Clinical Implications of Lipid Genetics for Cardiovascular Disease.
Clinical Implications of Lipid Genetics for Cardiovascular Disease.
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DOI：
10.1007/s12170-010-0131-7
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发表时间：
2010-10
影响因子：
1.9
通讯作者：
Rader, Daniel J
中科院分区：
文献类型：
--
作者：
Strong, Alanna;Rader, Daniel J
心血管疾病是发达国家发病率和死亡率的主要原因。流行病学数据支持动脉粥样硬化性心血管疾病（ASCVD）与低密度脂蛋白胆固醇（LDL-C）升高和高密度脂蛋白胆固醇（HDL-C）降低的密切关系。对血脂性状的人类遗传学研究，包括罕见的孟德尔疾病和常见变异，阐明了参与调节LDL-C和HDL-C水平的多个基因和途径。LDL-C极端孟德尔疾病和LDL-C相关常见基因变异的孟德尔随机化研究强烈支持LDL-C与ASCVD之间的因果关系，与机制无关。相反，HDL-C极端孟德尔疾病和HDL-C常见遗传变异的孟德尔随机化研究在支持HDL-C和ASCVD之间的因果关系方面不一致。与LDL-C相反，HDL-C和ASCVD之间的因果关系可能取决于导致HDL-C水平变化的特定机制。
Cardiovascular disease is the leading cause of morbidity and mortality in the developed world. Epidemiologic data support a strong relationship of atherosclerotic cardiovascular disease (ASCVD) with both elevated low-density lipoprotein cholesterol (LDL-C), and reduced high-density lipoprotein cholesterol (HDL-C). The study of the human genetics of plasma lipid traits, both rare Mendelian disorders as well as common variants, has illuminated multiple genes and pathways involved in the regulation of LDL-C and HDL-C levels. Mendelian disorders of extremes of LDL-C and Mendelian randomization studies of common gene variants associated with LDL-C strongly support a causal relationship between LDL-C and ASCVD, independent of mechanism. In contrast, Mendelian disorders of extremes of HDL-C and Mendelian randomization studies of common genetic variants for HDL-C are inconsistent in their support of a causal relationship between HDL-C and ASCVD. In contrast to LDL-C, a causal relationship between HDL-C and ASCVD may be dependent on the specific mechanism leading to variation in HDL-C levels.