title: The cannabinoid receptor 1 gene (CNR1) and multiple sclerosis: an association study in two case-control groups from Spain.
abstract: 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.
authors.affiliation: Neuroinmunology Unit, Hospital Universitario Puerta de Hierro, Majadahonda, Spain.
authors.forename: E
authors.initials: E
authors.lastname: Ramil
authors.forename: A J
authors.initials: AJ
authors.lastname: Sánchez
authors.forename: P
authors.initials: P
authors.lastname: González-Pérez
authors.forename: A
authors.initials: A
authors.lastname: Rodríguez-Antigüedad
authors.forename: N
authors.initials: N
authors.lastname: Gómez-Lozano
authors.forename: P
authors.initials: P
authors.lastname: Ortiz
authors.forename: R
authors.initials: R
authors.lastname: Arroyo
authors.forename: V
authors.initials: V
authors.lastname: De las Heras
authors.forename: C
authors.initials: C
authors.lastname: Vilches
authors.forename: A
authors.initials: A
authors.lastname: García-Merino
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D020528:Multiple Sclerosis, Chronic Progressive / Q000175:diagnosis / Q000235:genetics*; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000175:diagnosis / Q000235:genetics*; D016017:Odds Ratio; D010641:Phenotype; D011110:Polymorphism, Genetic; D043884:Receptor, Cannabinoid, CB1 / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index; D013030:Spain
chemical_list: D043884:Receptor, Cannabinoid, CB1