Alonso Veronica R, de Jesus Flores Rivera Jose, Garci Yamel R, Granados Julio, Sanchez Thalia, Mena-Hernandez Lourdes, Corona Teresa
Neurodegenerative Diseases Department, Instituto Nacional de Neurologia y Neurocirugia Manuel Velasco Suarez, Mexico City, Mexico.
Transplant Department, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico.
Cent Nerv Syst Agents Med Chem. 2018 Jan 26;18(1):4-7. doi: 10.2174/1871524916666160229115047.
Neuromyelitis optica (NMO) and Multiple Sclerosis (MS) have been reported in different populations. NMO is more frequent in non-Caucasians, and clinical phenotype differences between populations are likely influenced by genetic susceptibility. In Brazil, it has been reported that NMO patients have a mainly European ancestry background. Like other autoimmune diseases, NMO has a multifactorial origin (i.e., genetics, environmental and infectious factors). Regarding the genetics of NMO, epidemiological findings suggest that a polygenic background has an important role in the development of this type of disease. In this context, various genes have been studied, such as those involved in the synthesis of the T cell beta chain receptor, the VH2-5 gene, myelin basic protein, the CTLA-4 gene, and the interleukin-1 gene.
We performed a study with the main objective of identifying candidate genes involved in the susceptibility to develop NMO in a Mexican population.
We included 35 patients with an NMO diagnosis according to the Wingerchuk 2006 criteria. The mean age of the patients was 43.3 years old (20-67), and 80 percent of the patients were women. The presence of HLA-DRB103 and HLA-DRB110 alleles were more frequent in NMO patients than in controls (n=198; p=0.03 and 0.005, respectively).
There were no differences in the other alleles that have been described in MS subjects, such as HLA-DRB104, HLA-DRB108 and HLA-DRB1*13. These findings may support the hypothesis that implicated immune-genetics as a key factor in development of this type of disease.
视神经脊髓炎（NMO）和多发性硬化症（MS）在不同人群中均有报道。NMO在非白种人中更为常见，不同人群之间的临床表型差异可能受遗传易感性影响。在巴西，有报道称NMO患者主要具有欧洲血统背景。与其他自身免疫性疾病一样，NMO具有多因素起源（即遗传、环境和感染因素）。关于NMO的遗传学，流行病学研究结果表明多基因背景在这类疾病的发展中起重要作用。在此背景下，人们研究了多种基因，如参与T细胞β链受体合成的基因、VH2 - 5基因、髓鞘碱性蛋白、CTLA - 4基因和白细胞介素 - 1基因。
我们开展了一项研究，主要目的是在墨西哥人群中鉴定与NMO易感性相关的候选基因。
我们纳入了35例根据2006年Wingerchuk标准诊断为NMO的患者。患者的平均年龄为43.3岁（20 - 67岁），80%的患者为女性。NMO患者中HLA - DRB103和HLA - DRB110等位基因的出现频率高于对照组（n = 198；p分别为0.03和0.005）。
在MS患者中描述的其他等位基因，如HLA - DRB104、HLA - DRB108和HLA - DRB1*13，没有差异。这些发现可能支持这样一种假设，即免疫遗传学是这类疾病发展的关键因素。
