title: Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency.
abstract: Mutations in the TNFRSF13B (TACI) gene have been associated with common variable immunodeficiency, and a role in immunoglobulin A deficiency (IgAD) has also been suggested. We aimed at studying the role of several polymorphisms along this gene in IgAD susceptibility. Three TNFRSF13B mutations (C104R, A181E and R202H) and eight additional single nucleotide polymorphisms in the gene were genotyped in 338 Spanish IgAD patients and 553 ethnically matched healthy controls and tested for association. Data from parents of 114 IgAD patients were also collected and used for additional analysis. No statistically significant differences were observed after comparing patients and controls for any single nucleotide polymorphism analysed. Therefore, our work seems to discard a role of TNFRSF13B mutations in IgAD, concordantly with the most recent published studies.
authors.affiliation: Department of Clinical Immunology, Hospital Clínico San Carlos, Madrid, Spain.
authors.forename: R
authors.initials: R
authors.lastname: López-Mejías
authors.forename: N
authors.initials: N
authors.lastname: del Pozo
authors.forename: M
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: A
authors.initials: A
authors.lastname: Ferreira
authors.forename: M C
authors.initials: MC
authors.lastname: García-Rodríguez
authors.forename: E G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: G
authors.initials: G
authors.lastname: Fontán
authors.forename: E
authors.initials: E
authors.lastname: Urcelay
authors.forename: A
authors.initials: A
authors.lastname: Martínez
authors.forename: C
authors.initials: C
authors.lastname: Núñez
mesh_terms: D005787:Gene Frequency / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D017098:IgA Deficiency / Q000453:epidemiology / Q000235:genetics*; D007438:Introns; D020125:Mutation, Missense / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic; D013030:Spain / Q000453:epidemiology; D053303:Transmembrane Activator and CAML Interactor Protein / Q000235:genetics*
chemical_list: C108467:TNFRSF13B protein, human; D053303:Transmembrane Activator and CAML Interactor Protein