Association of IL-1R2 genetic polymorphisms with the susceptibility of ankylosing spondylitis in Northern Chinese Han population

Abstract

Objectives. Previous Genome-wide association studies (GWAS) have demonstrated Interleukin-1 receptor 2 (IL-1R2) was strongly associated with susceptibility to ankylosing spondylitis (AS). The aim of this study was to replicate the association of IL-1R2 single-nucleotide polymorphisms (SNPs) with AS in the northern Han Chinese.

Methods. A total of 490 AS patients and 580 matched healthy controls were enrolled in our study. Six tagSNPs in IL-1R2: rs4851526, rs4851527, rs2302589, rs2072476, rs2072472, and rs2310173 were selected and genotyped by Taqman SNP genotyping method. The differences of allele and genotype frequencies were analyzed by use of PLINK 1.07.

Results. Logistic regression analysis showed that one tagSNP rs2302589 in IL-1R2 was significantly associated with AS susceptibility (OR 0.77, 95% CI = 0.64–0.92, P = 0.005). However, no significant association was observed on the other tagSNPs for AS risk. The haplotype analysis further showed that the haplotype “GCGCGG” of IL-1R2 was also associated with the increased risk of AS (OR 1.362, P = 0.0207).

Conclusions. This is the first detection that the genetic variation rs2302589 in IL-1R2 gene was associated with AS in Northern Han Chinese. This result confirmed that IL-1R2 may be genetic biomarker for susceptibility to AS.

Keywords:

• Ankylosing spondylitis
• China
• Genetic polymorphism
• IL-1R2

Acknowledgments

We would like to thank all the participants recruited for this study. This study was supported by grants from the National Natural Science Foundation of China (81001338) and Shandong Provincial Natural Science Foundation of China (ZR2011HM019 and ZR2013HM068).

Conflict of interests

None.