PMID- 15740492
OWN - NLM
STAT- MEDLINE
DCOM- 20050630
LR  - 20161124
IS  - 0815-9319 (Print)
IS  - 0815-9319 (Linking)
VI  - 20
IP  - 3
DP  - 2005 Mar
TI  - Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary 
      hemochromatosis and sporadic porphyria cutanea tarda.
PG  - 456-62
AB  - BACKGROUND AND AIMS: It has been postulated that the HFE C282Y mutation (linked 
      to human leukocyte antigen [HLA]-A3-B7 haplotype) is not only responsible for 
      hereditary hemochromatosis; HLA class I alleles would also contribute to the 
      disease pathogenesis. In addition, H63D mutation linked to HLA-A29-B44 would also 
      be pathogenetic, particularly in the Mediterranean Basin and throughout the 
      world. However, sporadic porphyria cutanea tarda (s-PCT) has also been linked to 
      these HFE mutations. In the present work, we have studied HFE mutations and HLA 
      genes to test these hypotheses. METHODS: C282Y and H63D mutations together with 
      HLA genetic typing have been performed in Spanish hereditary hemochromatosis (n = 
      98) and PCT (n = 63) patients. The etiologic fraction (delta) has been used to 
      determine the absolute strongest gene linkage to both diseases. RESULTS: The 
      Spanish frequent HLA-A29-B44 haplotype is not significantly associated to the 
      H63D mutations in hereditary hemochromatosis patients (although it is found more 
      frequently in patients than in controls). Sporadic porphyria cutanea tarda 
      patients do not show a significant association to H63D mutations, although it is 
      also more frequent than in controls; however, compound H63D/C282Y subjects seem 
      to bear a significant risk to s-PCT. Allelic C282Y (and not H63D) frequencies 
      show a significant association with s-PCT. CONCLUSIONS: The postulated additional 
      risk of hereditary hemochromatosis given by class I HLA antigens may be secondary 
      to the HFE gene linkage disequilibrium with certain class I alleles or to the 
      existence of other neighboring genetic pathogenetic factors in our Spanish 
      sample.
FAU - Gonzalez-Hevilla, Mario
AU  - Gonzalez-Hevilla M
AD  - Department of Immunology, Hospital 12 de Octubre, Universidad Complutense, 
      Madrid, Spain.
FAU - de Salamanca, Rafael E
AU  - de Salamanca RE
FAU - Morales, Pablo
AU  - Morales P
FAU - Martinez-Laso, Jorge
AU  - Martinez-Laso J
FAU - Fontanellas, Antonio
AU  - Fontanellas A
FAU - Castro, Maria Jose
AU  - Castro MJ
FAU - Rojo, Ricardo
AU  - Rojo R
FAU - Moscoso, Juan
AU  - Moscoso J
FAU - Zamora, Jorge
AU  - Zamora J
FAU - Serrano-Vela, Juan Ignacio
AU  - Serrano-Vela JI
FAU - Arnaiz-Villena, Antonio
AU  - Arnaiz-Villena A
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Australia
TA  - J Gastroenterol Hepatol
JT  - Journal of gastroenterology and hepatology
JID - 8607909
RN  - 0 (Antibodies, Monoclonal)
RN  - 0 (Genetic Markers)
RN  - 0 (HFE protein, human)
RN  - 0 (HLA Antigens)
RN  - 0 (Hemochromatosis Protein)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Membrane Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Alleles
MH  - Antibodies, Monoclonal
MH  - DNA/genetics
MH  - Gene Frequency/genetics
MH  - Genetic Markers
MH  - HLA Antigens/*genetics/immunology
MH  - Haplotypes/*genetics
MH  - Hemochromatosis Protein
MH  - Hemosiderosis/blood/ethnology/*genetics
MH  - Histocompatibility Antigens Class I/*genetics/immunology
MH  - Humans
MH  - Membrane Proteins/*genetics/immunology
MH  - *Mutation/genetics
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length
MH  - Porphyria Cutanea Tarda/blood/ethnology/*genetics
MH  - Prevalence
MH  - Spain/epidemiology
EDAT- 2005/03/03 09:00
MHDA- 2005/07/01 09:00
CRDT- 2005/03/03 09:00
PHST- 2005/03/03 09:00 [pubmed]
PHST- 2005/07/01 09:00 [medline]
PHST- 2005/03/03 09:00 [entrez]
AID - JGH3553 [pii]
AID - 10.1111/j.1440-1746.2005.03553.x [doi]
PST - ppublish
SO  - J Gastroenterol Hepatol. 2005 Mar;20(3):456-62. doi: 
      10.1111/j.1440-1746.2005.03553.x.