Polymorphisms of genes encoding interleukin-4 and its receptor in Iranian patients with juvenile idiopathic arthritis.

Abstract

As cytokines, including interleukin-4 (IL-4), seem to have a pivotal role in the pathogenesis of juvenile idiopathic arthritis (JIA), this study is aimed at investigating of association of polymorphisms in IL-4 and IL-4 receptor α (IL-4RA) genes with susceptibility to JIA. A case-control study was conducted on 53 patients with JIA and 139 healthy unrelated controls. Single nucleotide polymorphisms of IL-4 gene at positions -1098, -590, and -33, as well as IL-4RA gene at position +1902 were genotyped using polymerase chain reaction with sequence-specific primers method and compared between patients and healthy individuals. At the allelic level, C allele at IL-4 -33 was found to be more frequent in patients compared to control (P value <0.01). At the genotypic level, CC genotype at IL-4 -590 (P value <0.01), together with CC and TT genotypes at IL-4 -33 (P value <0.01), were significantly higher in patients with JIA, while TC genotypes at IL-4 -590 and -33 positions were found to be lower in case group (P value <0.01). At the haplotypic level, IL-4 (positions -1098, -509, -33) TTC, GCC, and TTT haplotypes were significantly lower than controls (P value <0.01, P value = 0.03, and P value = 0.04, respectively). Although, TCC haplotype at the same positions was found to be higher in patients (P value <0.01). Polymorphic site of +1902 IL-4RA gene did not differ between cases and controls. Polymorphisms in promoter region of IL-4 but not IL-4RA genes confer susceptibility to JIA and may predispose individuals to adaptive immune responses.

• Authors: Vahid Ziaee, Arezou Rezaei, Sara Harsini, Marzieh Maddah, Samaneh Zoghi, Maryam Sadr, Mohammad Hassan Moradinejad, Nima Rezaei
• Journal: Clinical rheumatology (Clin Rheumatol) Vol. 35 Issue 8 Pg. 1943-1948 (Aug 2016) ISSN: 1434-9949 [Electronic] Germany
• PMID: 26951255 (Publication Type: Journal Article)

Chemical References

• IL4 protein, human
• IL4R protein, human
• Interleukin-4 Receptor alpha Subunit
• Interleukin-4

Topics

• Adolescent
• Alleles
• Arthritis, Juvenile (genetics)
• Case-Control Studies
• Child
• Child, Preschool
• Female
• Gene Frequency
• Genetic Predisposition to Disease
• Haplotypes
• Humans
• Interleukin-4 (genetics)
• Interleukin-4 Receptor alpha Subunit (genetics)
• Iran
• Male
• Polymorphism, Single Nucleotide