Functional genetic polymorphisms in interleukin-12B gene in association with systemic lupus erythematosus.

Rheumatology International
L MitevaS Stanilova

Abstract

Genetic polymorphisms in cytokine genes, which influence gene expression, may have an important impact on SLE susceptibility and severity. The aim of this study was to examine the possible influence of two functional polymorphisms in cis-regulatory regions of IL12B gene in the susceptibility and clinical symptoms of SLE in Bulgarian patients. Female SLE patients (n = 141) and 124 healthy women were included in the study. Genotyping for the IL12B A/C polymorphism in 3'UTR was performed by restriction fragment length polymorphisms PCR assay and for the IL12Bpro polymorphism by allele-specific PCR. Genotype-22 of IL12Bpro polymorphism was overrepresented among women with SLE (28 vs. 17%; OR = 1.875; 95% CI: 1.037 ÷ 3.390; P = 0.037). Respectively, a higher frequency of allele-2 was found in patients than in controls (51% vs. 40%; OR = 1.566; 95% CI: 1.110 ÷ 2.210; P = 0.011). Also, we found significantly elevated frequency of genotype-22 of IL12Bpro polymorphism among SLE patients who were simultaneously carrier of genotype-AA of SNP in 3'UTR. Women with both homozygous genotypes, genotype-AA of SNP in 3'UTR and genotype-22 of IL12Bpro polymorphism, had a 2.1-fold significantly elevated risk for SLE development. The carrying of ge...Continue Reading

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Citations

Apr 10, 2016·Scandinavian Journal of Immunology·A Paradowska-GoryckaP P Jagodzinski
Feb 22, 2017·The Journal of Immunology : Official Journal of the American Association of Immunologists·Quanju ZhaoXiaojing Ma
Jan 22, 2019·Experimental Biology and Medicine·Maddalena LarosaAndrea Doria
Nov 11, 2018·Rheumatology International·Tsvetoslav Georgiev, Rumen Stoilov
Dec 17, 2018·Acta neurologica Belgica·Lyuba MitevaSpaska Stanilova
Oct 10, 2020·Expert Opinion on Therapeutic Targets·Lauren M Mathias, William Stohl

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