Rapid Communication
Copyright ©2006 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Jul 21, 2006; 12(27): 4397-4400
Published online Jul 21, 2006. doi: 10.3748/wjg.v12.i27.4397
A functional variant in the CD209 promoter is associated with DQ2-negative celiac disease in the Spanish population
C Núñez, B Rueda, A Martínez, C Maluenda, I Polanco, MA López-Nevot, E Ortega, E Sierra, E Gómez de la Concha, E Urcelay, J Martín
C Núñez, A Martínez, E Gómez de la Concha, E Urcelay, Servicio de Inmunología Clínica, Hospital Clínico San Carlos, Madrid, Spain
B Rueda, J Martín, Instituto de Parasitología y Biomedicina “López Neyra”, CSIC, Granada, Spain
C Maluenda, Servicio de Pediatría, Hospital Clínico San Carlos, Madrid, Spain
I Polanco, Servicio de Gastroenterología y Nutrición Pediátrica, Hospital La Paz, Madrid, Spain
MA López-Nevot, Servicio de Inmunología, Hospital Virgen de las Nieves, Granada, Spain
E Ortega, Servicio de Pediatría, Hospital Virgen de las Nieves, Granada, Spain
E Sierra, Centro de Investigaciones Biológicas, CISC, Madrid, Spain
Supported by the Spanish Ministerio de Educación, Ciencia y Tecnología, SAF 2003-08522
Correspondence to: Dr. Alfonso Martínez, Servicio de Inmunología Clínica, Hospital Clínico San Carlos, C/Martín Lagos s/n, Madrid 28040, Spain. alfmdoncel@gmail.com
Telephone: +34-913-303347 Fax: +34-913-303344
Received: February 11, 2006
Revised: February 28, 2006
Accepted: March 10, 2006
Published online: July 21, 2006
Abstract

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.

Keywords: CD209; HLA-DQ2; Celiac disease; Single nucleotide polymorphism; Susceptibility