Article
Epistatic interaction of ERAP1 and HLA-B in Behçet disease: a replication study in the Spanish population.
PloS one - 1 Jan 2014
Conde-Jaldón Marta, Montes-Cano Marco Antonio, García-Lozano José Raul, Ortiz-Fernández Lourdes, Ortego-Centeno Norberto, González-León Rocío, Espinosa Gerard, Graña-Gil Genaro, Sánchez-Bursón Juan, González-Gay Miguel Angel, Barnosi-Marín Ana Celia, Solans Roser, Fanlo Patricia, Carballeira Mónica Rodríguez, Camps Teresa, Castañeda Santos, Martín Javier, González-Escribano María Francisca
Abstract excerpt
Behçet's disease (BD) is a multifactorial disorder associated with the HLA region. Recently, the ERAP1 gene has been proposed as a susceptibility locus with a recessive model and with epistatic interaction with HLA-B51. ERAP1 trims peptides in the endoplasmic reticulum to optimize their length for MHC-I binding. Polymorphisms in this gene have been related with the susceptibility to other immune-mediated diseases...
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