内质网氨肽酶-1（ERAP-1）与伊朗强直性脊柱炎易感性之间的关联。
Association between endoplasmic reticulum aminopeptidase-1 (ERAP-1) and susceptibility to ankylosing spondylitis in Iran.
作者信息
Mahmoudi Mahdi, Jamshidi Ahmad Reza, Amirzargar Ali Akbar, Farhadi Elham, Nourijelyani Keramat, Fallahi Sasan, Oraei Mona, Noori Sahar, Nicknam Mohammad Hossein
机构信息
Molecular Immunology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
Iran J Allergy Asthma Immunol. 2012 Dec;11(4):294-300.
Ankylosing spondylitis (AS) is an inflammatory arthritis, which affects mainly spine and sacroiliac joints. According to recent studies, ERAP1 is the second most common candidate gene for AS susceptibility after HLA-B27. The aim of this study was to determine the association of ERAP1 gene polymorphisms with AS in Iranian population.The study group comprised 387 Iranian AS patients and 316 healthy controls from Iran. Using Real Time PCR allelic discrimination method, we genotyped four SNPs (rs30187, rs469876, rs13167972 and rs27434) of ERAP1. We found that rs30187 and rs27434 were significantly associated with AS in Iranian population (P=6×10-5, P=7×10-3, respectively). The rs30187 T/T genotype was associated with AS compared with C/C genotype (P=1.5×10-5). The rs27434 G/G genotype was inversely associated with AS (P=5×10-3). Two specific haplotypes including: rs30187/ rs469876/ rs13167972/ rs27434 TAAA and CAGG were associated with increased and decreased risk of AS in Iranian population, respectively. These results indicated that ERAP1 SNPs and haplotypes were associated with AS in Iranian population.
强直性脊柱炎（AS）是一种炎症性关节炎，主要影响脊柱和骶髂关节。根据最近的研究，内质网氨肽酶1（ERAP1）是继人类白细胞抗原B27（HLA - B27）之后，第二常见的与AS易感性相关的候选基因。本研究的目的是确定ERAP1基因多态性与伊朗人群AS的相关性。研究组包括387名伊朗AS患者和316名来自伊朗的健康对照者。我们采用实时荧光定量聚合酶链反应（Real Time PCR）等位基因鉴别方法，对ERAP1的四个单核苷酸多态性（SNP，分别为rs30187、rs469876、rs13167972和rs27434）进行基因分型。我们发现，rs30187和rs27434在伊朗人群中与AS显著相关（P分别为6×10⁻⁵和7×10⁻³）。与C/C基因型相比，rs30187的T/T基因型与AS相关（P = 1.5×10⁻⁵）。rs27434的G/G基因型与AS呈负相关（P = 5×10⁻³）。两种特定的单倍型，即rs30187/rs469876/rs13167972/rs27434的TAAA和CAGG，分别与伊朗人群中AS风险的增加和降低相关。这些结果表明，ERAP1的SNP和单倍型与伊朗人群的AS相关。
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