The penetrance of hereditary hemochromatosis
The penetrance of hereditary hemochromatosis
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DOI：
10.1016/j.beha.2004.08.023
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发表时间：
2005-06-01
影响因子：
2.1
通讯作者：
Beutler, E
中科院分区：
文献类型：
--
作者：
Waalen, J;Nordestgaard, BG;Beutler, E
遗传性血色病最初被描述为一种罕见的铁超负荷疾病，导致肝脏疾病、糖尿病和皮肤古铜色变（“古铜色糖尿病”），此后，遗传性血色病经历了几次重新定义，导致对其患病率的估计大相径庭。在过去的十年中，在北方欧洲人群中发现与血色素沉着症相关的HFE基因的C282 Y多态性的相对较高的患病率，这表明该疾病可能比以前认为的要常见得多。然而，几个大的人群为基础的研究表明，C282 Y/C282 Y基因型的多态性是非常低的，这表明C282 Y纯合性是一个必要的，但不是足够的因素，在病因的疾病。研究现在集中在其他遗传和环境因素，包括酒精，可能有助于差异表达的C282 Y纯合性。
Since its original description as a rare disease of iron overload resulting in liver disease, diabetes mellitus, and bronzing of the skin ('bronze diabetes'), hereditary hemochromatosis has undergone several redefinitions leading to widely varying estimates of its prevalence. Over the last decade, the finding of a relatively high prevalence of the C282Y polymorphism of the HFE gene associated with hemochromatosis in Northern European populations suggested that the disease may be much more common than previously thought. However, several large population based studies have now shown that the penetrance of the C282Y/C282Y genotype is very low, indicating that C282Y homozygosity is a necessary but not sufficient factor in causation of the disease. Studies are now focusing on other genetic and environmental factors, including alcohol, that may contribute to differential expression of C282Y homozygosity.