Uría D F
Sección de Neurología, Hospital San Agustín, Camino de Heros, s/n. E-33400 Avilés, Asturias.
Rev Neurol. 2000;31(11):1066-70.
Family and population studies have shown the existence of genetic susceptibility to have multiple sclerosis (MS). The genes of the HLA system have been the only genetic markers for this tendency to have been confirmed in multiple studies in different countries. A relation has also been found between certain HLA genes and the clinical course or paraclinical parameters of MS.
In this article we first analyze the structure, function, typing and association of illnesses with the HLA system and their relation with MS. Subsequently we review the articles published or reported on the HLA-MS association in the Spanish population.
MS is generally associated with the DR15/DQ6 haplotype (subtypes of DR2/DQ1) in the Spanish population. There may be minor ethnic differences in some regions which explain other associations found. Although the Spanish studies on the association of HLA with clinical and paraclinical factors of MS require confirmation in samples with larger number of patients, the primarily progressive forms and those with a worse prognosis tend to be associated with DR4 and the benign forms with DR2. The DRw 13 (DR6) seems to be a protective allele. The presence of DR2 may be a marker for the development of MS after an optic neuritis.
家族和人群研究表明，存在对多发性硬化症（MS）的遗传易感性。HLA系统的基因是在不同国家的多项研究中唯一得到证实的这种易感性的遗传标记。还发现某些HLA基因与MS的临床病程或副临床参数之间存在关联。
在本文中，我们首先分析HLA系统的结构、功能、分型以及与疾病的关联及其与MS的关系。随后，我们回顾了在西班牙人群中发表或报道的关于HLA与MS关联的文章。
在西班牙人群中，MS通常与DR15/DQ6单倍型（DR2/DQ1的亚型）相关。在某些地区可能存在微小的种族差异，这解释了所发现的其他关联。尽管西班牙关于HLA与MS临床和副临床因素关联的研究需要在更多患者样本中得到证实，但原发性进展型以及预后较差的类型往往与DR4相关，而良性类型与DR2相关。DRw13（DR6）似乎是一个保护性等位基因。DR2的存在可能是视神经炎后发生MS的一个标志物。
