SNP rs2470152 in CYP19 is correlated to aromatase activity in Chinese polycystic ovary syndrome patients

Zhang, Xinlin; Zhang, Cheng-Wei; Xu, Pei; Liang, Fengjing; Che, Yena; Xia, Yijun; Cao, Yunxia; Wu, Xiaoke; Wang, Wenjun; Yi, Long; Gao, Qian; Wang, Yong

doi:10.3892/mmr.2011.616

Cited by 18 publications

(7 citation statements)

References 19 publications

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“…Xu et al showed that PCOS patients had a higher frequency of (TT/TA) alleles in intron 4 of CYP19 gene, albeit they concluded it may not affect the risk of PCOS ( 20 ). Also, TC genotype of SNP rs.2470152 in CYP19 seems to inhibit aromatase activity and leads to hyperandrogenism in PCOS patients ( 21 ). Although the aforementioned researches were done on the different region (promoter) and SNPs of CYP19 gene their results are in agreement with our results based on the fact that CYP19 gene might be correlated with PCOS predisposition.…”

Section: Discussionmentioning

confidence: 99%

Association of SNP rs.2414096 CYP19 gene with polycystic ovarian syndrome in Iranian women

Mehdizadeh

Kalantar

Sheikhha

et al. 2017

IJRM

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Background: Genetic factors are believed to play an important role in the etiology of polycystic ovarian syndrome (PCOS) which is the most common endocrinological disorder of women in their reproductive age. Androgen metabolism is impaired in PCOS and, thus, CYP19 gene which is involved in this pathway can be a candidate gene. Previous studies have shown a relationship between single nucleotide polymorphism (SNP) of CYP19 in hyperandrogenism and PCOS in some racial groups. Objective: This study was designed to elucidate the role of CYP19 gene in PCOS in Iran. Materials and Methods:In this case-control study, 70 PCOS women and 70 non-PCOS women as normal control were selected. Following the informed consent, 5 ml blood was taken from individuals and subsequently, genomic DNA was extracted by salting out method. Furthermore, a set of polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was carried out using specific primers for SNP rs.2414096 followed by enzyme digestion, with HSP92II. Results: Genotype frequencies of SNP rs. 2414096 in PCOS women were as follows: AA (14.4%), AG (44.3%), and GG (41.4%) while in normal group, genotypes were 24.3%, 52.8%, and 22.9%, respectively. Allele frequencies in PCOS group were 49.3% for A and 50.7% for G, whereas normal group had a different percentage of A (36.4%) and G (63.6%). The calculations for both genotypic and allelic frequencies showed statistical significance difference. Conclusion: Variants of SNP rs. 2414096 in CYP19 could play a role in the development of PCOS in Iranian women.

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Section: Discussionmentioning

confidence: 99%

Association of SNP rs.2414096 CYP19 gene with polycystic ovarian syndrome in Iranian women

Mehdizadeh

Kalantar

Sheikhha

et al. 2017

IJRM

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“…Carriers of 11 repeat alleles are also commonly found in Chinese women with PCOS [ 97 , 98 ] which influence lipid metabolism [ 97 ]. Another polymorphism, rs2470152, did not affect PCOS risk but the heterozygous TC genotype was found to be significantly associated with increased testosterone levels with decreased E2/T ratio, suggesting role of this polymorphism in regulating aromatase activity [ 99 ]. A missense polymorphism, Arg264Cys, increases aromatase activity and affects PCOS susceptibility [ 100 ].…”

Section: Genetics Of Pcosmentioning

confidence: 99%

Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

Dadachanji

Shaikh

Mukherjee

2018

Genetics Research International

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Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including hirsutism, acne, and male pattern alopecia in affected women. Increased androgen levels may be intrinsic or aggravated by preexisting insulin resistance in women with PCOS. Studies have reported augmented ovarian steroidogenesis patterns attributed mainly to theca cell hypertrophy and altered expression of key enzymes in the steroidogenic pathway. Candidate gene studies have been performed in order to delineate the association of polymorphisms in genes, which encode enzymes in the intricate cascade of steroidogenesis or modulate the levels and action of circulating androgens, with risk of PCOS development and its related traits. However, inconsistent findings have impacted the emergence of a unanimously accepted genetic marker for PCOS susceptibility. In the current review, we have summarized the influence of polymorphisms in important androgen related genes in governing genetic predisposition to PCOS and its related metabolic and reproductive traits.

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“…Our results showed that the CYP19A1 promoter methylation level was significantly higher in PCOS samples than in controls. The E 2 /T ratio was used as an indirect measure for aromatase activity [24]. Compared with controls, PCOS had lower levels of E 2 /T (p < 0.05), and CYP19A1 mRNA and protein levels were both significantly lower in PCOS ovaries than in control samples.…”

Section: Discussionmentioning

confidence: 99%

Promoter Methylation of <b><i>CYP19A1</i></b> Gene in Chinese Polycystic Ovary Syndrome Patients

Yu¹,

Sun²,

Liu

et al. 2013

Gynecol Obstet Invest

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Aims: This study aimed to examine the methylation status of the CYP19A1 promoter region in Chinese polycystic ovary syndrome (PCOS) patients. Methods: A case-control study was designed that involved 10 PCOS patients and 10 controls. Ovary tissues obtained from 10 women with PCOS and 10 healthy controls were matched for body mass index and age. Methylation of CYP19A1 promoter was detected by methylation-specific PCR. CYP19A1 expression was measured by real-time PCR and Western blotting. Results: The methylation level of CYP19A1 promoter in PCOS samples was significantly higher than in controls (0.698 ± 0.192 vs. 0.210 ± 0.064, p < 0.01). A significant downregulation of CYP19A1 mRNA and protein expression levels was observed in PCOS ovary tissues. Furthermore, the scatter plot revealed that promoter methylation was inversely correlated with CYP19A1 mRNA level (Pearson's correlation -0.820, p < 0.01). Conclusion:CYP19A1 expression is frequently repressed in PCOS ovaries due to the promoter hypermethylation. CYP19A1 promoter hypermethylation may play a key role in the pathogenesis of PCOS.

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SNP rs2470152 in CYP19 is correlated to aromatase activity in Chinese polycystic ovary syndrome patients

Cited by 18 publications

References 19 publications

Association of SNP rs.2414096 CYP19 gene with polycystic ovarian syndrome in Iranian women

Association of SNP rs.2414096 CYP19 gene with polycystic ovarian syndrome in Iranian women

Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

Promoter Methylation of <b><i>CYP19A1</i></b> Gene in Chinese Polycystic Ovary Syndrome Patients

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