The Role of AMH and AMHR2 Variants in Polycystic Ovary Syndrome: ‘A Comprehensive Analysis’

IF 2.4 3区医学 Q2 ENDOCRINOLOGY & METABOLISM

Clinical Endocrinology Pub Date : 2025-05-08 DOI:10.1111/cen.15269

Sameh Sarray, Intissar Ezzidi, Assila Ben Salem, Hassen Ben Abdennebi, Nabil Mtiraoui

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引用次数: 0

Abstract

Background

Variants in the genes encoding anti-mullerian hormone (AMH) and its receptor 2 (AMHR2) have been identified as potential contributors to the development of polycystic ovary syndrome (PCOS). However, results from association studies examining their role in PCOS have been inconsistent.

This study aims to investigate the potential association between AMH and AMHR2 gene variants and the risk of PCOS as well as their influence on serum AMH levels in a Tunisian cohort.

Methods

The case-control study recruited 327 PCOS women and 396 healthy controls. DNA was extracted and genotyped for three variants in the AMH gene namely, rs4807216, rs10407022 and rs8112524 as well as three variants in the AMHR2 gene, including rs2002555, rs11170553 and rs2272002, using the TaqMan SNP genotyping assay. Fasting serum AMH levels were quantified using ELISA.

Results

Significant metabolic differences were observed in the PCOS cohort, including higher BMI, and elevated levels of AMH, glucose, triglycerides, and cholesterol, along with lower FSH levels. The investigation of genetic associations between AMH and AMHR2 gene variants and PCOS susceptibility revealed notable genotype-specific correlations with lipid profiles. Specifically, the AMH rs8112524 A/A and G/A genotypes were correlated to increased triglyceride levels, while the AMHR2 rs2002555 G/G genotype, as well as the rs11170553 T/T and C/T genotypes, were correlated with decreased HDL levels. However, no significant allelic, genotypic or haplotypic associations were identified, nor was any substantial impact on serum AMH levels observed. Additionally, interaction and epistasis analyses indicated that the AMH and AMHR2 variants had no significant predictive capabilities regarding PCOS susceptibility.

Conclusion

Although AMH and AMHR2 variants may not directly influence PCOS susceptibility, they could play a role in modulating lipid metabolism associated with the syndrome.

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AMH和AMHR2变异在多囊卵巢综合征中的作用：“综合分析”。

背景：编码抗苗勒管激素（AMH）及其受体2 （AMHR2）的基因变异已被确定为多囊卵巢综合征（PCOS）发展的潜在因素。然而，关于它们在多囊卵巢综合征中的作用的关联研究结果并不一致。本研究旨在调查AMH和AMHR2基因变异与多囊卵巢综合征风险之间的潜在关联，以及它们对突尼斯队列血清AMH水平的影响。方法：选取PCOS女性327例，健康对照396例。提取AMH基因的3个变异rs4807216、rs10407022和rs8112524，以及AMHR2基因的3个变异rs2002555、rs11170553和rs2272002，采用TaqMan SNP基因分型方法进行基因分型。ELISA法测定空腹血清AMH水平。结果：在PCOS队列中观察到显著的代谢差异，包括较高的BMI， AMH、葡萄糖、甘油三酯和胆固醇水平升高，以及较低的FSH水平。AMH和AMHR2基因变异与PCOS易感性之间的遗传关联调查显示，基因型特异性与脂质谱相关。具体而言，AMH rs8112524 A/A和G/A基因型与甘油三酯水平升高相关，而AMHR2 rs2002555 G/G基因型以及rs11170553 T/T和C/T基因型与HDL水平降低相关。然而，没有发现显著的等位基因、基因型或单倍型关联，也没有观察到对血清AMH水平的实质性影响。此外，相互作用和上位性分析表明，AMH和AMHR2变异对PCOS易感性没有显著的预测能力。结论：虽然AMH和AMHR2变异可能不直接影响PCOS的易感性，但它们可能在调节PCOS相关的脂质代谢中发挥作用。

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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来源期刊

Clinical Endocrinology 医学-内分泌学与代谢

CiteScore

6.40

自引率

3.10%

发文量

192

审稿时长

1 months

期刊介绍： Clinical Endocrinology publishes papers and reviews which focus on the clinical aspects of endocrinology, including the clinical application of molecular endocrinology. It does not publish papers relating directly to diabetes care and clinical management. It features reviews, original papers, commentaries, correspondence and Clinical Questions. Clinical Endocrinology is essential reading not only for those engaged in endocrinological research but also for those involved primarily in clinical practice.