描述CYP19基因单核苷酸多态性在南印度多囊卵巢综合征妇女芳香酶活性中的作用。

IF 3.6 Q2 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Journal, genetic engineering & biotechnology Pub Date : 2023-08-21 DOI:10.1186/s43141-023-00540-7
Pravesh Hegde, Shilpa S Shetty, Prasanna Kumar Shetty, Lakshmi Manjeera, D Prashanth Shetty, Suchetha Kumari
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摘要

背景:多囊卵巢综合征是一种常见的多因素内分泌疾病,影响全世界5-15%的育龄妇女。CYP19基因编码的关键酶芳香化酶参与雄激素到雌激素的转化,在综合征的病理生理中起着至关重要的作用。对印度人进行的研究很少;因此,我们研究了CYP19基因rs2414096 SNP是否与卡纳塔克邦女性多囊卵巢综合征和高雄激素症易感性相关。方法:300例PCOS患者,其中150例为PCOS患者,150例为年龄相匹配的对照组。用ELISA法测定性激素及生化指标。采用Sanger测序和PCR-RFLP对SNP rs2414096进行基因分型。研究了基因型-表型关联。进行统计学分析。结果:患者中GG基因型多见,对照组中GA基因型多见。与AA和GA基因型相比,GG基因型PCOS患者LH/FSH显著升高。CYP19 rs2414096的变异在PCOS中无统计学意义。结论:CYP19 rs2414096多态性与PCOS无相关性;然而,纯合子野生GG基因型可能表现出芳香酶活性降低,随后出现高雄激素症,暗示内分泌异常。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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

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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