PMID- 19317741
OWN - NLM
STAT- MEDLINE
DCOM- 20090529
LR  - 20100520
IS  - 1399-0039 (Electronic)
IS  - 0001-2815 (Linking)
VI  - 73
IP  - 4
DP  - 2009 Apr
TI  - Autoimmune disease association signals in CIITA and KIAA0350 are not involved in 
      celiac disease susceptibility.
PG  - 326-9
LID - 10.1111/j.1399-0039.2009.01216.x [doi]
AB  - Celiac disease (CD) is a multifactorial disease characterized by intestinal 
      inflammation after gluten exposure in genetically susceptible individuals. A 
      strong influence of certain human leukocyte antigen (HLA) alleles (those coding 
      the HLA-DQ2 and DQ8 heterodimers) is well established, but they cannot explain 
      the overall genetic risk. CIITA could be a good candidate gene for CD because it 
      is mainly transcriptionally regulated, and it encodes the master regulator of 
      major histocompatibilty complex class II gene transcription. CIITA is located in 
      16p13, a region also containing KIAA0350 (CLEC16A), associated with two 
      autoimmune diseases in genome-wide association studies. We aimed at studying the 
      involvement of polymorphisms in CIITA and KIAA0350 in CD susceptibility, with 
      special attention to evaluate the possible presence of more than one risk factor 
      in the region. We performed a case-control study with 607 CD patients and up to 
      794 healthy controls, all Spaniards. All samples were genotyped for five single 
      nucleotide polymorphisms: rs3087456 (-168A/G) and rs4774 in CIITA and rs7203459, 
      rs6498169 and rs2903692 in KIAA0350. No significant results were obtained when 
      comparing genotypic, allelic or haplotypic frequencies between patients and 
      controls. Our results seem to discard the influence in CD susceptibility of CIITA 
      and KIAA0350 markers previously associated with other autoimmune diseases.
FAU - Dema, B
AU  - Dema B
AD  - Servicio de Inmunologia Clinica, Hospital Clinico San Carlos, Madrid, Spain.
FAU - Martinez, A
AU  - Martinez A
FAU - Fernandez-Arquero, M
AU  - Fernandez-Arquero M
FAU - Maluenda, C
AU  - Maluenda C
FAU - Polanco, I
AU  - Polanco I
FAU - Angeles Figueredo, M
AU  - Angeles Figueredo M
FAU - de la Concha, E G
AU  - de la Concha EG
FAU - Urcelay, E
AU  - Urcelay E
FAU - Nunez, C
AU  - Nunez C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (CLEC16A protein, human)
RN  - 0 (Lectins, C-Type)
RN  - 0 (MHC class II transactivator protein)
RN  - 0 (Monosaccharide Transport Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Trans-Activators)
SB  - IM
MH  - Alleles
MH  - Autoimmune Diseases/*genetics
MH  - Case-Control Studies
MH  - Celiac Disease/*genetics/immunology
MH  - Disease Susceptibility
MH  - Genetic Predisposition to Disease
MH  - Haplotypes
MH  - Humans
MH  - Lectins, C-Type/*genetics/metabolism
MH  - Linkage Disequilibrium
MH  - Monosaccharide Transport Proteins/*genetics/metabolism
MH  - Nuclear Proteins/*genetics/metabolism
MH  - Polymorphism, Single Nucleotide
MH  - Trans-Activators/*genetics/metabolism
EDAT- 2009/03/26 09:00
MHDA- 2009/05/30 09:00
CRDT- 2009/03/26 09:00
PHST- 2009/03/26 09:00 [entrez]
PHST- 2009/03/26 09:00 [pubmed]
PHST- 2009/05/30 09:00 [medline]
AID - TAN1216 [pii]
AID - 10.1111/j.1399-0039.2009.01216.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2009 Apr;73(4):326-9. doi: 10.1111/j.1399-0039.2009.01216.x.