HLA - B60与HLA - B27之间的相互作用作为台湾人群强直性脊柱炎更好的预测指标
Interaction between HLA-B60 and HLA-B27 as a Better Predictor of Ankylosing Spondylitis in a Taiwanese Population.
作者信息
Wei James Cheng-Chung, Sung-Ching Henry Wong, Hsu Yu-Wen, Wen Ya-Feng, Wang Wen-Chang, Wong Ruey-Hong, Lu Hsing-Fang, Gaalen Floris A van, Chang Wei-Chiao
机构信息
Division of Allergy, Immunology and Rheumatology, Department of Medicine, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan; Institute of Intergrative Medicine, China Medical University, Taichung, Taiwan.
Master Program for Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei, Taiwan.
出版信息
PLoS One. 2015 Oct 15;10(10):e0137189. doi: 10.1371/journal.pone.0137189. eCollection 2015.
OBJECTIVE
Ankylosing spondylitis (AS) is a form of chronic inflammatory spondyloarthritis (SpA) that causes pain and stiffness in spines or joints. Human leukocyte antigen B27 (HLA-B27) and B60 (HLA-B60) have been reported as major genetic risk factors of AS. In addition, rs13202464, located on major histocompatibility complex (MHC) region, showed high sensitivity (98.7%) and specificity (98.0%) for HLA-B27.
DESIGN
The aim of our study is to test whether the interaction between HLA-B60 and HLA-B27 (rs13202464) can serve as a better predictor of AS. We have genotyped HLA-B60 and rs13202464 among 471 patients with AS and 557 healthy subjects. Combined risk factors were investigated to test the biological interaction.
RESULTS
Our results indicated that the relative risk (RR) for HLA-B27+/HLA-B60- was 152 (95% CI 91 to 255) and it increased to 201 (95% CI 85 to 475) in HLA-B27+/HLA-B60+ patients (with HLA-B27-/HLA-B60- as reference). Combinational analysis of two risk factors (HLA-B27+/HLA-B60+) showed a relative excess risk due to interaction (RERI) of 46.79 (95% CI: -117.58 to 211.16), attributable proportion (AP) of 0.23 (95% CI: -0.41 to 0.88) and a synergy index (S) of 1.31 (95% CI: 0.56 to 3.04).
CONCLUSION
In conclusion, genetic interaction analysis revealed that the interaction between HLA-B60 and HLA-B27 is a better marker for the risk of AS susceptibility in a Taiwanese population.
目的
强直性脊柱炎（AS）是一种慢性炎症性脊柱关节炎（SpA），会导致脊柱或关节疼痛和僵硬。人类白细胞抗原B27（HLA - B27）和B60（HLA - B60）已被报道为AS的主要遗传风险因素。此外，位于主要组织相容性复合体（MHC）区域的rs13202464对HLA - B27表现出高敏感性（98.7%）和特异性（98.0%）。
设计
我们研究的目的是测试HLA - B60与HLA - B27（rs13202464）之间的相互作用是否能作为AS更好的预测指标。我们对471例AS患者和557名健康受试者进行了HLA - B60和rs13202464基因分型。研究联合风险因素以测试生物学相互作用。
结果
我们的结果表明，以HLA - B27 - /HLA - B60 - 为参照，HLA - B27 + /HLA - B60 - 的相对风险（RR）为152（95%可信区间91至255），而在HLA - B27 + /HLA - B60 + 患者中该风险增加至201（95%可信区间85至475）。两个风险因素（HLA - B27 + /HLA - B60 +）的联合分析显示，由于相互作用导致的相对超额风险（RERI）为46.79（95%可信区间： - 117.58至211.16），归因比例（AP）为0.23（95%可信区间： - 0.41至0.88），协同指数（S）为1.31（95%可信区间：0.56至3.04）。
结论
总之，基因相互作用分析表明，在台湾人群中，HLA - B60与HLA - B27之间的相互作用是AS易感性风险的更好标志物。
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