Association of tumor necrosis factor-α (-308 G/A) and interleukin-10 (-1082 A/G) gene polymorphisms with polycystic ovary syndrome in Iraqi women

Background: The etiologic factors of polycystic ovary syndrome (PCOS) are not well understood, however, several studies reported that genetics and environmental factors might be involved in the appearance of PCOS. Therefore understanding some molecular pathways can provide more information about PCOS. The imbalance of proinflammatory and anti-inflammatory cytokines could be associated with its pathophysiology. There are huge numbers of polymorphisms within cytokine genes that may affect their production and bring in the women more susceptible for PCOS. The aim of the present study was for evaluation the correlation of single nucleotide polymorphism (-308 G/A) in tumor necrosis factor-alpha (TNF-alpha) gene and (-1082 A/G) in interleukin-10 (IL-10) gene with PCOS. Methods: Patients group included 80 women who had a history of PCOS diagnosed using transvaginal or transabdominal ultrasound and don't have any of the inherited disorders such as androgen-secreting neoplasms, congenital adrenal hyperplasia, thyroid dysfunction, and hyperprolactinemia with a mean age (27.23 year). The control group included 70 women with a mean age (26.89 year). Levels of serum IL-10 and TNF-alpha in woman with PCOS and healthy control have been measured by Enzyme linked immunosorbent assay (ELISA). Single nudeotide polymorphism (SNP) in TNF-alpha (-308 G/A) and IL-10 (-1082 A/G) genes and the frequency of mutations in patient and control group were evaluated using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Results: Showed that serum IL-10 concentration was significantly decreased (p < 0.01) while TNF-alpha level was significantly increased (p < 0.01) in patients compared to control group. While the genotype prevalence of TNF-alpha (-308 G/A) and IL-10 (-1082 A/G) and the allele frequency show non-significant difference (p > 0.05) between women with PCOS and healthy controls. Conclusion: It is concluded that the level of TNF-alpha and IL-10 could be considered as possible biomarkers for PCOS while polymorphisms in IL-10 gene and TNF-alpha gene are not considered as risk factors of PCOS in Iraqi women, this suggests that further studies on other loci or other cytokines are required.