PMID- 22648004 OWN - NLM STAT- MEDLINE DCOM- 20130110 LR - 20221207 IS - 1476-5470 (Electronic) IS - 1466-4879 (Linking) VI - 13 IP - 6 DP - 2012 Sep TI - CD14 polymorphisms correlate with an augmented risk for celiac disease in Italian patients. PG - 489-95 LID - 10.1038/gene.2012.23 [doi] AB - Celiac disease (CD) is a T-cell-mediated chronic inflammatory disease characterized by autoimmune, immunological and environmental components, where genetic factors in addition to the main known risk factors (gliadin and human leukocyte antigen (HLA)-DQ haplotypes) are supposed to be involved. CD14 is a multifunctional receptor involved in the bacterial lipopolysaccharides-dependent signal transduction. The CD14 gene maps on the long arm of chromosome 5 (5q22-q32), a 'hotbed' region for CD; promoter polymorphisms are known to influence its expression. In this study we analyzed three CD14 promoter polymorphisms (c.-1359G>T, c.-1145A>G and c.-159C>T, ) in 938 CD Italian patients and 533 healthy controls, with known HLA-DQ haplotypes, with the aim of evaluating their possible association with the disease. The c.-1145A>G G and c.-159C>T T alleles (as well as the combination of the two alleles in the GT haplotype), were identified as susceptibility factors for CD development, being significantly more frequent in CD patients than in healthy controls. This association was also confirmed when the analysis was restricted to only those subjects characterized by HLA-DQ risk haplotypes. Our results indicate the involvement of CD14 gene polymorphisms in the susceptibility to CD. FAU - Catamo, E AU - Catamo E AD - Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, University of Trieste, Trieste, Italy. FAU - Segat, L AU - Segat L FAU - Lenarduzzi, S AU - Lenarduzzi S FAU - Petix, V AU - Petix V FAU - Morgutti, M AU - Morgutti M FAU - Crovella, S AU - Crovella S LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20120531 PL - England TA - Genes Immun JT - Genes and immunity JID - 100953417 RN - 0 (HLA Antigens) RN - 0 (Lipopolysaccharide Receptors) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Case-Control Studies MH - Celiac Disease/*genetics/*immunology MH - Child MH - Child, Preschool MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease MH - HLA Antigens/genetics MH - Haplotypes MH - Humans MH - Infant MH - Italy MH - Linkage Disequilibrium MH - Lipopolysaccharide Receptors/*genetics MH - Male MH - Middle Aged MH - *Polymorphism, Single Nucleotide MH - Risk Factors MH - White People/genetics MH - Young Adult EDAT- 2012/06/01 06:00 MHDA- 2013/01/11 06:00 CRDT- 2012/06/01 06:00 PHST- 2012/06/01 06:00 [entrez] PHST- 2012/06/01 06:00 [pubmed] PHST- 2013/01/11 06:00 [medline] AID - gene201223 [pii] AID - 10.1038/gene.2012.23 [doi] PST - ppublish SO - Genes Immun. 2012 Sep;13(6):489-95. doi: 10.1038/gene.2012.23. Epub 2012 May 31.