Anti-Mullerian Hormone Gene Polymorphism in Polycystic ovary syndrome: A pilot study

Background & Objective: Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine condition; characterized by ovulatory disturbance, which is attributed to elevated anti Mullerian hormone (AMH) levels. We compared AMH levels in females with and without PCOS and aimed to determine the genetic variant; rs10407022 in AMH of Pakistani females with PCOS. Methodology: This case control study was conducted at Aga Khan University from January, 2024 till November, 2024 on 99 female subjects (49 PCOS, 50 controls). Serum AMH levels were measured using commercially available kits and the genotyping of AMH rs10407022 SNP was done by Tetra-ARMS-PCR in both groups. Results were validated by Polymerase Chain Reaction-Restricted Fragment Length Polymorphism (PCR-RFLP). Final validation was conducted via Sanger DNA sequencing of randomly selected samples of PCOS females. Results: Higher AMH levels were observed in females with PCOS [6.47 ± 6.05 vs 3.06 ± 1.91(ng/ml); p value <0.0001]. PCR amplified the AMH (rs10407022) in PCOS samples, showing control band at 238 bp and band at 135 bp for genotype. Further, the SNP (Homozygous WT/MT and heterozygous) was validated by RFLP and a gold standard Sanger DNA sequencing. Conclusion: High AMH levels associated with the genetic variant (rs10407022) of AMH suggest role of AMH gene dysregulation in the manifestation of PCOS.