Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression
Backgroundl Aims: Hereditary haemochromatosis shows a wide variation in phenotypic
expression, which is thought to be due, in part, to genetic factors. A single missense
mutation inHFE, leading to an amino acid substitution (C282Y) has been shown to be the
causative mutation, clearly responsible for clinical expression of the disorder. Since
homozygosity for the C282Y mutation can give rise to a disorder which shows wide variation
in clinical expression, we investigated the possibility that genetic modifiers ofHFE may exist …
expression, which is thought to be due, in part, to genetic factors. A single missense
mutation inHFE, leading to an amino acid substitution (C282Y) has been shown to be the
causative mutation, clearly responsible for clinical expression of the disorder. Since
homozygosity for the C282Y mutation can give rise to a disorder which shows wide variation
in clinical expression, we investigated the possibility that genetic modifiers ofHFE may exist …