. These are NM_000208.4:c.974+82_974+83insT, NM_000208.4:c.974+107_974+108insC, NM_000208.4:c.653-79A>G and rs1449625253 and are all intronic variations. In this study, using the 27 informative SNPs that we found in the INSR gene, we detected two different triple tag SNP blocks showing high linkage disequilibrium score (r2 = 1) for the first time. These blocks are rs2963-rs2245649-rs2245655 and rs6413502-rs41509747-rs73498780. We also revealed the MAF values of variations such as rs7508516, which is the most common, and rs2059807, which we observed in our patients and may be responsible for PCOS. Conclusion: The study is the first study in Turkiye in which the INSR genes of PCOS patients were investigated by exome sequencing method. The study, in which the tag SNPs of the INSR gene were revealed for the first time and we found new candidate variations, provides important data to the literature.

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Section: Discussionmentioning

confidence: 99%

PKOS’lu Hastalarda INSR geni Ekzom Dizileme Sonuçları

ARIKAN,

ONAT

2023

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi

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“…PCOS is associated with specific gene mutations, and most gene variants identified in genome-wide association studies are involved in regulating sheath steroid production, follicular maturation, or insulin signalling through the modified proteins they encode, such as insulin receptors, LH/HCG receptor activators, cell traffic proteins, and transcription factors [ 31 , 32 ]. Genome-wide association studies on European, Chinese, and Indian populations have established that some insulin receptor (INSR) gene variants (rs2059807 and rs1799817) are significantly associated with IR in women with PCOS [ 33 , 34 ]. Studies of Indian women suggest that C/T polymorphisms in the INSR tyrosine kinase domain may be susceptible variants in women with normal-weight PCOS, contributing to the development of IR and compensatory HI [ 35 ].…”

Section: Pathogenesis Of Insulin Resistance In Polycystic Ovary Syndromementioning

confidence: 99%

Insulin resistance in polycystic ovary syndrome across various tissues: an updated review of pathogenesis, evaluation, and treatment

et al. 2023

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Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by chronic ovulation dysfunction and overabundance of androgens; it affects 6–20% of women of reproductive age. PCOS involves various pathophysiological factors, and affected women usually have significant insulin resistance (IR), which is a major cause of PCOS. IR and compensatory hyperinsulinaemia have differing pathogeneses in various tissues, and IR varies among different PCOS phenotypes. Genetic and epigenetic changes, hyperandrogenaemia, and obesity aggravate IR. Insulin sensitization drugs are a new treatment modality for PCOS. We searched PubMed, Google Scholar, Elsevier, and UpToDate databases in this review, and focused on the pathogenesis of IR in women with PCOS and the pathophysiology of IR in various tissues. In addition, the review provides a comprehensive overview of the current progress in the efficacy of insulin sensitization therapy in the management of PCOS, providing the latest evidence for the clinical treatment of women with PCOS and IR.

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“…IR polymorphism studies of the PCOS population were illustrated in (Table 2). [29][30][31][32][33][34][35][36][37][38][39]54 Genome-wide association study (GWAS) along with genetic polymorphism study are implicated to understand the genetic background in association with epigenetic factors, ethnicity, and lifestyle alternations of disease and syndrome. Goodarzi et al performed a study on components of an insulin signaling pathway to find out its interaction with PCOS where genotyping of INSR and 27 genes coding for different pathways including PI3K were incorporated.…”

Section: Insulin Resistance (Ir) and Pcos -Role Of Genetic Polymorphismmentioning

confidence: 99%

An insight of association of insulin resistance with polycystic ovary syndrome

Basu¹,

Chakraborty²,

Samaddar³

et al. 2022

IJCAP

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Polycystic ovary syndrome (PCOS), a multifaceted condition, often has salient features like insulin resistance (IR). Abnormal alternation in insulin synthesis and function usually alters PCOS expressivity by deviating molecular and biochemical activity underlying this pathophysiology.This review intends to unveil the molecular basis of the genetic polymorphism of IR and its correlation with PCOS. It also highlights the existing methods of IR estimation. Searching of different articles using keywords including PCOS, IR, and polymorphism in various databases was performed to illustrate the review article.POCS, and IR are complex and multifactorial conditions in terms of the contributing factors, their interactions, and expressivity. Further studies on diversified genotype responses to environmental and ethnic variances are required for precise understanding.Insulin resistance (IR) and polycystic ovary syndrome (PCOS) are intricately interacted conditions that abnormally alter functions from genetic to organ system level. Complex gene-environment interactions make it difficult to understand the etiology and manifestation, and so diagnosis and management approaches of the heterogeneous pathophysiology are not foolproof. Further studies on genetic susceptibility related to ethnic distribution are essential for the implementation of personalized treatment of IR and PCOS.

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Association of GWAS identified INSR variants (rs2059807 & rs1799817) with polycystic ovarian syndrome in Indian women

Cited by 19 publications

References 43 publications

PKOS’lu Hastalarda INSR geni Ekzom Dizileme Sonuçları

PKOS’lu Hastalarda INSR geni Ekzom Dizileme Sonuçları

Insulin resistance in polycystic ovary syndrome across various tissues: an updated review of pathogenesis, evaluation, and treatment

An insight of association of insulin resistance with polycystic ovary syndrome

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