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

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.

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.

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.

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