Yönal Oya, Hatirnaz Ozden, Akyüz Filiz, Ozbek Ugur, Demir Kadir, Kaymakoglu Sabahattin, Okten Atilla, Mungan Zeynel
Department of Gastroenterohepatology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Dig Dis Sci. 2007 Nov;52(11):3298-302. doi: 10.1007/s10620-006-9683-2. Epub 2007 Apr 5.
We aimed to determine the relationships between iron overload and HFE gene mutation in chronic liver disease in Turkey. One hundred thirteen chronic liver disease patients and 138 healthy controls were evaluated regarding their clinical, biochemical, and genetic parameters. Each group was divided into two subgroups according to transferrin saturation (TS) (45% and >45%). HFE gene mutation was analyzed by the PCR-RFLP method. C282Y homozygote, heterozygote, and wild-type mutation rates were 1.7%, 0%, and 98.3% in patients and 0%, 1.4%, and 98.6% in controls, respectively. H63D homozygote, heterozygote, and wild-type mutation rates were 1.8%, 24.7%, and 73.5% in patients and 1.4%, 24%, and 74.6% in controls, respectively. Mutation rates were not statistically different in patients with high and normal TS. Iron overload was positively correlated with biochemical activity and Child-Pugh score (P < 0.05). In multivariate analysis, H63D homozygotic mutation was an independent factor for the development of hepatocellular carcinoma (P = 0.004). We conclude that C282Y mutation is very rare in Turkey. Iron overload is not related to H63D mutation but is positively correlated with biochemical activity and Child-Pugh score in chronic liver diseases.
我们旨在确定土耳其慢性肝病中铁过载与HFE基因突变之间的关系。对113例慢性肝病患者和138例健康对照者的临床、生化和基因参数进行了评估。根据转铁蛋白饱和度（TS）（45%和>45%）将每组分为两个亚组。采用PCR-RFLP方法分析HFE基因突变。患者中C282Y纯合子、杂合子和野生型突变率分别为1.7%、0%和98.3%，对照组分别为0%、1.4%和98.6%。患者中H63D纯合子、杂合子和野生型突变率分别为1.8%、24.7%和73.5%，对照组分别为1.4%、24%和74.6%。TS高和正常的患者突变率无统计学差异。铁过载与生化活性和Child-Pugh评分呈正相关（P<0.05）。多因素分析显示，H63D纯合突变是肝细胞癌发生的独立因素（P=0.004）。我们得出结论，C282Y突变在土耳其非常罕见。铁过载与H63D突变无关，但与慢性肝病的生化活性和Child-Pugh评分呈正相关。
