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
{"title":"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。","authors":"Pravesh Hegde, Shilpa S Shetty, Prasanna Kumar Shetty, Lakshmi Manjeera, D Prashanth Shetty, Suchetha Kumari","doi":"10.1186/s43141-023-00540-7","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":74026,"journal":{"name":"Journal, genetic engineering & biotechnology","volume":"21 1","pages":"87"},"PeriodicalIF":3.6000,"publicationDate":"2023-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10441965/pdf/","citationCount":"0","resultStr":"{\"title\":\"Delineating the role of single-nucleotide polymorphism of CYP19 gene on aromatase activity in South Indian women with polycystic ovary syndrome.\",\"authors\":\"Pravesh Hegde, Shilpa S Shetty, Prasanna Kumar Shetty, Lakshmi Manjeera, D Prashanth Shetty, Suchetha Kumari\",\"doi\":\"10.1186/s43141-023-00540-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":74026,\"journal\":{\"name\":\"Journal, genetic engineering & biotechnology\",\"volume\":\"21 1\",\"pages\":\"87\"},\"PeriodicalIF\":3.6000,\"publicationDate\":\"2023-08-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10441965/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal, genetic engineering & biotechnology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s43141-023-00540-7\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal, genetic engineering & biotechnology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s43141-023-00540-7","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
引用次数: 0

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。

摘要图片

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Physiochemical analyses and molecular characterization of heavy metal-resistant bacteria from Ilesha gold mining sites in Nigeria. Whole genome sequence and comparative genomics analysis of multidrug-resistant Staphylococcus xylosus NM36 isolated from a cow with mastitis in Basrah city. Immunoinformatics-aided rational design of multiepitope-based peptide vaccine (MEBV) targeting human parainfluenza virus 3 (HPIV-3) stable proteins. Isolation of plant growth-promoting rhizobacteria from the agricultural fields of Tattiannaram, Telangana. Short tandem repeat (STR) variation from 6 cities in Iraq based on 15 loci.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1