Association of polymorphism within the PRNCR1 gene with PCOS: a case-control study

Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by metabolic and reproductive disturbances. Genetic factors contribute to its pathogenesis, with polymorphisms in various genes being implicated. This study investigates the association of the rs16901946 A/G polymorphism within the PRNCR1 gene with PCOS among women in Zahedan city.

A case-control study was conducted involving 150 confirmed PCOS patients and 150 healthy controls from Zahedan. Genomic DNA was extracted from peripheral blood samples, and genotyping for the rs16901946 A/G polymorphism was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Statistical analyses were conducted to compare allele frequencies and genotype distributions between the two groups, adjusting for potential confounders.

The results indicate that individuals with PCOS have significantly higher mean levels of BMI, WC, FBS, TC, and TG, whereas HDL levels are notably lower, with all differences having p-values < 0.001. However, age and LDL levels did not show significant differences between the groups. Additionally, analysis of the PRNCR1 gene polymorphism revealed significant associations with PCOS risk. Specifically, the heterozygous codominant model (p = 0.039), indicating a 2.10-fold increased risk. The homozygous codominant model had a stronger association with an OR of 5.29 (p = 0.027). In the dominant model the OR was 2.49 (p = 0.009), and in the recessive model, the OR was 4.81 (p = 0.042). Finally, the allelic model yielded an OR of 2.61 (p = 0.002).

The findings of this study suggest a significant association between the rs16901946 A/G polymorphism in the PRNCR1 gene and the susceptibility to PCOS in the Zahedan population. These results underscore the importance of genetic factors in the etiology of PCOS and may provide insights for future research and personalized treatment approaches.