PMID- 16865785 OWN - NLM STAT- MEDLINE DCOM- 20060905 LR - 20221207 IS - 1007-9327 (Print) IS - 2219-2840 (Electronic) IS - 1007-9327 (Linking) VI - 12 IP - 27 DP - 2006 Jul 21 TI - A functional variant in the CD209 promoter is associated with DQ2-negative celiac disease in the Spanish population. PG - 4397-400 AB - AIM: To address the role of CD209 in celiac disease (CD) patients. Non-human leukocyte antigen (HLA) genetic factors in CD predisposition are poorly understood, and environmental factors like infectious pathogens may play a role. CD209 is a dendritic and macrophage surface molecule involved in pathogen recognition and immune activation. Recently, a functional variant in the promoter of the CD209 gene (-336A/G) has been shown to affect the transcriptional CD209 activity in vitro and it has been associated with a higher susceptibility to/or severity of infection. METHODS: The study population was composed of two case-control cohorts of 103 and 386 CD patients and 312 y 419 healthy controls as well as a panel of 257 celiac families. Genotyping for the -336A/G CD209 promoter polymorphism was performed using a TaqMan 5' allelic discrimination assay. HLA-DQ was determined by hybridization with allele specific probes. RESULTS: Initially, the case-control and familial studies did not find any association of the -336 A/G CD209 genetic variant with CD susceptibility. However, the stratification by HLA-DQ2 did reveal a significant association of CD209 promoter polymorphism in the HLA-DQ2 (-) group (carrier A vs GG in DQ2 (-) vs DQ2 (+) patients (P = 0.026, OR = 3.71). CONCLUSION: The -336G CD209 allele seems to be involved in CD susceptibility in HLA-DQ2 (-) patients. Our results might suggest a possible role of pathogens in the onset of a minor group of CD patients. FAU - Nunez, C AU - Nunez C AD - Servicio de Inmunologia Clinica, Hospital Clinico San Carlos, Madrid 28040, Spain. FAU - Rueda, B AU - Rueda B FAU - Martinez, A AU - Martinez A FAU - Maluenda, C AU - Maluenda C FAU - Polanco, I AU - Polanco I FAU - Lopez-Nevot, M-A AU - Lopez-Nevot MA FAU - Ortega, E AU - Ortega E FAU - Sierra, E AU - Sierra E FAU - Gomez de la Concha, E AU - Gomez de la Concha E FAU - Urcelay, E AU - Urcelay E FAU - Martin, J AU - Martin J LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - World J Gastroenterol JT - World journal of gastroenterology JID - 100883448 RN - 0 (Cell Adhesion Molecules) RN - 0 (DC-specific ICAM-3 grabbing nonintegrin) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ2 antigen) RN - 0 (Lectins, C-Type) RN - 0 (Receptors, Cell Surface) SB - IM MH - Alleles MH - Case-Control Studies MH - Celiac Disease/epidemiology/ethnology/*genetics/physiopathology MH - Cell Adhesion Molecules/*genetics/physiology MH - Child MH - Child, Preschool MH - Female MH - Genetic Predisposition to Disease MH - HLA-DQ Antigens/*genetics/physiology MH - Humans MH - Lectins, C-Type/*genetics/physiology MH - Male MH - Polymorphism, Genetic MH - Promoter Regions, Genetic/*genetics/physiology MH - Receptors, Cell Surface/*genetics/physiology MH - Severity of Illness Index MH - Spain/epidemiology/ethnology MH - White People/genetics PMC - PMC4087754 EDAT- 2006/07/26 09:00 MHDA- 2006/09/06 09:00 PMCR- 2006/07/21 CRDT- 2006/07/26 09:00 PHST- 2006/07/26 09:00 [pubmed] PHST- 2006/09/06 09:00 [medline] PHST- 2006/07/26 09:00 [entrez] PHST- 2006/07/21 00:00 [pmc-release] AID - 10.3748/wjg.v12.i27.4397 [doi] PST - ppublish SO - World J Gastroenterol. 2006 Jul 21;12(27):4397-400. doi: 10.3748/wjg.v12.i27.4397.