Moins-Teisserenc H, Semana G, Alizadeh M, Loiseau P, Bobrynina V, Deschamps I, Edan G, Birebent B, Genetet B, Sabouraud O
Laboratory for Immunology and Histocompatibility, INSERM Unit 396, Saint Louis Hospital, Paris, France.
Hum Immunol. 1995 Mar;42(3):195-202. doi: 10.1016/0198-8859(94)00093-6.
MS is an autoimmune demyelinating disease that has been known to be associated with the HLA-DRB11501-DQA10102-DQB10602 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-DRB11501 allele and can be considered an additional genetic susceptibility marker of the disease.
