Department of Immunology & Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.
Department of Neurology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.
Mult Scler Relat Disord. 2020 Jan;37:101422. doi: 10.1016/j.msard.2019.101422. Epub 2019 Sep 30.
Recent studies implicate B cells in multiple sclerosis (MS) pathogenesis, and consequently, several molecules participating in B cell survival and proliferation, including B-cell activating factor (BAFF), have recently been analyzed in MS patients. BAFF mediates its function through binding to three receptors; among them, its interaction with the BAFF receptor (BAFFR) is crucial in mediating its survival function. Interestingly, two common polymorphisms of the TNFRSF13C gene, encoding BAFFR, P21R (rs77874543) and H159Y (rs61756766), have been reported to affect BAFFR assembly and signaling. In order to evaluate the possible contribution of BAFFR in MS pathogenesis and/or phenotype, we analyzed both TNFRSF13C/BAFFR polymorphisms in 486 MS patients in relation to their disease severity, their disability status and the age of disease onset and duration. As control group, we used allele frequencies extracted from the Exome Aggregation Consortium (ExAC) Browser. Interestingly, we found a higher prevalence of the H159Y polymorphism in MS patients, suggesting that enhanced BAFFR-signaling might contribute to the disease pathogenesis.
最近的研究表明 B 细胞在多发性硬化症（MS）发病机制中起作用，因此，最近在 MS 患者中分析了几种参与 B 细胞存活和增殖的分子，包括 B 细胞激活因子（BAFF）。BAFF 通过与三个受体结合来发挥其功能；其中，它与 BAFF 受体（BAFFR）的相互作用对于介导其存活功能至关重要。有趣的是，编码 BAFFR 的 TNFRSF13C 基因的两个常见多态性 P21R（rs77874543）和 H159Y（rs61756766）已被报道影响 BAFFR 组装和信号转导。为了评估 BAFFR 在 MS 发病机制和/或表型中的可能作用，我们分析了 486 例 MS 患者中 TNFRSF13C/BAFFR 多态性与疾病严重程度、残疾状况以及发病年龄和病程的关系。作为对照组，我们使用从 Exome Aggregation Consortium（ExAC）Browser 提取的等位基因频率。有趣的是，我们发现 MS 患者中 H159Y 多态性的患病率较高，这表明增强的 BAFFR 信号可能有助于疾病发病机制。
