METHODS: 100 POMS patients fulfilling the IPMSSG criteria, 168 Adult-Onset MS (AOMS) patients, and 246 Healthy Controls (HCs) have been enrolled. HLA genotyping was performed with a standard low-resolution sequence-specific oligonucleotide (SSO) technique.
RESULTS: POMS patients display a significantly increased HLA-DRB1*03 frequency compared to both HCs [24% vs. 12.6%, OR [95%CI]: 2.19 (1.21-3.97), p=0.016) and AOMS (24% vs. 13.1%, OR [95%CI]: 2.1 (1.1-3.98), p=0.034] respectively. HLA-DRB1*03-carriers display reduced risk for brainstem lesion development (OR [CI 95%]:0.19 (0.06-0.65), p=0.011). A significantly lower frequency of HLA-DRB1*07 (4% vs 13.4%, OR (95% CI): 0.27 (0.09-0.78), p= 0.017) and HLA-DRB1*11 (37% vs 52%, OR [95% CI]: 0.54 (0.34-0.87), p= 0.016) was observed in POMS compared to HCs.
CONCLUSIONS: The HLA-DRB1*03 allele was associated with a higher risk for POMS, replicating our previous findings, and with a lower risk for brainstem lesion development, a common clinical and neuroimaging feature in POMS, while HLA-DRB1*07 and HLA-DRB1*11 display a protective role. These findings expand the existing knowledge of HLA associations and POMS.
方法:100名符合IPMSSG标准的POMS患者,168名成人发作的MS(AOMS)患者,并纳入了246名健康对照(HC)。用标准低分辨率序列特异性寡核苷酸(SSO)技术进行HLA基因分型。
结果:与两种HC相比,POMS患者的HLA-DRB1*03频率显着增加[24%vs.12.6%,或[95CI]:2.19(1.21-3.97),p=0.016)和AOMS(24%与13.1%,或[95CI]:2.1(1.1-3.98),分别为p=0.034]。HLA-DRB1*03携带者显示脑干病变发展的风险降低(OR[CI95%]:0.19(0.06-0.65),p=0.011)。HLA-DRB1*07的频率明显降低(4%vs13.4%,OR(95%CI):0.27(0.09-0.78),p=0.017)和HLA-DRB1*11(37%对52%,或[95%CI]:0.54(0.34-0.87),与HC相比,在POMS中观察到p=0.016)。
结论:HLA-DRB1*03等位基因与POMS的高风险相关,复制我们之前的发现,脑干病变发展的风险较低,POMS中常见的临床和神经影像学特征,而HLA-DRB1*07和HLA-DRB1*11显示保护作用。这些发现扩展了HLA关联和POMS的现有知识。