PMID- 18486766
OWN - NLM
STAT- MEDLINE
DCOM- 20080721
LR  - 20221207
IS  - 0198-8859 (Print)
IS  - 0198-8859 (Linking)
VI  - 69
IP  - 4-5
DP  - 2008 Apr-May
TI  - Interleukin-6 gene variation in Spanish patients with immunoglobulin-A 
      deficiency.
PG  - 301-5
LID - 10.1016/j.humimm.2008.02.002 [doi]
AB  - 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.
FAU - Lopez-Mejias, Raquel
AU  - Lopez-Mejias R
AD  - Department of Clinical Immunology, Hospital Clinico San Carlos, Madrid, Spain.
FAU - Martinez, Alfonso
AU  - Martinez A
FAU - Del Pozo, Nadia
AU  - Del Pozo N
FAU - Fernandez-Arquero, Miguel
AU  - Fernandez-Arquero M
FAU - Ferreira, Antonio
AU  - Ferreira A
FAU - Urcelay, Elena
AU  - Urcelay E
FAU - Fontan, Gumersindo
AU  - Fontan G
FAU - de la Concha, Emilio G
AU  - de la Concha EG
FAU - Nunez, Concepcion
AU  - Nunez C
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080325
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
RN  - 0 (IL6 protein, human)
RN  - 0 (Interleukin-6)
SB  - IM
MH  - Case-Control Studies
MH  - Confidence Intervals
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease
MH  - Haplotypes
MH  - Humans
MH  - IgA Deficiency/*genetics
MH  - Interleukin-6/*genetics
MH  - Odds Ratio
MH  - *Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic
MH  - Spain/epidemiology
MH  - White People
EDAT- 2008/05/20 09:00
MHDA- 2008/07/22 09:00
CRDT- 2008/05/20 09:00
PHST- 2008/01/10 00:00 [received]
PHST- 2008/02/12 00:00 [revised]
PHST- 2008/02/21 00:00 [accepted]
PHST- 2008/05/20 09:00 [pubmed]
PHST- 2008/07/22 09:00 [medline]
PHST- 2008/05/20 09:00 [entrez]
AID - S0198-8859(08)00036-0 [pii]
AID - 10.1016/j.humimm.2008.02.002 [doi]
PST - ppublish
SO  - Hum Immunol. 2008 Apr-May;69(4-5):301-5. doi: 10.1016/j.humimm.2008.02.002. Epub 
      2008 Mar 25.