Association of polycystic ovarian syndrome with inflammatory single nucleotide polymorphism for IL-1 & IL-6 genes: A case-control study.

Background & objectives Persistent mild inflammation is considered as a main contributor to the altered genesis of polycystic ovary syndrome (PCOS), with numerous studies reporting elevated serum levels of inflammatory markers. This inflammatory state may be attributed to genetic variants, particularly single nucleotide polymorphisms (SNP), that alter cytokine regulation. This study investigated the association of PCOS and inflammatory SNPs including interleukin (IL) such as IL-1β rs1143634, IL-1β rs16944, IL-6 rs1800795, IL-6 rs1800797, IL-6 rs1800796, IL-1RN; and tumour necrosis factor-alpha (TNF-α). Methods A total of 250 women volunteered for the study; of which 100 were diagnosed with PCOS and 150 were healthy controls. Serum levels of IL-6, IL-1β, and TNF-α were measured using enzyme-linked immunosorbent assay (ELISA). Genotyping was analysed using polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism (PCR-RFLP), or real-time PCR (RT-PCR). Genotype distributions amid groups were compared using the Chi-square test. Results Women with PCOS exhibited elevated serum levels of IL-1β than those of healthy controls which was considerably significant (P<0.001). The heterozygous genotypes of IL-1RN and IL-6 rs1800796 were seen more frequently in the control group (P=0.02), suggesting a potential inverse association. Interpretation & conclusions SNPs in IL-1 and IL-6 genes may influence susceptibility to PCOS and could confer a protective role in women of South Asian Indian origin.