title: Lack of evidence of a role of XBP1 and PRDM1 polymorphisms in Spanish patients with immunoglobulin A deficiency.
abstract: The etiology of selective immunoglobulin A deficiency (IgAD) is not yet unraveled, but genetics seem to play an important role. Defects in processes during B-cell differentiation into plasma cells could exist in these patients, turning the genes controlling these processes into interesting candidate genes for IgAD predisposition, as PRDM1 (encoding Blimp-1) and XBP1. We studied the involvement of several polymorphisms located in PRDM1 and XBP1 on IgAD susceptibility. We performed a case-control study with 331 Spanish IgAD patients and 717 healthy controls, by analyzing five single nucleotide polymorphisms (SNPs) in these genes. Genetic frequencies of the studied SNPs did not significantly differ between patients and controls, even after stratifying by the known human leukocyte antigen risk factors or clinical phenotypes. Interaction between PRDM1 and XBP1 to confer disease predisposition was not detected either. In conclusion, the polymorphisms studied in the PRDM1 and XBP1 genes do not seem to be involved in IgAD predisposition in the Spanish population.
authors.affiliation: Clinical Immunology Department, Hospital Clínico San Carlos, Madrid, Spain.
authors.forename: Nadia
authors.initials: N
authors.lastname: del Pozo
authors.forename: Raquel
authors.initials: R
authors.lastname: López-Mejías
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: Antonio
authors.initials: A
authors.lastname: Ferreira
authors.forename: Mari Cruz
authors.initials: MC
authors.lastname: García-Rodríguez
authors.forename: Emilio G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: Gumersindo
authors.initials: G
authors.lastname: Fontán
authors.forename: Elena
authors.initials: E
authors.lastname: Urcelay
authors.forename: Concepción
authors.initials: C
authors.lastname: Núñez
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease; D006801:Humans; D017098:IgA Deficiency / Q000235:genetics* / Q000276:immunology*; D020641:Polymorphism, Single Nucleotide; D000074462:Positive Regulatory Domain I-Binding Factor 1; D000071701:Regulatory Factor X Transcription Factors; D012097:Repressor Proteins / Q000235:genetics* / Q000276:immunology; D013030:Spain; D014157:Transcription Factors / Q000235:genetics* / Q000276:immunology; D000071717:X-Box Binding Protein 1
chemical_list: D004268:DNA-Binding Proteins; D000071701:Regulatory Factor X Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors; D000071717:X-Box Binding Protein 1; C000605543:XBP1 protein, human; C087042:PRDM1 protein, human; D000074462:Positive Regulatory Domain I-Binding Factor 1