Association of IL-1R2 genetic polymorphisms with the susceptibility of ankylosing spondylitis in Northern Chinese Han population.
OBJECTIVE
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.
a Department of Central Laboratory , Shandong Provincial Hospital affiliated to Shandong University , Jinan , China.
Yu
Y
Xia
b Department of Laboratory Medicine , Shandong Provincial Hospital affiliated to Shandong University , Jinan , China.
Yi-Qing
YQ
Liu
c Department of Social Medicine and Health Services Administration , School of Public Health, Shandong University , Jinan , China.
Kun
K
Chen
a Department of Central Laboratory , Shandong Provincial Hospital affiliated to Shandong University , Jinan , China.
Lai-Cheng
LC
Wang
a Department of Central Laboratory , Shandong Provincial Hospital affiliated to Shandong University , Jinan , China.
Chun-Yan
CY
Ma
a Department of Central Laboratory , Shandong Provincial Hospital affiliated to Shandong University , Jinan , China.
Yue-Ran
YR
Zhao
D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D053574:Receptors, Interleukin-1 Type II / Q000235:genetics*; D013167:Spondylitis, Ankylosing / Q000235:genetics*; D055815:Young Adult
C508592:IL1R2 protein, human; D053574:Receptors, Interleukin-1 Type II
Ankylosing spondylitis; China; Genetic polymorphism; IL-1R2