Common heterozygous hemochromatosis gene mutations are risk factors for inflammation and fibrosis in chronic hepatitis C
Common heterozygous hemochromatosis gene mutations are risk factors for inflammation and fibrosis in chronic hepatitis C
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DOI：
10.1111/j.1478-3231.2004.0928.x
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发表时间：
2004-08-01
影响因子：
6.7
通讯作者：
Lammert, F
中科院分区：
文献类型：
--
作者：
Geier, A;Reugels, M;Lammert, F
背景：慢性丙型肝炎常与肝脏铁储备增加有关。血色病基因杂合突变是否影响纤维化进展仍有争议。因此，我们的目的是评估德国丙型肝炎患者HFE突变与肝脏炎症和纤维化阶段之间的关系。方法：对166例患者的肝活检进行炎症活动性（A0-4）和肝纤维化（F0-4）评分。通过LightCycler、限制性片段长度多态性分析或直接测序确定基因突变。结果如下：常见的HFE突变C282 Y和H63 D的频率为4.2%和21.3%，而最近描述的转铁蛋白受体2基因中的S65 C取代和Y250 X突变非常罕见。在回归分析中，C282 Y或H63 D突变的杂合子携带者显示显著性差异（P
Background: Chronic hepatitis C is frequently associated with increased hepatic iron stores. It remains controversial whether heterozygous mutations of hemochromatosis genes affect fibrosis progression. Therefore our aim was to assess associations between HFE mutations and hepatic inflammation and stage of fibrosis in German hepatitis C patients. Methods: Liver biopsies from 166 patients were scored for inflammatory activity (A0-4) and hepatic fibrosis (F0-4). Gene mutations were determined by LightCycler, restriction fragment length polymorphism analysis, or direct sequencing. Results: The frequencies of common HFE mutations C282Y and H63D are 4.2% and 21.3%, whereas the recently described S65C substitution and the Y250X mutation in the transferrin receptor 2 gene are very rare. In regression analysis, heterozygous carriers of C282Y or H63D mutations display significantly (P