The association between endoplasmic reticulum aminopeptidase 1 gene polymorphisms and susceptibility to ankylosing spondylitis in Chinese Han population

English Keywords:Ankylosing spondylitis, Single nucleotide polymorphism, Genetics, Endoplasmic reticulum aminopeptidase

English Abstract:

  【Abstract】 Objectives: To investigate the association between endoplasmic reticulum aminopeptidase 1(ERAP1) gene polymorphisms and susceptibility to ankylosing spondylitis(AS) in Chinese Han population. Methods: 195 AS patients and 203 normal controls for healthy check from January 2008 to January 2012 were recruited in this study. Peripheral blood samples were collected from all the subjects and genomic DNA was then extracted. PCR primers and TaqMan probes were designed; and three SNPs, rs27434, rs27044 and rs30187 in ERAP1 gene were genotyped in both AS patients and controls by TaqMan probe method. The Hardy-Weinberg equilibrium test was performed, and the differences of the distributions of genotype and allele were compared between AS patients and healthy controls by software SPSS 16.0. Results: Hardy-Weinberg equilibrium was evident for the genotype distributions of all the 3 SNPs(P＞0.05). There was no significant difference of the genotype distributions in 3 SNPs between AS and healthy control(for rs27434, P=0.439; for rs27044, P=0.76; for rs30187, P=0.48); similarly, no remarkable difference of the allele distributions was detected(for rs27434, G: 50.8% in cases vs. 48.3% in controls, C: 49.2% in cases vs. 51.7% in controls; for rs27044, C: 52.8% in cases vs. 55.0% in controls, G: 47.2% in cases vs. 45.0% in controls; for rs30187, C: 57.4% in cases vs. 52.0% in controls, T: 42.6% in cases vs. 48.0% in controls(P>0.05). Conclusions: The ERAP1 gene polymorphisms (rs27434, rs27044 and rs30187) may not be associated with the susceptibility to AS in Chinese Han population.