Genetic variants on 17q21 are associated with ankylosing spondylitis susceptibility and severity in a Chinese Han population.
OBJECTIVE
The aim of this study was to test whether orosomucoid like 3 (ORMDL3) and 17q21 variants are associated with susceptibility to ankylosing spondylitis (AS) in a Chinese population.


METHODS
A total of 753 unrelated AS patients and 1120 ethnically matched healthy controls were recruited. Seven single nucleotide polymorphisms (SNPs: rs7216389, rs12603332, rs12936231, rs9303277, rs11557467, rs1007654, and rs17608925), which were selected from chromosome 17q21 containing the genes ORMDL3, GSDMB, ZPBP2, and IKZF3, were genotyped by the Taqman SNP genotyping assay.


RESULTS
Five of the SNPs (rs7216389, rs12603332, rs12936231, rs9303277, and rs11557467) were associated with AS (all p ≤ 0.01), especially in males (all p < 0.001). Of these, rs7216389, rs12603332, rs12936231, and rs11557467 were strongly associated with severity of the disease based on radiographic findings (p < 0.05).


CONCLUSIONS
Our study confirmed that variants in chromosome 17q21 are significantly associated with AS in a Chinese Han population.
Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, Shandong University School of Medicine , Jinan, Shandong , P. R. China.
R
R
Qiu
H
H
Zhang
H
H
Zhao
J
J
Li
C
C
Guo
Y
Y
Gong
Q
Q
Liu
D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012720:Severity of Illness Index; D012737:Sex Factors; D013167:Spondylitis, Ankylosing / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*
D008565:Membrane Proteins; C464399:ORMDL3 protein, human