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BMC Med Genet. 2005; 6: 29.
Published online 2005 August 3. doi: 10.1186/1471-2350-6-29.
PMCID: PMC1190178
Association study of functional genetic variants of innate immunity related genes in celiac disease
B Rueda,1 A Zhernakova,2 MA López-Nevot,3 J Martín,1 and BPC Koelemancorresponding author2
1Instituto de Parasitología y Biomedicina "López-Neyra", CSIC, Granada, Spain
2Complex Genetics Group, Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands
3Servicio de Inmunología, Hospital Virgen de las Nieves, Granada, Spain
corresponding authorCorresponding author.
B Rueda: blarume/at/ipb.csic.es; A Zhernakova: a.zhernakova/at/med.uu.nl; MA López-Nevot: miguel.lopez.nevot.sspa/at/juntadeandalucia.es; J Martín: martin/at/ipb.csic.es; BPC Koeleman: b.p.c.koeleman/at/med.uu.nl
Received March 29, 2005; Accepted August 3, 2005.
Abstract
Background
Recent evidence suggest that the innate immune system is implicated in the early events of celiac disease (CD) pathogenesis. In this work for the first time we have assessed the relevance of different proinflammatory mediators typically related to innate immunity in CD predisposition.
Methods
We performed a familial study in which 105 celiac families characterized by the presence of an affected child with CD were genotyped for functional polymorphisms located at regulatory regions of IL-1α, IL-1β, IL-1RN, IL-18, RANTES and MCP-1 genes. Familial data was analysed with a transmission disequilibrium test (TDT) that revealed no statistically significant differences in the transmission pattern of the different genetic markers considered.
Results
The TDT analysis for IL-1α, IL-1β, IL-1RN, IL-18, and MCP-1 genes genetic variants did not reveal biased transmission to the affected offspring. Only a borderline association of RANTES promoter genetic variants with CD predisposition was observed.
Conclusion
Our results suggest that the analysed polymorphisms of IL-1α, IL-1β, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.