Stürner Klarissa Hanja, Siembab Inessa, Schön Gerhard, Stellmann Jan-Patrick, Heidari Nika, Fehse Boris, Heesen Christoph, Eiermann Thomas H, Martin Roland, Binder Thomas Mc
Institute for Neuroimmunology and Clinical MS Research, University Medical Center Hamburg-Eppendorf, Germany.
Department of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Germany.
Mult Scler J Exp Transl Clin. 2019 Dec 9;5(4):2055217319894615. doi: 10.1177/2055217319894615. eCollection 2019 Oct-Dec.
The prevalence of multiple sclerosis is associated with the major histocompatibility complex class II DR15 haplotype HLA-DRB115:01∼HLA-DRB501:01.
To assess whether multiple sclerosis progression is associated with the main susceptibility haplotype HLA-DRB115:01∼HLA-DRB501:01.
Patients ( = 1230) and healthy controls ( = 2110) were genotyped for HLA-DRB1 and HLA-DRB5. The baseline Expanded Disability Status Scale (EDSS) score was determined and patients were followed for at least 3 years.
After follow-up of the consecutive cohort 349 patients were classified as having clinical isolated syndrome and 881 patients as having multiple sclerosis. The susceptibility allele HLA-DRB115:01 was more frequent in clinical isolated syndrome (odds ratio 1.56) and multiple sclerosis (odds ratio 3.17) compared to controls. HLA- DRB115:01 was the only enriched HLA-DRB1 allele in multiple sclerosis patients. Comparison of clinical characteristics between HLA-DRB115:01∼HLA-DRB501:01 negative and positive patients with multiple sclerosis showed that baseline EDSS score, disease duration and frequency of the category secondary progressive multiple sclerosis with relapse were increased in the HLA-DRB115:01∼HLA-DRB501:01 positive group.
The study confirmed HLA-DRB115:01 and HLA-DRB501:01 as the main susceptibility alleles and showed weak indirect evidence for a role in progression of the disease.
多发性硬化症的患病率与主要组织相容性复合体II类DR15单倍型HLA - DRB115:01∼HLA - DRB501:01相关。
评估多发性硬化症的进展是否与主要易感单倍型HLA - DRB115:01∼HLA - DRB501:01相关。
对1230例患者和2110例健康对照进行HLA - DRB1和HLA - DRB5基因分型。确定基线扩展残疾状态量表（EDSS）评分，并对患者进行至少3年的随访。
对连续队列进行随访后，349例患者被分类为临床孤立综合征，另外881例患者被分类为多发性硬化症。与对照组相比，易感等位基因HLA - DRB115:01在临床孤立综合征（优势比1.56）和多发性硬化症（优势比3.17）中更为常见。HLA - DRB115:01是多发性硬化症患者中唯一富集的HLA - DRB1等位基因。对HLA - DRB115:01∼HLA - DRB501:01阴性和阳性的多发性硬化症患者的临床特征进行比较，结果显示HLA - DRB115:01∼HLA - DRB501:01阳性组的基线EDSS评分、疾病持续时间以及继发进展型多发性硬化症伴复发类型的频率均有所增加。
该研究证实HLA - DRB115:01和HLA - DRB501:01为主要易感等位基因，并显示出其在疾病进展中起作用的微弱间接证据。
