A functional promoter polymorphism in interleukin 12B gene is associated with an increased risk of ovarian endometriosis

Zhao W, Wei Zhao, Li Y, Yan Li, Jian Zhao, Zhao J, Shan Kang, Kang S
Gene · 2018 · vol. 666 , pp. 27–31 · doi:10.1016/j.gene.2018.04.082 · PMID:29738836 · W2799300062
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This study identified a functional promoter polymorphism in the interleukin 12B gene that is linked to a higher risk of developing ovarian endometriosis.

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Abstract

ObjectiveTo explore the role of functional genetic variant of IL12B in the pathogenesis of ovarian endometriosis.Study designThis study included 815 patients with ovarian endometriosis and 788 women in the control group. Two polymorphisms were genotyped by a method of polymerase chain reaction and ligase detection reaction. To assess the biological significance of polymorphisms, we detected the level of IL12p40 protein expression in patients' eutopic endometrial tissues using quantitative real-time polymerase chain reaction (qRT-PCR).Result(s)Compared with the CTCTAA/CTCTAA genotype, the GC/GC and GC/CTCTAA genotypes of rs17860508 could significantly increase the risk of ovarian endometriosis development (OR = 1.58, 95% CI = 1.19-2.09; OR = 1.37, 95% CI = 1.08-1.74, respectively). Moreover, the IL12B mRNA was expressed at significantly higher levels in the eutopic endometrial tissue of patients with the GC/GC genotype than in patients with the CTCTAA/CTCTAA genotype. However, the rs3212227 polymorphism may not be associated with a risk of ovarian endometriosis.Conclusion(s)The rs17860508 polymorphism in the IL12B promoter region may influence the risk of developing ovarian endometriosis by altering the endometrial expression of IL12B of in Northern Chinese women.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Interleukin-12 Subunit p40 Ovarian Diseases Promoter Regions, Genetic Adult Case-Control Studies Endometriosis Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Humans Interleukin-12 Subunit p40 Ovarian Diseases Polymorphism, Single Nucleotide Risk Factors

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