Interleukin-6 gene variation in Spanish patients with immunoglobulin-A deficiency

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• 作者：Raquel Ló ; pez-Mej&#xed ; as ; Alfonso Mart&#xed ; nez ; Nadia del Pozo ; Miguel Fern&#xe1 ; ndez-Arquero ; Antonio Ferreira ; Elena Urcelay ; Gumersindo Font&#xe1 ; n ; Emilio G. de la Concha ; Concepció ; n N&
• 关键词：Interleukin-6 ; Selective IgA deficiency ; Disease susceptibility ; Polymorphism
• 刊名：Human Immunology
• 出版年：2008
• 期刊代码：75_01988859
• 类别：bio
• 出版时间：April-May 2008
• 卷：69
• 期：4-5
• 页码：301-305
• 文件大小：258 K

摘要

Selective immunoglobulin-A deficiency (IgAD) is the most common immunodeficiency in Caucasian populations. Genetic factors are important in its etiology; however human leukocyte antigen (HLA) genes, which explain 40%of the genetic risk for IgAD, are the only susceptibility factors commonly agreed upon at this time. Because interleukin-6 (IL-6) plays an important role in B-lymphocyte differentiation from plasma cells, we aimed to address the IL-6 genetic influence on IgAD susceptibility. We performed a case-control study that included 305 Caucasian Spanish IgAD patients and 529 ethnically matched healthy control subjects, as well as a familial study with 128 IgAD trios. We genotyped the functional promoter polymorphism −174G>C and nine additional single nucleotide polymorphisms. For the case-control analyses the χ² test or Fisher's exact test were used, and for the family study the transmission disequilibrium test was used. We observed an increased frequency of the −174C allele in IgAD patients (p = 0.005, odds ratio [OR] = 1.51, 95%confidence interval [CI] = 1.12–2.04) and a protective effect of the rs2069849_C allele (p = 0.007, odds ratio = 0.29, 95%CI = 0.09–0.76). In conclusion, we described for the first time an association between IL6 polymorphisms and IgAD. Although it is not clear which genetic variants are causing susceptibility/protection, this intriguing finding is remarkable because of the role of IL-6 in antibody production.