Serum Ferritin as a Marker of Affection for Genetic Hemochromatosis
作者:
I.B. Borecki,
D.C. Rao,
J. Yaouanq,
J.M. Lalouel,
期刊:
Human Heredity
(Karger Available online 1990)
卷期:
Volume 40,
issue 3
页码: 159-166
ISSN:0001-5652
年代: 1990
DOI:10.1159/000153924
出版商: S. Karger AG
关键词: Hemochromatosis;Serum ferritin;Genetics
数据来源: Karger
摘要:
A bivariate segregation analysis of genetic hemochromatosis with serum ferritin concentration was undertaken to examine the pleiotropic effect of the hemochromatosis locus on each of the two phenotypes, in an ascertained sample of families from Brittany, France. The gene was recessive with respect to both phenotypes, and the estimated gene frequency in the general population was 0.054. Although the ferritin concentration was corrected for the linear relationship with age among controls, there was a residual correlation with age among male family members, consistent with the progressive increase in body iron stores among hemochromatosis homozygotes. This genotype-specific relationship with age illustrates the importance of incorporating interaction effects into analytic models, and suggests that even as a better indicator of progress of disease, rather than liability to disease, serum ferritin concentration serves well to distinguish hemochromatosis homozygotes from alternate genotypes in a family study.
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