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 < 0.00005). Prevalences of A3, B35 haplotype were 0.4375 in patients vs. 0.0816 in controls (p < 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.

Keywords:
HLA antigens, HLA haplotypes, Idiopathic haemochromatosis, Linkage disequilibrium
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© 1990 S. Karger AG, Basel
1990
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