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

Abstract Polycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgen...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Sairish Ashraf, Shayaq Ul Abeer Rasool, Mudasar Nabi, Mohd Ashraf Ganie, Shariq R. Masoodi, Shajrul Amin
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/1606348f5eb1435f8d3e75dfdaaf565b
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:1606348f5eb1435f8d3e75dfdaaf565b
record_format	dspace
spelling	oai:doaj.org-article:1606348f5eb1435f8d3e75dfdaaf565b2021-12-02T18:02:49ZImpact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women10.1038/s41598-021-92265-12045-2322https://doaj.org/article/1606348f5eb1435f8d3e75dfdaaf565b2021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-92265-1https://doaj.org/toc/2045-2322Abstract Polycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens. Previous studies have reported contradictory results with regard to association of SNP rs2414096 in CYP19 gene with PCOS and hyperandrogenism in different ethnic populations. Present study was aimed to investigate the impact of SNP rs2414096 polymorphism of CYP19 gene on susceptibility of PCOS and hyperandrogenism in Kashmiri women. Further we also studied the genotypic-phenotypic association for various clinical and biochemical parameters of this polymorphism. Case control study. 394 PCOS cases diagnosed on the basis of Rotterdam criteria and age matched 306 healthy women. We found a significant differences in genotypic frequency (χ2 = 18.91, p < 0.05) as well as allele frequency (OR 0.63, CI 0.51–0.78, χ2 = 17.66, p < 0.05) between PCOS women and controls. The genotype–phenotype correlation analysis showed a significant difference in FG score (p = 0.047) and alopecia (p = 0.045) between the three genotypes. Also, the androgen excess markers like DHEAS (p < 0.001), Androstenedione (p < 0.001), Testosterone (p < 0.001) and FAI (p = 0.005) were significantly elevated in GG genotype and showed a significant difference in additive model in PCOS women. rs2414096 polymorphism of CYP19 gene is associated with the risk of PCOS as well as with clinical and biochemical markers of hyperandrogenism, hence suggesting its role in clinical manifestations of PCOS in Kashmiri women.Sairish AshrafShayaq Ul Abeer RasoolMudasar NabiMohd Ashraf GanieShariq R. MasoodiShajrul AminNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sairish Ashraf Shayaq Ul Abeer Rasool Mudasar Nabi Mohd Ashraf Ganie Shariq R. Masoodi Shajrul Amin Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women
description	Abstract Polycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens. Previous studies have reported contradictory results with regard to association of SNP rs2414096 in CYP19 gene with PCOS and hyperandrogenism in different ethnic populations. Present study was aimed to investigate the impact of SNP rs2414096 polymorphism of CYP19 gene on susceptibility of PCOS and hyperandrogenism in Kashmiri women. Further we also studied the genotypic-phenotypic association for various clinical and biochemical parameters of this polymorphism. Case control study. 394 PCOS cases diagnosed on the basis of Rotterdam criteria and age matched 306 healthy women. We found a significant differences in genotypic frequency (χ2 = 18.91, p < 0.05) as well as allele frequency (OR 0.63, CI 0.51–0.78, χ2 = 17.66, p < 0.05) between PCOS women and controls. The genotype–phenotype correlation analysis showed a significant difference in FG score (p = 0.047) and alopecia (p = 0.045) between the three genotypes. Also, the androgen excess markers like DHEAS (p < 0.001), Androstenedione (p < 0.001), Testosterone (p < 0.001) and FAI (p = 0.005) were significantly elevated in GG genotype and showed a significant difference in additive model in PCOS women. rs2414096 polymorphism of CYP19 gene is associated with the risk of PCOS as well as with clinical and biochemical markers of hyperandrogenism, hence suggesting its role in clinical manifestations of PCOS in Kashmiri women.
format	article
author	Sairish Ashraf Shayaq Ul Abeer Rasool Mudasar Nabi Mohd Ashraf Ganie Shariq R. Masoodi Shajrul Amin
author_facet	Sairish Ashraf Shayaq Ul Abeer Rasool Mudasar Nabi Mohd Ashraf Ganie Shariq R. Masoodi Shajrul Amin
author_sort	Sairish Ashraf
title	Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women
title_short	Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women
title_full	Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women
title_fullStr	Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women
title_full_unstemmed	Impact of rs2414096 polymorphism of CYP19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in Kashmiri women
title_sort	impact of rs2414096 polymorphism of cyp19 gene on susceptibility of polycystic ovary syndrome and hyperandrogenism in kashmiri women
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/1606348f5eb1435f8d3e75dfdaaf565b
work_keys_str_mv	AT sairishashraf impactofrs2414096polymorphismofcyp19geneonsusceptibilityofpolycysticovarysyndromeandhyperandrogenisminkashmiriwomen AT shayaqulabeerrasool impactofrs2414096polymorphismofcyp19geneonsusceptibilityofpolycysticovarysyndromeandhyperandrogenisminkashmiriwomen AT mudasarnabi impactofrs2414096polymorphismofcyp19geneonsusceptibilityofpolycysticovarysyndromeandhyperandrogenisminkashmiriwomen AT mohdashrafganie impactofrs2414096polymorphismofcyp19geneonsusceptibilityofpolycysticovarysyndromeandhyperandrogenisminkashmiriwomen AT shariqrmasoodi impactofrs2414096polymorphismofcyp19geneonsusceptibilityofpolycysticovarysyndromeandhyperandrogenisminkashmiriwomen AT shajrulamin impactofrs2414096polymorphismofcyp19geneonsusceptibilityofpolycysticovarysyndromeandhyperandrogenisminkashmiriwomen
_version_	1718378852918493184

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

Ejemplares similares