PMID- 25374428 OWN - NLM STAT- MEDLINE DCOM- 20160225 LR - 20221207 IS - 1573-4978 (Electronic) IS - 0301-4851 (Linking) VI - 42 IP - 2 DP - 2015 Feb TI - Interleukin-18 gene promoter polymorphisms and celiac disease in Italian patients. PG - 525-33 LID - 10.1007/s11033-014-3796-z [doi] AB - Celiac disease (CD) is the most common food-sensitive enteropathy in genetically susceptible individuals. The major genetic risk factors known are specific human leukocyte antigen (HLA)-DQ haplotypes, but other genetic factors are supposed to be involved. Interleukin-18 (IL-18) is a pro-inflammatory cytokine that has an important role in the immune defense and it has the potential to influence inflammatory disorders. IL-18 is able to promote Th1 cell development and it is expressed in the mucosa of the small intestine in celiac patients. Given the IL-18 biological role, and since a few studies have previously suggested its involvement in CD, in order to investigate the role of IL18 gene in the susceptibility to CD we have performed a case-control study, analyzing two IL18 gene promoter polymorphisms, previously reported to impair the transcriptional activity of the gene, (-137G > C and -607C > A, rs187238 and rs1946518 respectively). A total of 556 CD Italian patients and 582 controls, further stratified for HLA class II (DQ) CD risk haplotypes were enrolled. The -607A > C A allele and A/A genotype, as well as the combination of this allele with the -137G allele in the AG haplotype, were associated with an increased risk towards CD development, in particular in HLA-DQ2.2 patients. Although the association was very moderate, our results indicate the possible involvement of IL18 gene in the susceptibility to CD, and for this reason we do think it should deserve further investigation. FAU - Zupin, Luisa AU - Zupin L AD - Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", via dell'Istria 65/1, 34137, Trieste, Italy. FAU - Catamo, Eulalia AU - Catamo E FAU - Polesello, Vania AU - Polesello V FAU - Crovella, Sergio AU - Crovella S FAU - Segat, Ludovica AU - Segat L LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20141106 PL - Netherlands TA - Mol Biol Rep JT - Molecular biology reports JID - 0403234 RN - 0 (HLA Antigens) RN - 0 (Interleukin-18) SB - IM MH - Alleles MH - Case-Control Studies MH - Celiac Disease/*epidemiology/*genetics MH - Female MH - Gene Frequency MH - Genetic Association Studies MH - *Genetic Predisposition to Disease MH - Genotype MH - HLA Antigens/genetics MH - Haplotypes MH - Humans MH - Interleukin-18/*genetics MH - Italy/epidemiology MH - Male MH - Odds Ratio MH - *Polymorphism, Single Nucleotide MH - *Promoter Regions, Genetic MH - White People EDAT- 2014/11/07 06:00 MHDA- 2016/02/26 06:00 CRDT- 2014/11/07 06:00 PHST- 2013/05/16 00:00 [received] PHST- 2014/10/14 00:00 [accepted] PHST- 2014/11/07 06:00 [entrez] PHST- 2014/11/07 06:00 [pubmed] PHST- 2016/02/26 06:00 [medline] AID - 10.1007/s11033-014-3796-z [doi] PST - ppublish SO - Mol Biol Rep. 2015 Feb;42(2):525-33. doi: 10.1007/s11033-014-3796-z. Epub 2014 Nov 6.