Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women

Ashraf, Sairish; Rasool, Shabhat; Nabi, Mudasar; Ganie, Mohd Ashraf; Masoodi, Shariq Rashid; Amin, Shajrul

doi:10.1038/s41598-021-92265-1

Cited by 13 publications

(5 citation statements)

References 22 publications

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“…Increased LH/FSH can induce androgen level and reduces the expression of estrogen, while increased androgen and decreased estrogen, in turn, aggravate LH/FSH via failure of dominant follicles, causing a vicious cycle. Also, PCOS women of the GG genotype had higher plasma insulin and HOMA-IR which was consistent with a study among the Kashmiri population, and findings by Sowers and colleagues, who had concluded a positive association of rs2414096 SNP of the CYP19 gene with hyperandrogenism in PCOS women [ 11 , 27 ]. The estradiol levels in PCOS and controls were not significantly different between the three genotypes.…”

Section: Discussionsupporting

confidence: 90%

Delineating the role of single-nucleotide polymorphism of CYP19 gene on aromatase activity in South Indian women with polycystic ovary syndrome

Hegde,

Shetty,

Shetty

et al. 2023

Journal of Genetic Engineering and Biotechnology

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Background Polycystic ovary syndrome is a common multifactorial endocrinopathy disorder affecting 5–15% of reproductive women worldwide. The CYP19 gene encodes key enzyme aromatase involved in androgen-to-estrogen conversion which plays a crucial role in the pathophysiology of the syndrome. Very few studies have been done in the Indian population; hence, we investigated whether CYP19 gene rs2414096 SNP is associated with PCOS and hyperandrogenism susceptibility in Karnataka women. Methods Three-hundred subjects including 150 PCOS and 150 age-matched controls were involved in the current case–control study. Sex hormones and biochemical estimation were performed by ELISA. Sanger sequencing and PCR–RFLP were used to genotype the SNP rs2414096. Genotypic-phenotypic association was studied. Statistical analysis was performed. Results The GG genotype was more common in patients, while the GA genotype was more common in control women. LH/FSH was significantly increased in GG genotype in PCOS when compared with AA and GA genotypes. Variations of CYP19 rs2414096 were not statistically significant with PCOS. Conclusion CYP19 rs2414096 polymorphism was not associated with PCOS; however, the homozygous wild GG genotype may exhibit reduced aromatase activity with subsequent hyperandrogenism implicating endocrine abnormalities.

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Section: Discussionsupporting

confidence: 90%

Delineating the role of single-nucleotide polymorphism of CYP19 gene on aromatase activity in South Indian women with polycystic ovary syndrome

Hegde,

Shetty,

Shetty

et al. 2023

Journal of Genetic Engineering and Biotechnology

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“…Ashraf et al reported a SNP (rs2414096) of the CYP19 gene to be associated the PCOS susceptibility and hyperandrogenism in patients from Kashmir, India [62].…”

Section: Cyp19 (Cytochrome P450 Family 19) Genementioning

confidence: 99%

Genetics and Epigenetics of Polycystic Ovary Syndrome

Prakash Goud Ponnam,

Paul

2024

Obstetrics and Gynecology

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Polycystic ovary syndrome (PCOS) is one of the most common endocrinological and reproductive disorders in women of reproductive age with a global prevalence rate of 5–20%. It is a clinically and genetically heterogeneous disorder. There have been multiple reports from independent research groups from different ethnicities that a variety of factors, including genetics and epigenetics, significantly contribute to the etiopathogenesis of PCOS. GWAS, twin studies, and genotype-phenotype association studies have resulted in the identification of more than a dozen candidate genes/loci with PCOS. In the proposed book chapter, we aim to provide insight and discuss the role of various genetic and epigenetic elements that are responsible for PCOS globally and in India. This book chapter should serve as a reference to all the basic researchers and healthcare professionals on the genetics and epigenetics of PCOS.

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“…In this regard, polymorphisms in CYP11A, CYP17, CYP19 and CYP21 genes are related to the alteration in the steroidogenesis with an overproduction of androgen hormones [ 45 ]. Recent studies have demonstrated that CYP 17 5’-UTR MspA1 (rs743572) and CYP 19 (rs2414096) polymorphisms increase the susceptibility to develop PCOS in young women, altering different hormone genesis pathways [ 46 , 47 , 48 ].…”

Section: Mechanisms Involved In Pcos Pathogenesismentioning

confidence: 99%

Metabolic and Molecular Mechanisms of Diet and Physical Exercise in the Management of Polycystic Ovarian Syndrome

et al. 2022

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Polycystic ovary syndrome (PCOS) is an endocrine systemic disorder mainly characterized by a hormonal and metabolic disbalance that leads to oligo/anovulation, hyperandrogenism and the formation of ovarian cysts. Despite the progress that has been reached in its diagnosis and management, little is known about the molecular mechanisms and signaling pathways underlying the pathogenic mechanisms. In this sense, recent research has suggested that the influence of multiple factors, including age, environment, lifestyle and the disease state environment can change the clinical presentation of PCOS via epigenetic modifications. Variants in the genes encoding for proteins involved in steroidogenesis and glucose homeostasis play a crucial role in the development of the disease. Other genes involved in inflammation and cell proliferation seem to undergo an epigenetic control. Moreover, lifestyle factors influence the PCOS course and prognosis, including diet and physical activity, which are fundamental in reducing oxidative stress, inflammation and in improving metabolic and hormonal parameters. In the present review, literature evidence on molecular and epigenetic mechanisms related to PCOS etiology will be discussed, with a particular attention on the positive influence of diet and physical activity as nonpharmacological ways of intervention in the management of the disease.

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Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women

Cited by 13 publications

References 22 publications

Delineating the role of single-nucleotide polymorphism of CYP19 gene on aromatase activity in South Indian women with polycystic ovary syndrome

Delineating the role of single-nucleotide polymorphism of CYP19 gene on aromatase activity in South Indian women with polycystic ovary syndrome

Genetics and Epigenetics of Polycystic Ovary Syndrome

Metabolic and Molecular Mechanisms of Diet and Physical Exercise in the Management of Polycystic Ovarian Syndrome

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