Polymorphisms of Cytokine Genes and Polycystic Ovary Syndrome: A Review.
Polycystic ovary syndrome (PCOS) is the endocrinopathy that affects women in their reproductive age. The physiopathology involves multifactorial mechanisms, including cytokine gene regulation.



The review was conducted in the database PubMed, with articles published between 2005 and 2015. The selected studies evaluated the single-nucleotide polymorphisms (SNPs) of cytokines genes in association with PCOS. Twenty-four studies met the inclusion criteria and showed the SNPs of cytokines that were associated or not with PCOS.



The disease susceptibility was associated with interleukin (IL) 1A, IL1B, IL1RN, and IL6 alleles and genotypes. The tumor necrosis factor (TNF) -1032 C/T genotype and C allele were risk factors and T/T genotype was a protector marker to disease. The IL18 SNPs were not associated with PCOS per se, but IL18-137 C and G alleles were related to the protection of insulin resistance and glucose tolerance, respectively. One research found association between TGFB1 and PCOS. However, the TNF -308, IL10, and interferon (IFN) SNPs did not appear to influence PCOS genetic susceptibility.



This study sought to contribute and clarify the SNPs in cytokine genes that influence the development of PCOS. Most studies occurred in Asia; most SNPs studied were in IL1B -511, TNF -1031, and IL6-174; and most of them were associated with the susceptibility to PCOS development. Nevertheless, further investigations based on genome-wide association studies and cytokine gene SNPs are needed to better characterize the risk factors to PCOS.
1 Program of Biosciences and Physiopathology, Department of Clinical Analysis and Biomedicine, State University of Maringá, Maringá, UEM, Paraná, Brazil .
Josiane Bazzo
JB
de Alencar
1 Program of Biosciences and Physiopathology, Department of Clinical Analysis and Biomedicine, State University of Maringá, Maringá, UEM, Paraná, Brazil .
Hugo Vicentin
HV
Alves
1 Program of Biosciences and Physiopathology, Department of Clinical Analysis and Biomedicine, State University of Maringá, Maringá, UEM, Paraná, Brazil .
Laise Nayana Sala
LN
Elpidio
1 Program of Biosciences and Physiopathology, Department of Clinical Analysis and Biomedicine, State University of Maringá, Maringá, UEM, Paraná, Brazil .|2 Immunogenetics Laboratory, Department of Basic Health Sciences, State University of Maringá, UEM, Maringá, Paraná, Brazil .
Jeane Eliete Laguila
JE
Visentainer
1 Program of Biosciences and Physiopathology, Department of Clinical Analysis and Biomedicine, State University of Maringá, Maringá, UEM, Paraná, Brazil .
Ana Maria
AM
Sell
D016207:Cytokines / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D016207:Cytokines
SNP; cytokines; genetic polymorphisms; polycystic ovary syndrome