Peripheral blood-derived cytokine gene polymorphisms and metabolic profile in women with polycystic ovary syndrome

Abstract Background The imbalance between proinflammatory and anti-inflammatory pathways plays a role in polycystic ovary syndrome (PCOS) etiology. We aimed to investigate the relationship between polymorphisms of genes encoding inflammation-associated cytokines and the metabolic profile of Brazilian women with PCOS. Design Case-control study. Methods The study included 196 women – 97 with PCOS (diagnosed based on Rotterdam criteria, 2003) and 99 age-matched, healthy women (controls). It was investigated polymorphisms in cytokines genes from peripheral blood-derived DNA by using PCR. Results The frequencies of alleles, genotypes, and phenotypes were similar between women with PCOS and controls. The GG genotype of the −179C/G polymorphism ( IL 6) was associated with higher glucose levels, while the GA and AA genotypes of the −1082A/G polymorphism ( IL 10), CT and TT genotypes of the −819A/T polymorphism ( IL 10), CA and AA genotypes of the −522A/G ( IL 10) polymorphism, and TA genotype of the +874T/A polymorphism ( IFN-γ ) were associated with lower total cholesterol and triglycerides levels. The GA genotype of the −1082A/G polymorphism ( IL 10) and the CC genotype of the 10T/C polymorphism ( TGF -β1) were associated with lower and higher Ferriman indices, respectively, in women with PCOS. The AA genotype of the −1082A/G polymorphism ( IL 10) was associated with lower glucose levels, while the TC genotype of the 10T/C polymorphism ( TGF-β1 ) was associated with a lower lipid accumulation product index and higher high-density lipoprotein cholesterol levels in the PCOS group. Conclusions The genetic polymorphisms of cytokines are not associated with PCOS development, but may contribute to common metabolic disorders associated with PCOS.