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Copyright © 2005 Rueda et al; licensee BioMed Central Ltd. Association study of functional genetic variants of innate immunity related genes in celiac disease 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 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. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 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. |
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