Haplotype association of IL‐8 gene with Behcet’s disease

Abstract

Interleukin-8 (IL-8), a CXC chemokine that recruits and activates inflammatory cells, plays a critical role in the pathogenesis of Behcet's disease (BD). To investigate the association of the genetic polymorphism of IL-8 and BD, we genotyped IL-8 -845 T/C, -738 T/A, -353 A/T, -251 A/T, +293 G/T, +678 T/C and receptors CXCR-1 +2607 G/C and CXCR-2 +785 C/T polymorphisms in 119 Korean patients with BD and 119 age- and sex-matched healthy blood donors. Then, single nucleotide polymorphisms (SNPs) and haplotypes were analyzed between patients and controls. There were no SNPs associated with BD. However, the frequency of haplotype TAT inferred from SNPs, IL-8 -353 A/T, -251 A/T and +678 T/C, was significantly higher in patients with BD than controls (5.9 vs 0.0%, P = 0.0001), as was haplotype ATC (6.7 vs 0.0%, P < 0.0001). The haplotype difference was still valid in human leukocyte antigen-B51-negative subjects. In conclusion, we found a significant difference in the distribution of IL-8 gene haplotypes between patients with BD and healthy controls. These results suggest that the genetic polymorphisms of proinflammatory chemokine IL-8 can contribute to the pathogenesis of BD.

Association of Interleukin-8 Gene Polymorphisms and Haplotypes with Oral Lichen Planus in a Chinese Population

“…The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to genotype the IL-8 −845 T/C, −738 T/A, −251 A/T and +781 C/T polymorphisms in patients and controls, as described elsewhere [22,27]. All the subjects' genotypes were analyzed blinded.…”

“…Recently, relationship between IL-8 SNPs and haplotypes and some autoimmune diseases has also been reported [22][23][24]. As OLP is a kind of disease which correlate with autoimmune reaction [1][2], we hypothesized that SNPs and haplotypes of IL-8 gene might be associated with the susceptibility of individuals to OLP, as well as the progression and prognosis of this disease.…”

Gene Polymorphisms and Serum Levels of Pro- and Anti-Inflammatory Markers in Dengue Viral Infections

“…There are more than 70 IL-8 gene polymorphisms known to be associated with several pathologies (44,46,47,50,78), but as yet, there are no studies associating the -353 A/T polymorphism in IL-8 with dengue, despite the evidence of its involvement in the pathogenesis of infection (7,9,16,40,62). The A allele of the -353 A/T polymorphism in IL-8 has been correlated with higher IL-8 production in comparison with the T allele (34), but no study has been able to show associations when analyzing this polymorphism individually, suggesting that the combined effect of several IL-8 polymorphisms is necessary (45,47,50).…”

Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome‐wide association study

“…These findings indicate that additional genetic risks remain to be discovered. Many approaches to searching for genetic risk have been used to identify additional risk loci for BD, such as genome‐wide linkage scans in multiplex families (14) and candidate gene association studies (15–33). Recently, genome‐wide association studies (GWAS) for BD have identified several risk loci at IL23R – IL12RB2 , IL10 , KIAA1529 , CPVL , LOC100129342 , UBASH3B , and UBAC2 in Turkish and Japanese patients (34–36).…”