title: TAP2 gene polymorphism contributes to genetic susceptibility to multiple sclerosis.
abstract: MS is an autoimmune demyelinating disease that has been known to be associated with the HLA-DRB1*1501-DQA1*0102-DQB1*0602 haplotype. TAP1 and TAP2, two genes encoded within the MHC class II region between HLA-DP and -DQ loci, display genetic variability and are involved in the transport of antigenic peptides from the cytoplasm to the endoplasmic reticulum. Comparison of 116 MS patients with Caucasoid controls did not reveal any significant correlation between the previously described alleles of the TAP1 and TAP2 genes and MS. We report here an additional TAP2 dimorphism at codon 386, called I and J, corresponding to a silent mutation. An increased frequency of the J variant was observed in the patient population. The J mutation was not found in linkage disequilibrium with the HLA-DRB1*1501 allele and can be considered an additional genetic susceptibility marker of the disease.
authors.affiliation: Laboratory for Immunology and Histocompatibility, INSERM Unit 396, Saint Louis Hospital, Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Moins-Teisserenc
authors.forename: G
authors.initials: G
authors.lastname: Semana
authors.forename: M
authors.initials: M
authors.lastname: Alizadeh
authors.forename: P
authors.initials: P
authors.lastname: Loiseau
authors.forename: V
authors.initials: V
authors.lastname: Bobrynina
authors.forename: I
authors.initials: I
authors.lastname: Deschamps
authors.forename: G
authors.initials: G
authors.lastname: Edan
authors.forename: B
authors.initials: B
authors.lastname: Birebent
authors.forename: B
authors.initials: B
authors.lastname: Genetet
authors.forename: O
authors.initials: O
authors.lastname: Sabouraud
mesh_terms: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D020022:Genetic Predisposition to Disease; D006681:HLA-D Antigens / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009103:Multiple Sclerosis / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D006681:HLA-D Antigens; C073119:TAP1 protein, human; C071692:TAP2 protein, human