ERAP1基因单核苷酸多态性与中国汉族人群强直性脊柱炎的易感性关联分析

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

中文关键词:  ERAP1基因  强直性脊柱炎  单核苷酸多态性  等位基因

英文关键词:Ankylosing spondylitis, Single nucleotide polymorphism, Genetics, Endoplasmic reticulum aminopeptidase

中文摘要:

  【摘要】 目的：探讨内质网氨基肽酶1基因（endoplasmic reticulum aminopeptidase 1，ERAP1）单核苷酸多态性（SNP）（rs27434、rs27044、rs30187）与中国汉族人群强直性脊柱炎（ankylosing spondylitis，AS）的关系。方法：收集2008年1月～2012年1月在我院病房及门诊就诊的AS患者195例，203例健康体检者作为正常对照组。采集AS、正常对照组的血液样本，提取基因组DNA，设计针对ERAP1基因rs27434、rs27044、rs30187位点的PCR引物、TaqMan探针，利用TaqMan探针技术对rs27434、rs27044、rs30187位点进行PCR荧光分型。采用SPSS 16.0软件进行Hardy-Weinberg平衡、等位基因频率、基因型频率及其与AS患病风险分析。结果：所有SNP位点的基因型频率符合Hardy-Weinberg平衡定律（P＞0.05）；各位点的基因型分布在病例组和对照组间无显著统计学差异（rs27434位点，P=0.439；rs27044位点，P=0.76；rs30187位点，P=0.48）；此外，两组间的等位基因频率差异亦无统计学意义（rs27434位点，G：病例组为50.8%，对照组为48.3%；A：病例组为49.2%，对照组为51.7%。rs27044位点，C：病例组为52.8%，对照组为55.0%；G：病例组为47.2%，对照组为45.0%。rs30187位点，C：病例组为57.4%，对照组为52.0%；T：病例组为42.6%，对照组为48.0%）（P＞0.05）。结论：ERAP1基因单核苷酸多态性rs27434、rs27044、rs30187与中国汉族人群AS的易感性无关。

英文摘要:

  【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.