PMID- 15014431
OWN - NLM
STAT- MEDLINE
DCOM- 20041106
LR  - 20111117
IS  - 1466-4879 (Print)
IS  - 1466-4879 (Linking)
VI  - 5
IP  - 3
DP  - 2004 May
TI  - Defining the contribution of the HLA region to cis DQ2-positive coeliac disease 
      patients.
PG  - 215-20
AB  - The major genetic susceptibility to coeliac disease is contributed by the human 
      leukocyte antigen (HLA) region. The primary association is with the HLA-DQ2 
      molecule, encoded by the DQA1*05 and DQB1*02 alleles, which is expressed by over 
      90% of patients. The aim of our study was to perform an extensive scan of the 
      entire HLA region to determine whether there is evidence for the presence of 
      additional HLA susceptibility genes for coeliac disease in the Dutch population, 
      acting independently of DQ2. In all, 16 microsatellite markers and the DQA1 and 
      DQB1 genes were genotyped in simplex cis DQ2-positive coeliac disease families 
      and cis DQ2-positive control families. Allele frequencies of markers on 
      phase-known DQ2-positive haplotypes transmitted to patients were compared to a 
      combined group of DQ2-positive nontransmitted and control haplotypes, thereby 
      controlling for the DQ2 contribution. No significant differences at any of the 
      marker loci were detected, suggesting that DQ2 is the major HLA risk factor for 
      coeliac disease. Individuals homozygous for DQ2 or heterozygous for 
      DQA1*05-DQB1*02/DQA1*0201-DQB1*02 were found to be at five-fold increased risk 
      for development of coeliac disease (P<10(-8)). This risk seems to be conferred by 
      the presence of a second DQB1*02 allele next to one DQA1*05-DQB1*02 haplotype, 
      independently of the second DQA1 allele.
FAU - van Belzen, M J
AU  - van Belzen MJ
AD  - Complex Genetics Group, Department of Biomedical Genetics, University Medical 
      Centre Utrecht, Utrecht, The Netherlands.
FAU - Koeleman, B P C
AU  - Koeleman BP
FAU - Crusius, J B A
AU  - Crusius JB
FAU - Meijer, J W R
AU  - Meijer JW
FAU - Bardoel, A F J
AU  - Bardoel AF
FAU - Pearson, P L
AU  - Pearson PL
FAU - Sandkuijl, L A
AU  - Sandkuijl LA
FAU - Houwen, R H J
AU  - Houwen RH
FAU - Wijmenga, C
AU  - Wijmenga C
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Genes Immun
JT  - Genes and immunity
JID - 100953417
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ alpha-Chains)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQA1 antigen)
RN  - 0 (HLA-DQB1 antigen)
SB  - IM
MH  - Adolescent
MH  - Case-Control Studies
MH  - Celiac Disease/*genetics
MH  - Family
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease/*genetics
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ alpha-Chains
MH  - HLA-DQ beta-Chains
MH  - Haplotypes/*genetics
MH  - Heterozygote
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Middle Aged
MH  - Risk Factors
EDAT- 2004/03/12 05:00
MHDA- 2004/11/09 09:00
CRDT- 2004/03/12 05:00
PHST- 2004/03/12 05:00 [pubmed]
PHST- 2004/11/09 09:00 [medline]
PHST- 2004/03/12 05:00 [entrez]
AID - 6364061 [pii]
AID - 10.1038/sj.gene.6364061 [doi]
PST - ppublish
SO  - Genes Immun. 2004 May;5(3):215-20. doi: 10.1038/sj.gene.6364061.