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Review
. 2016 Dec;14(10):468-474.
doi: 10.1089/met.2016.0101. Epub 2016 Nov 3.

Polymorphisms of Cytokine Genes and Polycystic Ovary Syndrome: A Review

Josiane Bazzo de Alencar  1 , Hugo Vicentin Alves  1 , Laise Nayana Sala Elpidio  1 , Jeane Eliete Laguila Visentainer  1   2 , Ana Maria Sell  1
Affiliations
Review

Polymorphisms of Cytokine Genes and Polycystic Ovary Syndrome: A Review

Josiane Bazzo de Alencar et al. Metab Syndr Relat Disord. 2016 Dec.

Abstract

Background: Polycystic ovary syndrome (PCOS) is the endocrinopathy that affects women in their reproductive age. The physiopathology involves multifactorial mechanisms, including cytokine gene regulation.

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: SNP; cytokines; genetic polymorphisms; polycystic ovary syndrome.

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