期刊
MULTIPLE SCLEROSIS JOURNAL
卷 16, 期 2, 页码 139-146出版社
SAGE PUBLICATIONS LTD
DOI: 10.1177/1352458509355071
关键词
(AAT)(n) repeat; CB(1) receptor; CNR1 gene; microsatellite; multiple sclerosis; polymorphism
资金
- Fondo de Investigaciones Sanitarias [CA06/85, CA07/410]
- Fundacion Salud 2000
- Fondo de Investigacion Sanitaria [04/1214]
- Agencia Lain Entralgo [NDG07]
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 (CB1) 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) >= (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) >=(13) CNR1 genotypes could behave as risk factors for PPMS.
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