Neuroinmunology Unit, Hospital Universitario Puerta de Hierro, Majadahonda, Spain.
Mult Scler. 2010 Feb;16(2):139-46. doi: 10.1177/1352458509355071. Epub 2009 Dec 9.
Different studies point to the implication of the endocannabinoid system in multiple sclerosis (MS) and animal models of MS. The purpose of this study was to evaluate a possible association of MS with polymorphic markers at the CNR1 gene, encoding the cannabinoid 1 (CB(1)) receptor. We have performed a genetic analysis of an AAT repeat microsatellite localized in the downstream region of the CNR1 gene, in two case-control groups of MS patients and healthy controls (HC) from Spain (Madrid and Bilbao). MS patients with primary progressive MS (PPMS) had more commonly long ((AAT) > or = (13)) alleles and genotypes with a significant difference for genotype 7/8 in Madrid (p = 0.043) and in the sum of both groups (p = 0.016); short alleles were less frequently found in PPMS with a significant difference for allele 5 in the analysis of both groups together (p = 0.039). In patients with relapsing MS, no consistent differences in allele and genotype distribution were found. Disease severity and progression was unrelated to AAT repeat variations. In conclusion, long (AAT) > or = (13) CNR1 genotypes could behave as risk factors for PPMS.
不同的研究表明，内源性大麻素系统在多发性硬化症（MS）和 MS 的动物模型中具有重要作用。本研究旨在评估 MS 与位于大麻素 1（CB1）受体编码基因 CNR1 上的多态性标记之间可能存在的关联。我们对位于 CNR1 基因下游区域的 AAT 重复微卫星进行了遗传分析，该微卫星位于西班牙马德里和毕尔巴鄂的两个 MS 患者和健康对照（HC）的病例对照组中。原发性进展型 MS（PPMS）患者更常见长（AAT）≥13 的等位基因和基因型，在马德里（p = 0.043）和两个组的总和（p = 0.016）中基因型 7/8 具有显著差异；在两个组的分析中，短等位基因在 PPMS 中较少见（p = 0.039）。在复发性 MS 患者中，未发现等位基因和基因型分布存在一致差异。疾病严重程度和进展与 AAT 重复变异无关。总之，长（AAT）≥13 的 CNR1 基因型可能是 PPMS 的危险因素。
