Date of Award

12-2024

Degree Type

Thesis

Degree Name

MPhil in Biological and Biomedical Sciences

First Advisor

Dr. Unab Khan

Second Advisor

Dr Samar Zaki

Third Advisor

Dr. Haq Nawaz

Department

Biological and Biomedical Sciences

Abstract

Polycystic Ovary Syndrome (PCOS) is a multifactorial endocrine-metabolic disorder depicted by reproductive dysfunction, increased metabolic, hormonal imbalances, cardiovascular, and psychological risks. This case-control study investigates the association of the Anti-Müllerian Hormone (AMH) gene polymorphism rs10407022 (-482 A>G, with the risk of PCOS in a Pakistani population. The study comprised 49 women diagnosed with PCOS and 50 women without PCOS as controls. Genotyping of the rs10407022 polymorphism was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), an economical and reliable method. Demographic data, biochemical parameters and lifestyle factors were also assessed. Serum AMH levels were significantly high in PCOS patients compared to controls, specifically in younger women, indicating raised ovarian reserve in PCOS. The genotype distribution of the AMH gene polymorphism (rs10407022) revealed a significant connection with PCOS risks. The chi-square analysis (χ² = 9.948, *p* = 0.007) demonstrated that the mutant homozygous genotype (AA) increases the risk of developing PCOS sevenfold compared to the wild-type genotype (GG). The odds ratio 95 % indicated a strong correlation, with a 95% confidence interval supporting increased risk. AMH levels were positively linked with luteinizing hormone (LH), highlighting its function in the hormonal dysregulation attributes of PCOS. These results indicates that AMH polymorphism (rs10407022) could help as a potential biomarker for PCOS, aiding to a better understanding of the hormonal and genetic mechanisms underlying this complex disorder.

First Page

1

Last Page

63

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