Pajukanta P, Porkka K V
University of California, Los Angeles, Department of Human Genetics, Los Angeles, California, USA.
Curr Atheroscler Rep. 1999 Jul;1(1):79-86. doi: 10.1007/s11883-999-0053-3.
Complex disorders are caused by several environmental factors that interact with multiple genes. These diseases are common at the population level and constitute a major health problem in Western societies. Familial combined hyperlipidemia (FCHL) is characterized by elevated levels of serum total cholesterol, triglycerides, or both. This disorder is estimated to be common in Western populations with a prevalence of 1% to 2%. In addition, 14% of patients with premature coronary heart disease (CHD) have FCHL, making this disorder one of the most common genetic dyslipidemias underlying premature CHD. Both genetic and environmental factors are suggested to affect the complex FCHL phenotype, but no specific susceptibility genes to FCHL have been identified. It is hoped that further analysis of the first FCHL locus and other new loci obtained in genome-wide scans will guide us to genes predisposing to this complex disorder.
复杂疾病是由多种与多个基因相互作用的环境因素引起的。这些疾病在人群中很常见，是西方社会的一个主要健康问题。家族性混合型高脂血症（FCHL）的特征是血清总胆固醇、甘油三酯水平升高，或两者皆升高。据估计，这种疾病在西方人群中很常见，患病率为1%至2%。此外，14%的早发性冠心病（CHD）患者患有FCHL，这使得该疾病成为早发性CHD最常见的遗传性血脂异常之一。遗传和环境因素均被认为会影响复杂的FCHL表型，但尚未确定FCHL的特定易感基因。希望对首个FCHL基因座以及全基因组扫描中获得的其他新基因座进行进一步分析，能引导我们找到导致这种复杂疾病的基因。
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