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The C282Y Mutation Does Not Shorten Life Span
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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Bathum et al1 report an association
of the C282Y/wt genotype with a shortened life expectancy.
Although they are appropriately cautious in the interpretation of their results,
the unwary reader may conclude that heterozygosity for this mutation may be
harmful. However, it would be quite extraordinary for a common polymorphism
such as the HFE C282Y mutation to have an adverse phenotypic effect. For a
gene that decreases fitness in the homozygous state to reach a prevalence
as high as is observed with the HFE mutations implies that heterozygotes have
a selective advantage, not a disadvantage. Thus, one must resist the temptation to believe that the association
that has been observed is one of cause and effect.
If a cause-and-effect relationship existed, one would expect the age
effect reported by Bathum et al1 to exist
in other populations. We have therefore examined the prevalence of the C282Y
mutation found . . . [Full Text of this Article]
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