Association of IL-1A and IL-1B polymorphisms with ankylosing spondylitis among the Chinese Han population: a case-control study

Abstract

Ankylosing spondylitis (AS) is a complex and chronic inflammatory disease with a high heritage. Previous study has shown that IL-1A and IL-1B involved in inflammatory reaction. But little is known about single nucleotide polymorphisms (SNPs) of IL-1A and IL-1B associated with AS. We conducted a case-control study among 267 AS cases and 297 healthy controls from China. In the genetic model analysis, we found the "T" genotype of rs3783550 was associated with decreased AS risk in the dominant model (p = 0.044) and log-additive model (p = 0.023); the "C" genotype of rs3783546 was significantly associated with decreased AS risk based in the dominant model (p = 0.044) and log-additive model (p = 0.023). Additionally, the minor allele "A" of rs2853550 may also reduce the risk of AS in dominant (p = 0.025) and log-additive model (p = 0.024). Our results suggested that the polymorphisms of IL-1A and IL-1B are associated with the AS susceptibility in the Chinese Han population. Further studies are needed to characterize the functional sequences that cause AS.

Keywords: IL-1A; IL-1B; ankylosing spondylitis (AS); case-control study; single nucleotide polymorphism (SNP).

Figure 1. LD analysis of the association between all the SNPs of the IL-1A and IL-1B gene and ankylosing spondylitis