Investigating the interplay between AMH gene polymorphism rs10407022 and clinical indicators in polycystic ovary syndrome

Abstract

Purpose

PCOS is a multifaceted endocrine disorder with a complex etiology that includes genetic and environmental influences. The Anti-Mullerian Hormone is essential in menstrual disorders and fertility, as it is involved in growth differentiation and folliculogenesis. The AMH gene polymorphism, specifically p.Ile49Ser, has been proposed to play a role in the pathogenesis of PCOS, but its significance in Indian populations has yet to be determined.

Methods

A case-control study was carried out on 129 women from Gujarat, India, aged 13 to 40 years (59 with PCOS and 70 controls). Clinical, biochemical, and hormonal parameters were examined, and tetra-ARMS PCR was used for genotyping the AMH gene polymorphism (p.Ile49Ser). The relationships between polymorphism, hormonal imbalances, and PCOS were studied using different statistical methods.

Results

The mean BMI in the PCOS group was significantly higher (27.32 ± 5.71) in comparison to the control group (23.81 ± 5.47, p = 0.001), with 67.80% of PCOS cases being obese. Notably, serum LH and T levels were significantly higher in PCOS women, whereas DHEAS levels were significantly lower (p < 0.05). However, the distribution of AMH gene rs10407022 genotypes and alleles did not differ significantly between groups, and no associations with PCOS risk were found.

Conclusion

Obesity and hormonal imbalances have a significant impact on PCOS in Gujarati women, according to this study. Even though the AMH gene polymorphism (p.Ile49Ser) did not show a significant association with PCOS, the findings encourage further genetic research in diverse Indian populations to uncover the complex genetic background of PCOS.