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血管紧张素转换酶基因插入/缺失多态性与不同表型多囊卵巢综合征患者肾素-血管紧张素-醛固酮系统活性

Angiotensin-converting-enzyme gene insertion-deletion polymorphism and renin angiotensin aldosterone system activity in different phenotypes of polycystic ovary syndrome.

作者信息

Chaabouni Khansa, Saadallah-Kallel Amana, Ben Brahim Samia, Chaabane Kais, Frikha Madiha, Mnif Mouna, Keskes Leila, Abdelhedi Fatma, Ayadi Fatma

机构信息

Department of Biochemistry, Habib Bourguiba Hospital, Sfax, Tunisia.

Research Laboratory of Molecular Basis of Human Pathology (19ES13), Faculty of Medicine Sfax, University of Sfax, Tunisia.

出版信息

Heliyon. 2024 Nov 16;10(22):e40411. doi: 10.1016/j.heliyon.2024.e40411. eCollection 2024 Nov 30.

Abstract

UNLABELLED

Polycystic ovary syndrome (PCOS) is a common condition. Its pathophysiology involves an interaction between genetic and environmental factors, resulting in different reproductive and metabolic subtypes. Genetic variation in the angiotensin converting enzyme (ACE) gene has been implicated in the pathophysiology of the syndrome. Our project aims to investigate the relationship between the ACE I/D (insertion/deletion) polymorphism and circulating levels of ACE activity, renin and aldosterone in PCOS.

PATIENTS AND METHODS

PCOS and healthy donors were enrolled over 2 years. The Rotterdam criteria were used to segregate 4 phenotypes. Enrolled controls were matched to PCOS patients for body mass index. Clinical data were recorded and blood samples were taken for analysis of ACE I/D polymorphism and biochemical parameters. Hardy-Weinberg equilibrium evaluation, mean/median comparison and Spearman correlation were performed.

RESULTS

A total of 102 women with PCOS and 107 controls were involved in the study. The most common polymorphism was ID, both in the control and PCOS groups. Renin levels in PCOS patients were positively correlated with luteinizing hormone (LH) and anti-mullerian hormone (AMH) in the ID genotype and with testosterone, free androgen index and insulin in the DD genotype.

CONCLUSION

The ACE I/D variation may influence the pathophysiology of PCOS subtypes, together with an indirect relationship with renin. Our findings may provide valuable therapeutic insights into the management of PCOS, particularly regarding the potential need for ACE inhibitors or renin inhibitors tailored to ACE gene I/D genotypes or specific subtypes.

摘要

未标注

多囊卵巢综合征(PCOS)是一种常见病症。其病理生理学涉及遗传和环境因素之间的相互作用,导致不同的生殖和代谢亚型。血管紧张素转换酶(ACE)基因的遗传变异与该综合征的病理生理学有关。我们的项目旨在研究ACE I/D(插入/缺失)多态性与PCOS患者循环中ACE活性、肾素和醛固酮水平之间的关系。

患者与方法

在两年多的时间里招募了PCOS患者和健康供体。采用鹿特丹标准将其分为4种表型。入选的对照组在体重指数方面与PCOS患者相匹配。记录临床数据并采集血样,用于分析ACE I/D多态性和生化参数。进行了哈迪-温伯格平衡评估、均值/中位数比较以及斯皮尔曼相关性分析。

结果

共有102名PCOS女性和107名对照参与了该研究。对照组和PCOS组中最常见的多态性均为ID。在ID基因型中,PCOS患者的肾素水平与黄体生成素(LH)和抗苗勒管激素(AMH)呈正相关;在DD基因型中,与睾酮、游离雄激素指数和胰岛素呈正相关。

结论

ACE I/D变异可能影响PCOS亚型的病理生理学,且与肾素存在间接关系。我们的研究结果可能为PCOS的管理提供有价值的治疗见解,特别是关于根据ACE基因I/D基因型或特定亚型定制ACE抑制剂或肾素抑制剂的潜在需求。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a45/11617935/5cf810299481/gr1.jpg

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