Dardiotis Efthimios, Panayiotou Elena, Siokas Vasileios, Aloizou Athina-Maria, Christodoulou Kyproula, Hadjisavvas Andreas, Pantzaris Marios, Grigoriadis Nikolaos, Hadjigeorgiou Georgios M, Kyriakides Theodoros
Cyprus Institute of Neurology and Genetics (E.D., E.P., K.C., A.H., M.P., T.K.), Nicosia; Department of Neurology, Laboratory of Neurogenetics (E.D., V.S., A.-M.A.), University of Thessaly, University Hospital of Larissa; Cyprus School of Molecular Medicine (E.P., K.C., A.H., T.K.), Nicosia; 2nd Department of Neurology (N.G.), AHEPA University Hospital, Aristotle University of Thessaloniki; and Department of Neurology (G.M.H.), Medical School, University of Cyprus, Nicosia, Greece.
Neurol Genet. 2019 Jan 16;5(1):e304. doi: 10.1212/NXG.0000000000000304. eCollection 2019 Feb.
To examine the effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the development of MS.
A total of 389 Greek MS cases and 336 controls were recruited by 3 MS centers in Cyprus and Greece. In total, 147 tagging single nucleotide polymorphisms across 9 genes encoding for P-selectin (), integrins (, , and ), adhesion molecules (, , and , fibronectin 1 (), and osteopontin () were genotyped. The clinical end point of the study was diagnosis of MS according to the 2005 revised McDonald criteria. Permutation analysis was used for adjusting for multiple comparisons.
Overall, 21 variants across , , , , , , , and genes were each associated with MS ( < 0.05). The most significant were rs3917779 and rs2076074 (), rs6721763 (), and rs1250258 (), all with a permutation value of less than 1e-004.
The current study provides preliminary evidence that variants across genes encoding adhesion molecules, responsible for lymphocyte adhesion and trafficking within the CNS, are implicated in the risk of developing MS.
研究编码与白细胞向中枢神经系统（CNS）迁移相关分子的基因变异对多发性硬化症（MS）发病的影响。
塞浦路斯和希腊的3个MS中心招募了总共389例希腊MS患者和336名对照。总共对9个基因中的147个标签单核苷酸多态性进行了基因分型，这些基因编码P-选择素（）、整合素（、、和）、黏附分子（、、和）、纤连蛋白1（）和骨桥蛋白（）。该研究的临床终点是根据2005年修订的麦克唐纳标准诊断MS。采用置换分析对多重比较进行校正。
总体而言，、、、、、、和基因中的21个变异各自与MS相关（<0.05）。最显著的是rs3917779和rs2076074（）、rs6721763（）和rs1250258（），所有这些变异的置换值均小于1e - 004。
当前研究提供了初步证据，表明编码负责淋巴细胞在CNS内黏附和迁移的黏附分子的基因变异与发生MS的风险有关。
