Kuranov Alexandr Borisovich, Kötter Ina, Henes Jörg Christoph, Abisheva Saule Tleubaevna, Steiert Ingeborg, Riewerts Florian, Momynaliev Kuvat Temirgalievich, Müller Claudia Anna
Arthritis Res Ther. 2014 May 26;16(3):R116. doi: 10.1186/ar4569.
Behçet's disease (BD) as systemic vasculitis of unknown etiology is associated with HLA-B51 in European and Asian populations. HLA-A26 was claimed as an additional BD susceptibility marker in Japanese and Greek patients. This study was performed to test for HLA associations in HLA-B*51 negative German and Turkish BD populations.
In total, 65 German and 46 Turkish patients lacking HLA-B51 were analyzed in comparison to healthy HLA-B51 negative Germans (n = 1500) and Turks (n = 130). HLA-A/B genotypes were determined by SSOP. P-values with correction for multiple testing (p(c)), χ2-test and odds ratio (OR) were used for statistical evaluation.
HLA-A26 was significantly more frequent in HLA-B51- German patients [p(c) = 0.0076, OR = 3.23, 95% CI 1.63 to 6.39] than in respective controls. HLA-A26 was also elevated in a smaller group of Turkish patients versus the controls. Significant association of HLA-Bw4 with isoleucine at amino-acid position 80 (HLA-Bw4-80I) was found in the HLA-B51(-) German cohort of BD patients [p(c) = 0.0042, OR = 2.35, 95% CI 1.41 to 3.93) and in the Turkish patients in comparison to the respective controls [p = 0.025, OR = 2.17, 95% CI 1.09 to 4.31]. On the contrary, HLA-Bw4-80 T was reduced in both HLA-B*51(-) BD patient cohorts.
The study shows a significant association of HLA-Bw4-80I present on HLA-B51 as well as on other B-locus molecules with BD. This indicates that distinctive Bw4 epitopes on HLA-B locus molecules could play a role in BD pathogenesis. The study also indicates an association with HLA-A26 in German and Turkish BD patients as a genetic risk factor independent of HLA-B*51.
白塞病（BD）作为一种病因不明的系统性血管炎，在欧洲和亚洲人群中与HLA - B51相关。在日本和希腊患者中，HLA - A26被认为是另一种BD易感性标志物。本研究旨在检测HLA - B*51阴性的德国和土耳其BD人群中的HLA相关性。
总共分析了65名德国和46名土耳其缺乏HLA - B51的患者，并与健康的HLA - B51阴性德国人（n = 1500）和土耳其人（n = 130）进行比较。通过序列特异性寡核苷酸探针（SSOP）确定HLA - A/B基因型。采用多重检验校正的P值（p(c)）、卡方检验和比值比（OR）进行统计学评估。
HLA - A26在HLA - B51阴性的德国患者中显著更常见[p(c)=0.0076，OR = 3.23，95%可信区间1.63至6.39]，高于相应对照组。在一小部分土耳其患者中，HLA - A26相对于对照组也有所升高。在BD患者的HLA - B51（-）德国队列中发现HLA - Bw4与80位氨基酸的异亮氨酸（HLA - Bw4 - 80I）有显著关联[p(c)=0.0042，OR = 2.35，95%可信区间1.41至3.93]，与土耳其患者相比，相应对照组也有此关联[p = 0.025，OR = 2.17，95%可信区间1.09至4.31]。相反，在两个HLA - B*51（-）BD患者队列中，HLA - Bw4 - 80T均减少。
该研究表明，HLA - B51以及其他B位点分子上存在的HLA - Bw4 - 80I与BD有显著关联。这表明HLA - B位点分子上独特的Bw4表位可能在BD发病机制中起作用。该研究还表明，德国和土耳其BD患者中与HLA - A26相关，这是一个独立于HLA - B*51的遗传风险因素。
