PMID- 15120190
OWN - NLM
STAT- MEDLINE
DCOM- 20041109
LR  - 20220311
IS  - 0198-8859 (Print)
IS  - 0198-8859 (Linking)
VI  - 65
IP  - 4
DP  - 2004 Apr
TI  - Allele and haplotype frequencies for HLA class II (DQA1 and DQB1) loci in 
      patients with celiac disease from Spain.
PG  - 352-8
AB  - Celiac disease (CD) is a complex and multifactorial disease, defined as a 
      malabsorptive disorder of the small intestine resulting from ingestion of gluten. 
      Genetic susceptibility to CD has been associated with human leukocyte antigen 
      (HLA)-DQ2 heterodimer, encoded by the DQA1*0501 and DQB1*02 genes. However, HLA 
      risk factors do not explain the whole genetic predisposition: not all 
      DQ2-encoding haplotypes confer equal susceptibility to CD. The aim of the present 
      work was to confirm the aforementioned findings in a southern European 
      population. With this purpose, 136 unrelated children diagnosed with CD were 
      typed at the DNA level for HLA-DQA1 and -DQB1 loci. Patients are currently 
      attended at the Donostia Hospital (province of Guipuzcoa, Spain). HLA class II 
      typing was performed by polymerase chain reaction-sequence specific primer 
      procedures. Conspicuous frequencies of the alleles associated with susceptibility 
      to CD were observed (DQA1*0501: 0.592, DQB1*0201: 0.471). Accordingly, the 
      haplotypes DQA1*0501-DQB1*0201 and DQA1*0201-DQB1*0202 revealed a strong linkage 
      disequilibrium (18.84% and 18.75%, respectively) when compared with the Spanish 
      general population. Of the total sample, 93.4% (127 individuals) were carriers of 
      DQ2 heterodimer, either in homozygosis or in heterozygosis. This percentage 
      coincides with figures reported in previous studies, implying the effect of other 
      genes in the development of CD.
FAU - Vidales, M Concepcion
AU  - Vidales MC
AD  - Unidad de Genetica Molecular, Policlinica Gipuzkoa, Hospital Donostia, San 
      Sebastian, Spain.
FAU - Zubillaga, Paul
AU  - Zubillaga P
FAU - Zubillaga, Itziar
AU  - Zubillaga I
FAU - Alfonso-Sanchez, Miguel A
AU  - Alfonso-Sanchez MA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Immunol
JT  - Human immunology
JID - 8010936
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)
RN  - 0 (Membrane Glycoproteins)
SB  - IM
MH  - Adolescent
MH  - Celiac Disease/diagnosis/epidemiology/*genetics
MH  - Child
MH  - Child, Preschool
MH  - DNA Fingerprinting
MH  - Female
MH  - *Gene Frequency
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ alpha-Chains
MH  - HLA-DQ beta-Chains
MH  - Haplotypes
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Genetic
MH  - Spain/epidemiology
EDAT- 2004/05/04 05:00
MHDA- 2004/11/13 09:00
CRDT- 2004/05/04 05:00
PHST- 2003/10/27 00:00 [received]
PHST- 2003/12/30 00:00 [revised]
PHST- 2003/12/31 00:00 [accepted]
PHST- 2004/05/04 05:00 [pubmed]
PHST- 2004/11/13 09:00 [medline]
PHST- 2004/05/04 05:00 [entrez]
AID - S0198885904000138 [pii]
AID - 10.1016/j.humimm.2003.12.014 [doi]
PST - ppublish
SO  - Hum Immunol. 2004 Apr;65(4):352-8. doi: 10.1016/j.humimm.2003.12.014.