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本研究探讨内质网氨基肽酶-1基因(endoplasmic reticulum aminopeptidase 1,ERAP1)单核苷酸多态性与闽南地区汉族人群强直性脊柱炎(ankylosing spondylitis,AS)的相关性。选取经纽约诊断标准确诊的闽南地区汉族149例强直性脊柱炎患者(AS组)与150例健康人群(对照组),应用SNaPshot单碱基延伸反应测定所有研究对象ERAP1的10个SNP位点(rs26653、rs7711564、rs27980、rs30187、rs2287987、rs10050860、rs27529、rs17482078、rs27038、rs27044)基因型。结果显示,ERAP1的3个SNP位点rs27044(OR=1.324,P=0.001)、rs30187(OR=1.224,P=0.011)、rs27980(OR=1.220,P=0.005)位点基因型在闽南地区汉族人群AS组和正常对照组之间比较具有显著性差异(P<0.05),其罕见等位基因是AS发病的危险因素,rs26653、rs7711564、rs2287987、rs10050860、rs27529、rs17482078、rs27038等SNP位点两组之间比较无统计学差异(P>0.05)。本研究表明ERAP1基因单核苷酸多态性rs30187、rs27044、rs27980与闽南地区汉族人群强直性脊柱炎相关,进一步证实了该rs27044位点的等位基因(G)、rs30187位点的等位基因(T)、rs27980位点的等位基因(C)基因是强直性脊柱炎的易感基因。
This study was aimed to investigate the relationship between the endoplasmic reticulum aminopeptidase 1 (ERAP1) single nucleotide polymorphism and ankylosing spondylitis (AS) in Han population in southern Fujian. A total of 149 ankylosing spondylitis patients (AS group) and 150 healthy subjects (control group) from Han nationality confirmed by New York diagnostic criteria were enrolled in this study. Ten SNPs of ERAP1 were determined by SNaPshot single base extension reaction rs26653, rs7711564, rs27980, rs30187, rs2287987, rs10050860, rs27529, rs17482078, rs27038, rs27044) genotypes. The results showed that the genotypes of ERAP1 SNP rs27044 (OR = 1.324, P = 0.001), rs30187 (OR = 1.224, P = 0.011) and rs27980 There was a significant difference between AS group and normal control group (P <0.05). The rare allele was a risk factor for AS. Two SNPs, rs26653, rs7711564, rs2287987, rs10050860, rs27529, rs17482078 and rs27038, There was no significant difference between groups (P> 0.05). This study showed that single nucleotide polymorphisms rs30187, rs27044, rs27980 of ERAP1 gene were associated with ankylosing spondylitis in Han population of southern Fujian province, further confirming alleles (G) and rs30187 alleles of rs27044 locus (T), rs27980 allele (C) gene is an ankylosing spondylitis susceptibility genes.