Linked Life Data

18486766

Source:http://linkedlifedata.com/resource/pubmed/id/18486766

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4-5
pubmed:dateCreated
2008-5-19
pubmed:abstractText
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 chi(2) 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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0198-8859
pubmed:author
pubmed:issnType
Print
pubmed:volume
69
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
301-5
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:articleTitle
Interleukin-6 gene variation in Spanish patients with immunoglobulin-A deficiency.
pubmed:affiliation
Department of Clinical Immunology, Hospital Clínico San Carlos, Madrid, Spain.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't