title: HLA antigens and haplotypes associated with idiopathic haemochromatosis in Veneto: peculiar association with HLA-A3,B35.
abstract: HLA-A and HLA-B antigens were determined in 16 unrelated subjects orginating from Veneto affected by idiopathic haemochromatosis (IH). HLA-A3 was found in 13/16 patients vs. 300/1,348 controls (p less than 0.00005). Prevalences of A3,B35 haplotype were 0.4375 in patients vs. 0.0816 in controls (p less than 0.0005). Linkage disequilibrium analysis proved the existence of a positive third-order linkage disequilibrium among IH, HLA-A3 and HLA-B35 alleles. Our data confirm the close association of IH and HLA-A3 and prove the peculiar association of the disease with A3,B35 haplotype in north-eastern regions of Italy. The positive third-order linkage disequilibrium suggests a remote event (mutation, recombination or immigration) as origin for IH and A3,B35 association.
authors.affiliation: 1 Divisione Medica, Ospedale Regionale di Treviso, Italia.
authors.forename: E
authors.initials: E
authors.lastname: De Menis
authors.forename: F
authors.initials: F
authors.lastname: Breda
authors.forename: A
authors.initials: A
authors.lastname: Monco
authors.forename: G
authors.initials: G
authors.lastname: Foscolo
authors.forename: P
authors.initials: P
authors.lastname: Legovini
authors.forename: E
authors.initials: E
authors.lastname: Scaldaferri
authors.forename: L
authors.initials: L
authors.lastname: Moro
authors.forename: N
authors.initials: N
authors.lastname: Conte
mesh_terms: D000483:Alleles; D015415:Biomarkers / Q000032:analysis; D005260:Female; D015791:HLA-A3 Antigen / Q000032:analysis*; D015797:HLA-B35 Antigen / Q000032:analysis*; D006239:Haplotypes; D006432:Hemochromatosis / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male
chemical_list: D015415:Biomarkers; D015791:HLA-A3 Antigen; D015797:HLA-B35 Antigen