Abstract
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused
by a large number of different mutations in the ATP7B gene. R778L mutation is mostly observed in Chinese, Japanese and Korean patients,
whereas the H1069Q point mutation in the ATP7B gene is the most frequent mutation in European patients with WD. In our previous
study we did not find a significant correlation between genotype and phenotype (age
of onset and clinical presentation) in patients homozygous (37 patients) or heterozygous
(52 patients) for R778L. It was reported that European patients homozygous for H1069Q
who were also homozygous for the ApoE genotype ε3/3 developed clinical symptoms 5–11 years later than did patients with genotypes
other than ApoE ε3/3. In the present study (i) we firstly observed that ApoE ε3/3 did not delay the onset of WD; (ii) no association between ApoE genotype and WD
clinical presentation in Chinese Han children, including those patients homozygous
for R778L. Thus we conclude that the onset of WD in Chinese children is not related
to ApoE ε3/3, although the high frequency of ApoE ε3/3 in Chinese Han children with WD was not significantly different from that in controls.
Keywords
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Article info
Publication history
Accepted:
January 31,
2005
Received in revised form:
January 31,
2005
Received:
August 31,
2004
Identification
Copyright
© 2005 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
