在澳大利亚西部，HLA-DRB1 等位基因相互作用对多发性硬化症发病年龄的修饰作用。
Modifying effects of HLA-DRB1 allele interactions on age at onset of multiple sclerosis in Western Australia.
机构信息
Centre of Neuromuscular and Neurological Disorders, University of Western Australia, Department of Neurology, Sir Charles Gairdner Hospital, Queen Elizabeth Medical Centre, Perth, Western Australia.
出版信息
Mult Scler. 2010 Jan;16(1):15-20. doi: 10.1177/1352458509350312. Epub 2009 Dec 7.
The contribution of genetic factors to the age at onset in multiple sclerosis is poorly understood. Our objective was to investigate the disease modifying effects of HLA-DRB1 alleles and allele interactions on age at onset of multiple sclerosis. High-resolution four-digit HLA-DRB1 genotyping was performed in a cohort of 461 multiple sclerosis patients from the Perth Demyelinating Diseases Database. Carriage of the HLA-DRB11501 risk allele was not significantly associated with age at onset but HLA-DRB10801 was associated with a later onset of the disease. The HLA-DRB10401 allele was associated with a reduced age at onset when combined with DRB11501 but may delay age at onset when combined with DRB1*0801. These findings indicate that epistatic interactions at the HLA-DRB1 locus have significant modifying effects on age at onset of multiple sclerosis and demonstrate the value of high-resolution genotyping in detecting such associations.
遗传因素对多发性硬化症发病年龄的影响知之甚少。我们的目的是研究 HLA-DRB1 等位基因及其相互作用对多发性硬化症发病年龄的影响。在珀斯脱髓鞘疾病数据库的 461 名多发性硬化症患者队列中进行了高分辨率四位数字 HLA-DRB1 基因分型。HLA-DRB11501 风险等位基因的携带与发病年龄无显著相关性，但 HLA-DRB10801 与疾病的发病较晚相关。HLA-DRB10401 等位基因与 DRB11501 联合时发病年龄较早，但与 DRB1*0801 联合时发病年龄可能延迟。这些发现表明 HLA-DRB1 基因座上的上位性相互作用对多发性硬化症的发病年龄有显著的修饰作用，并证明了高分辨率基因分型在检测这种相关性方面的价值。
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