PMID- 17389015
OWN - NLM
STAT- MEDLINE
DCOM- 20070626
LR  - 20220223
IS  - 0001-2815 (Print)
IS  - 0001-2815 (Linking)
VI  - 69
IP  - 4
DP  - 2007 Apr
TI  - HLA-DRB1*0402 haplotypes without DQB1*0302 in Venezuelan patients with pemphigus 
      vulgaris.
PG  - 318-25
AB  - The two basic forms of autoimmune intraepidermal blistering diseases, pemphigus 
      vulgaris (PV) and pemphigus foliaceus (PF), affect different layers of the skin, 
      have different symptoms and target different antigens. We have defined human 
      leukocyte antigen (HLA)-DRB1-DQB1 alleles and haplotypes in a case-control study 
      of 66 non-Jewish patients attending a public reference Hospital over the past 10 
      years. The control group consisted of 101 matched individuals tested also by 
      medium to high-resolution polymerase chain reaction-sequence-specific 
      oligonucleotide with primers and probes from the 12th and 13th International 
      Histocompatibility Workshop. Patients and controls were descendants of 
      three-generation individuals born in the country. Among the patients, 49 had PV, 
      50% showed predominantly mucosal involvement, 50% showed predominantly the 
      cutaneous clinical phenotype and 17 had PF. Statistically significant HLA-DR 
      frequency differences between patients with PV and controls were found only for 
      DRB1*0402 and DRB1*1401 [odds ratio (OR) = 27.22, confidence interval (CI) 
      94.7-7.82, P= 1.1 x 10(-14) and OR = 46.56, CI 801.4-2.70 P= 7.5 x 10(-6), 
      respectively]. Both alleles were also increased in the patients with PF compared 
      with the controls (OR = 7.0, P= 0.038 and OR = 21.64, P= 0.009, respectively), 
      but the significance of the difference did not resist Bonferroni correction. 
      Haplotype analysis showed that DRB1*0402 was always present with DQB1*0302 and 
      DRB1*1401 with DQB1*0503, but no independent effect of the DQB1*0302 in the 
      former haplotype was evident. Our results support the hypothesis that the 
      DRB1*0402 without DQB1*0302 is the most relevant HLA-DRB1 allele responsible for 
      the pathogenesis of pemphigus in Venezuelan patients with PV and discard the 
      DQB1*0302 influence observed in other populations.
FAU - Saenz-Cantele, A M
AU  - Saenz-Cantele AM
AD  - Facultad de Medicina, Hospital Universitario de Caracas, Universidad Central de 
      Venezuela, Caracas, Venezuela.
FAU - Fernandez-Mestre, M
AU  - Fernandez-Mestre M
FAU - Montagnani, S
AU  - Montagnani S
FAU - Calebotta, A
AU  - Calebotta A
FAU - Balbas, O
AU  - Balbas O
FAU - Layrisse, Z
AU  - Layrisse Z
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 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (HLA-DRB1*04:02 antigen)
SB  - IM
MH  - Adult
MH  - Case-Control Studies
MH  - Female
MH  - Gene Frequency
MH  - *Genetic Predisposition to Disease
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ beta-Chains
MH  - HLA-DR Antigens/*genetics
MH  - HLA-DRB1 Chains
MH  - *Haplotypes
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Male
MH  - Middle Aged
MH  - Pemphigus/ethnology/*genetics
MH  - Prospective Studies
MH  - Venezuela
EDAT- 2007/03/29 09:00
MHDA- 2007/06/27 09:00
CRDT- 2007/03/29 09:00
PHST- 2007/03/29 09:00 [pubmed]
PHST- 2007/06/27 09:00 [medline]
PHST- 2007/03/29 09:00 [entrez]
AID - TAN826 [pii]
AID - 10.1111/j.1399-0039.2007.00826.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2007 Apr;69(4):318-25. doi: 10.1111/j.1399-0039.2007.00826.x.