Lack of evidence of a role of XBP1 and PRDM1 polymorphisms in Spanish patients with immunoglobulin A deficiency.

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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 PRDM 1 (encoding Blimp-1 ) and XBP 1 . We studied the involvement of several polymorphisms located in PRDM 1 and XBP 1 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 PRDM 1 and XBP 1 to confer disease predisposition was not detected either . In conclusion , the polymorphisms studied in the PRDM 1 and XBP 1 genes do not seem to be involved in IgAD predisposition in the Spanish population .