Abstract—Polycystic Ovarian Syndrome (PCOS) is a complex endocrine disorder commonly seen in about 6.5 - 8% of women of reproductive age. Polygenic trait is common in PCOS and various factors related to the androgenic pathways and the metabolic syndrome have been studied including genes encoding inflammatory cytokines. In this respect we aimed to study the involvement of polymorphisms of four genes; cytochrome P450 1A1 (CYP1A1), intercellular adhesion of molecule (ICAM-1), tumour necrosis factor alpha (TNF-α) and insulin receptor gene (INSR). Twelve women fulfilling the criteria of PCOS and 145 controls were recruited. In this study, TNF-α -1031 (T/C) (rs1799964) is found to be significantly higher in PCOS group compared to healthy controls (OR = 5.044; CI: 2.139 - 11.899; p-value < 0.05). This suggests TNF-α -1031 (T/C) appears to be a potential candidate as a molecular marker in determining PCOS risk. This study also found a strong association between PCOS and obesity (BMI>25); obesity is a major risk factor of PCOS. Studies of association enables clinicians to have a better understanding of the genetic factors for PCOS especially in a multi-ethnic population such as Malaysia, where robust data addressing PCOS are still lacking.

Index Terms—polycystic ovarian syndrome (PCOS), polymorphism, single nucleotide polymorphisms (SNPs)

Cite: H. Hazwanie, S. Y. Gan, and Sivalingam Nalliah, "The Relevance of Genetic Polymorphism of CYP1A1, ICAM-1, TNF-α and INSR Genes in Women with Polycystic Ovary Syndrome (PCOS)," Journal of Medical and Bioengineering, Vol. 4, No. 5, pp. 367-370, October 2015. Doi: 10.12720/jomb.4.5.367-370