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首页> 外文期刊>Translational research: the journal of laboratory and clinical medicine >HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study.
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HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study.

机译：HFE C282Y纯合子降低了低密度脂蛋白胆固醇：社区的动脉粥样硬化风险（ARIC）研究。

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Recent studies have raised questions about the long-term health risks for individuals with mutations in the HFE gene, although previous studies may have been plagued by selection bias or lack of population-based comparison groups. We examined cardiovascular disease risk factors and iron and liver biomarkers, as well as morbidity and mortality associated with the C282Y and H63D variants of HFE in the Atherosclerosis Risk in Communities (ARIC) study, which is a population-based cohort of nearly 16,000 U.S. white and black men and women who were 45-64 years old at baseline. Subjects were followed for an average of 15 years for death, incident coronary heart disease, stroke, and heart failure, and an average of 8 years for incident diabetes. The prevalence of C282Y homozygosity was 0.42% (45/10,800) in whites, which is similar to other North American population-based studies. C282Y homozygotes had significantly lower mean low-density lipoprotein (LDL) cholesterol and fibrinogen as well as higher mean levels of iron (ferritin, transferrin saturation) and liver biomarkers (alanine aminotransferase, Hepascore) compared with HFE wild-type subjects. Rates of all-cause mortality, cardiovascular disease, and diabetes were similar across HFE genotypes. These prospective, population-based data indicate higher serum iron indices and possible mild liver dysfunction or disease in some C282Y homozygotes, but they provide little evidence that HFE C282Y or H63D mutations are related to all-cause mortality, cardiovascular disease, or diabetes. Reduced LDL in C282Y homozygotes may be because of effects of excess iron on cholesterol metabolism and lipoprotein formation in the liver.
机译：尽管以前的研究可能受到选择偏见或缺乏以人群为基础的对照组的困扰，但最近的研究提出了有关HFE基因突变个体的长期健康风险的疑问。在社区动脉粥样硬化风险研究（ARIC）中，我们检查了心血管疾病的危险因素和铁和肝生物标志物，以及与HFE的C282Y和H63D变体相关的发病率和死亡率，该研究是基于人群的近16,000名美国白人基线时年龄在45-64岁之间的黑人和女性。死亡，发生冠心病，中风和心力衰竭的平均随访时间为15年，而糖尿病的平均随访时间为8年。白人中C282Y纯合子的患病率为0.42％（45 / 10,800），这与其他基于北美人群的研究相似。与HFE野生型受试者相比，C282Y纯合子具有明显较低的平均低密度脂蛋白（LDL）胆固醇和纤维蛋白原，以及较高的平均铁水平（铁蛋白，转铁蛋白饱和度）和肝脏生物标志物（丙氨酸氨基转移酶，Hepascore）。 HFE基因型的全因死亡率，心血管疾病和糖尿病的发生率相似。这些基于人群的前瞻性数据表明某些C282Y纯合子具有较高的血清铁指数和可能的轻度肝功能障碍或疾病，但它们几乎没有提供证据表明HFE C282Y或H63D突变与全因死亡率，心血管疾病或糖尿病有关。 C282Y纯合子中LDL降低可能是由于过量铁对肝脏胆固醇代谢和脂蛋白形成的影响。

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