Neurosurgery Institute, Medical School, University of Ioannina, Ioannina, Greece.
J Neurol Sci. 2011 Sep 15;308(1-2):28-31. doi: 10.1016/j.jns.2011.06.037. Epub 2011 Jul 8.
Multiple sclerosis (MS) is a demyelinating inflammatory disease of the central nervous system originated by a complex interplay of environmental and genetic factors. The association of MS with the human leukocyte antigen (HLA) class II alleles was investigated in MS patients in northwest Greece, in the geographical region of Epirus.
Our aim was to estimate the prevalence of the HLA-DRB11501, HLA-DQB10602 and HLA-DQA1*0102 alleles, consisting the most common susceptibility haplotype in North European and North American Caucasians.
We studied 126 MS patients and 93 age and sex matched healthy controls. HLA typing was performed by a polymerase chain reaction (PCR) amplification with sequence-specific primers (PCR-SSP) method.
We found that HLA-DRB11501, HLA-DQB10602 and HLA-DQA10102 alleles were significantly more frequent among patients (34% versus 11%, p=0.00015; 69% versus 51%, p=0.01; 76% versus 55%, p=0.002, respectively). HLA-DRB11501, HLA-DQB10602, HLA-DQA10102 haplotype was significantly more common among patients (p=0.00067). HLA-DRB11501 and HLA-DQB10602 alleles were more frequently detected in patients with initial symptoms from the brainstem or the cerebellum (p=0.024). No significant correlation was observed among these alleles with sex, disease clinical course, or age at onset.
This is the first study to investigate genetic susceptibility to MS in Greece. Our results are in line with previous reports in North European and North American patients.
多发性硬化症（MS）是一种中枢神经系统脱髓鞘炎症性疾病，由环境和遗传因素的复杂相互作用引起。在希腊西北部的伊庇鲁斯地区，我们研究了与 MS 相关的人类白细胞抗原（HLA）II 类等位基因。
我们的目的是评估最常见的北欧和北美白种人易感单体型 HLA-DRB11501、HLA-DQB10602 和 HLA-DQA1*0102 等位基因的流行率。
我们研究了 126 名 MS 患者和 93 名年龄和性别匹配的健康对照者。HLA 分型采用聚合酶链反应（PCR）扩增与序列特异性引物（PCR-SSP）方法。
我们发现 HLA-DRB11501、HLA-DQB10602 和 HLA-DQA10102 等位基因在患者中明显更为常见（34%比 11%，p=0.00015；69%比 51%，p=0.01；76%比 55%，p=0.002，分别）。HLA-DRB11501、HLA-DQB10602、HLA-DQA10102 单体型在患者中也更为常见（p=0.00067）。HLA-DRB11501 和 HLA-DQB10602 等位基因在以脑干或小脑首发症状的患者中更为常见（p=0.024）。这些等位基因与性别、疾病临床病程或发病年龄之间无明显相关性。
这是在希腊首次研究 MS 的遗传易感性。我们的结果与北欧和北美患者的先前报告一致。
