Potential environmental toxicant exposure, metabolizing gene variants and risk of PCOS-A systematic review

Sharma, Priya; Bilkhiwal, Nisha; Chaturvedi, Pragya; Kumar, Sachin; Khetarpal, Preeti

doi:10.1016/j.reprotox.2021.06.005

Cited by 9 publications

(1 citation statement)

References 131 publications

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“…Due to its heterogeneity, PCOS although diagnosed as per Rotterdam criteria, is classi ed into four subtypes which is primarily based upon the clinical features of oligomenorrhea, hyperandrogenism and polycystic ovaries in various combination and with different phenotypes [11]. The cause of PCOS includes genetic susceptibility, and environmental factors such as availability of trace elements, and exposure to environmental pollutants [12]. Se supplementation in women with PCOS have signi cantly decreased level of serum insulin and lipid pro les, which shows protective role of selenium [13].…”

Section: Introductionmentioning

confidence: 99%

Genetic Determinants of Selenium Availability, Selenium-Response, and Risk of Polycystic Ovary Syndrome

Sharma,

Khetarpal

2024

Biol Trace Elem Res

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Selenium is a trace element and its de ciency has been associated with the risk of PCOS, a multifactorial syndrome that affects a large number of women worldwide. Several databases and literature were searched to nd out genetic variants of the genes involved in selenium uptake, metabolism and regulation which may be signi cantly associated with risk of PCOS through Se related pathways. Genes whish require selenium for their biological actions to perform were also shortlisted. A total of eighteen signi cantly associated genes were identi ed which were shortlisted among forty-four variants that could play potential role in the PCOS risk among the study population. The genetic variant distribution data was available in-house and was obtained through GWAS study of the North India population. In silico tools were applied to understand the functional impact of these variants. Three variants namely LDLR(rs2228671), TNF (rs1041981), and SAA2 (rs2468844) are strongly associated with PCOS risk and have a functional impact on encoded protein. Certain variants of Se uptake genes such as DIO1, GPX2, TXNRD1, DIO2 GPX3 genes signi cantly increase or decrease risk of PCOS development. Se transporter gene SELENOP polymorphism rs9686343 with C allele signi cantly increased PCOS risk. Other potential genes that require selenium for their biological actions are involved in the in ammatory, antioxidant response, and energy homeostasis signaling pathways. Thus genetic variants of the population may affect the Se availability or Se de ciency may modulate the effect of Se-associated genes due to genetic polymorphism. This information may be helpful in dosage adjustment of Se supplementation for a population in order to have maximum bene ts.

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Section: Introductionmentioning

confidence: 99%

Genetic Determinants of Selenium Availability, Selenium-Response, and Risk of Polycystic Ovary Syndrome

Sharma,

Khetarpal

2024

Biol Trace Elem Res

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Genome-wide association study (GWAS) identified PCOS susceptibility variants and replicates reported risk variants

Sharma,

Senapati,

Goyal

et al. 2024

Arch Gynecol Obstet

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Background: Genetic predisposition and environmental factors are considered as risk factors for polycystic ovary syndrome (PCOS). Genome-wide association studies (GWAS) have been reported from various subpopulations to evaluate SNPs associated with PCOS risk. As no PCOS associated GWAS study has been reported from India.Purpose: Present study was conducted to identify the PCOS-susceptible loci among the North Indian population and validation of signi cant loci reported by previous GWAS studies.Methods: A total of 272 age-matched participants with 134 PCOS patients and 138 healthy controls were recruited.Genomic DNA was isolated and genotyped by using In nium Global Screening Array v3.0 microchip considering HWE 10e -5 statistically signi cant.Results: A total of fteen markers have been identi ed as candidate PCOS risk factors. Only two SNPs, namely rs17186366 and rs11171739 have been identi ed through replication analysis while comparing the previously reported PCOS GWAS data. In-silico analysis was performed to study the functional impact of identi ed gene variants in terms of gene ontology, pathways related to gene set, and cluster analysis to determine protein-protein interaction among genes or gene products.Conclusion: Study suggests that multiple variants play an important role in PCOS pathogenesis and emphasize the importance of further genetic studies among Indian subpopulations. What this study adds to clinical workStudy summarizes the importance of potential gene markers validated by replication and in-silico functional study, signi cantly involved in PCOS pathogenesis in studied population. These markers can be used in future as diagnostic markers for clinical phenotype identi cation.

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Assessment of Serum Elements Concentration and Polycystic Ovary Syndrome (PCOS): Systematic Review and Meta-analysis

Sharma

Gupta

Kumar

et al. 2022

Biol Trace Elem Res

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Potential environmental toxicant exposure, metabolizing gene variants and risk of PCOS-A systematic review

Cited by 9 publications

References 131 publications

Genetic Determinants of Selenium Availability, Selenium-Response, and Risk of Polycystic Ovary Syndrome

Genetic Determinants of Selenium Availability, Selenium-Response, and Risk of Polycystic Ovary Syndrome

Genome-wide association study (GWAS) identified PCOS susceptibility variants and replicates reported risk variants

Assessment of Serum Elements Concentration and Polycystic Ovary Syndrome (PCOS): Systematic Review and Meta-analysis

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