ERAP1 variants are associated with ankylosing spondylitis in East Asian population: a new Chinese case-control study and meta-analysis of published series

作者：Chen, C.; Zhang, X.^*

来源：International Journal of Immunogenetics, 2015, 42(3): 168-173.

DOI：10.1111/iji.12196

• CLASS-I MOLECULES
• ENDOPLASMIC-RETICULUM
• DISEASE SUSCEPTIBILITY
• PATHOGENETIC ROLE
• POLYMORPHISMS
• HLA-B27
• SEVERITY
• KOREANS
• IL23R
• RISK

Endoplasmic reticulum aminopeptidase 1 (ERAP1) has been confirmed to be associated with ankylosing spondylitis (AS) in Caucasian. However, whether they are associated with AS in East Asian population remains unidentified. We investigated this relationship by a new Chinese case-control study and a meta-analysis of published series. 368 cases and 460 controls were recruited in the Chinese case-control study. Genotyping was completed using the chip-based matrix-assisted laser desorption ionization time-of-flight mass spectrometry. Allelic associations were analysed using contingency tables. In the meta-analysis, up to 2748 cases and 2774 controls from seven different studies and the new Chinese study were combined using Review Manager software version 5.1.1. Mantel-Haenszel or Inverse Variance test was used to calculate fixed or random-effects pooled ORs. In the new Chinese study, strong association with AS was observed for marker rs10050860, rs27434 and rs1065407 at P value of <0.001. Moderate association was observed for rs30187 at P value of <0.01, while no association was observed for rs27044 (P=0.37) and rs2287987 (P=0.23). The meta-analysis showed that rs27037 and rs30187 were strongly associated with AS (P<0.00001). Significant association was also observed for rs27434 (P=0.001). No association was shown for rs27044 (P=0.70). We concluded that ERAP1 variants are associated with AS in East Asian population, indicating a common pathogenic mechanism for AS in East Asians and Caucasians.

• 出版日期2015-6
• 单位天津市天津医院