Investigation of the Relationships Between IL-12B and IL-23 Receptor Polymorphisms with Behçet’s Disease in a Turkish Population

TL;DR

This study explores how genetic variations in IL-12B and IL-23R genes may influence the risk of Behçet’s disease in a Turkish population.

Contribution

The study identifies specific gene polymorphisms and haplotypes linked to Behçet’s disease in a Turkish cohort.

Findings

The IL-12B rs2082412 G allele and rs3213119 G allele are associated with increased Behçet’s disease risk.

The IL-23R rs7530511 TT genotype and rs10489629 GG genotype and G allele are linked to disease susceptibility.

Haplotype AAAGG (IL-12B) and GTCAC (IL-23R) are most frequent in both patients and controls.

Abstract

Behçet’s disease is a chronic, multisystem inflammatory disorder characterized by recurrent mucocutaneous and ocular manifestations, in which genetic factors, particularly cytokine gene polymorphisms, are thought to contribute to disease susceptibility. This study aimed to investigate the association of Interleukin-12B and Interleukin-23R gene polymorphisms and haplotype distributions with Behçet’s disease in Denizli, a province of Turkey. A total of 88 patients with Behçet’s disease and 133 healthy controls were genotyped for Interleukin-12B (rs3213119, rs3213120, rs3212227, rs3213113, rs2082412) and Interleukin-23R (rs1004819, rs7517847, rs7530511, rs10489629, rs10889677) polymorphisms using polymerase chain reaction–restriction fragment length polymorphism analysis. Genotype, allele, and haplotype distributions were evaluated for associations with Behçet’s disease risk and clinical manifestations. The results demonstrated that the Interleukin-12B rs2082412 G allele and rs3213119 G allele were associated with increased risk of Behçet’s disease. Additionally, the Interleukin-23R rs7530511 TT genotype and rs10489629 GG genotype and G allele were significantly associated with Behçet’s disease susceptibility. Haplotype analyses revealed AAAGG and GTCAC as the most frequent haplotypes in Interleukin-12B and Interleukin-23R loci, respectively, in both patients and controls. These findings suggest that Interleukin-12B and Interleukin-23R gene polymorphisms and haplotypes may be associated with Behçet’s disease susceptibility and clinical heterogeneity in this population.

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