title: An HLA study in 74 Danish haemochromatosis patients and in 21 of their families.
abstract: HLA-A and -B alleles in 74 Danish patients and 21 homozygous relatives with idiopathic haemochromatosis (IH) were compared with those in a sample of 1719 chromosomes from healthy Danish control subjects. The following alleles occurred with higher frequencies in IH compared to controls: A3: 53.6% vs. 15.1% (Pc less than 0.001); B7: 33.1% vs. 15.6% (Pc less than 0.001); B14: 6.9% vs. 3.0% (Pc greater than 0.05); B38: 5% vs. 0.9% (Pc greater than 0.05); B47: 4.0% vs. 0.4% (Pc greater than 0.05). Pedigree analyses disclosed 19 different haplotypes in IH subjects, compared to 286 haplotypes in controls. The following haplotypes occurred with higher frequency in IH compared to controls: A3,B5: 10.3% vs. 0.3% (Pc less than 0.001); A3,B7: 25.6% vs. 6.6% (Pc = 0.001); A3,B14: 3.4% vs. 0.6% (Pc greater than 0.05); A3,B47: 6.9% vs. 0.2% (Pc greater than 0.05). The major IH marker HLA-A3 was found in 56% of the haplotypes. The patterns of HLA-alleles associated with IH in Denmark show similarities to those in Central Europe, Australia, USA and Canada, being A3,B7 dominated and those in Central Sweden, England and Ireland, being A3,B14 dominated.
authors.affiliation: Department of Pulmonary Medicine, Gentofte Hospital, Hellerup, Denmark.
authors.forename: N
authors.initials: N
authors.lastname: Milman
authors.forename: N
authors.initials: N
authors.lastname: Graudal
authors.forename: L S
authors.initials: LS
authors.lastname: Nielsen
authors.forename: K
authors.initials: K
authors.lastname: Fenger
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D003718:Denmark / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis* / Q000235:genetics; D006239:Haplotypes; D006432:Hemochromatosis / Q000097:blood / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000032:analysis; D008099:Liver / Q000737:chemistry / Q000473:pathology; D008297:Male; D008875:Middle Aged
chemical_list: D006680:HLA Antigens; D007501:Iron