The genetics of coronary heart disease: The contribution of twin studies
The genetics of coronary heart disease: The contribution of twin studies
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DOI：
10.1375/twin.6.5.432
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发表时间：
2003-10-01
期刊：
影响因子：
--
通讯作者：
Boomsma, DI
中科院分区：
文献类型：
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作者：
Evans, A;van Baal, GCM;Boomsma, DI
尽管许多欧洲国家的冠心病发病率有所下降，但这一疾病仍然是一个巨大的公共卫生问题。虽然我们对冠心病的环境风险因素了解很多，但遗传因素在很久以前就被认识到了。关于我们的遗传结构如何决定心血管风险的最早和最著名的例子与脂蛋白(a)、家族性高胆固醇血症和载脂蛋白e有关。在过去的20年里，对相当数量的多态性进行了单独评估，显示出与该疾病有很强的关联，但大多数多态性的可重复性很差。双胞胎构成了一个令人信服的自然实验，以确定遗传对冠心病及其危险因素的贡献。GenomEUtwin是欧洲共同体最近资助的一项框架5计划，它提供了比较不同欧洲双胞胎登记中风险因素的遗传性的机会。为了说明这一点，我们根据来自六个不同欧洲国家和澳大利亚的4000多对双胞胎的数据，展示了收缩压和舒张压的遗传性。收缩压的遗传率在52%到66%之间，舒张压的遗传率在44%到66%之间。在遗传力估计中，没有证据表明存在性别差异，也几乎没有证据表明共同的家庭环境有重大贡献。一项基于非双胞胎的冠心病和中风的前瞻性病例/队列研究（MORGAM）将允许在双胞胎队列中产生的与心血管疾病相关的假设在成人人群中进行前瞻性检验。双胞胎研究也有助于我们对生命历程假说的理解，而GenomEUtwin有可能在这方面有所补充。
Despite the decline in coronary heart disease in many European countries, the disease remains an enormous public health problem. Although we know a great deal about environmental risk factors for coronary heart disease, a heritable component was recognized a long time ago. The earliest and best known examples of how our genetic constitution may determine cardiovascular risk relate to lipoprotein(a), familial hypercholesterolaemia and apolipoprotein E. In the past 20 years a fair number of polymorphisms assessed singly have shown strong associations with the disease but most are subject to poor repeatability. Twins constitute a compelling natural experiment to establish the genetic contribution to coronary heart disease and its risk factors. GenomEUtwin, a recently funded Framework 5 Programme of the European Community, affords the opportunity of comparing the heritability of risk factors in different European Twin Registries. As an illustration we present the heritabilities of systolic and diastolic blood pressure, based on data from over 4000 twin pairs from six different European countries and Australia. Heritabilities for systolic blood pressure are between 52 and 66% and for diastolic blood pressure between 44 and 66%. There is no evidence of sex differences in heritability estimates and very little to no evidence for a significant contribution of shared family environment. A non-twin based prospective case/cohort study of coronary heart disease and stroke (MORGAM) will allow hypotheses relating to cardiovascular disease, generated in the twin cohorts, to be tested prospectively in adult populations. Twin studies have also contributed to our understanding of the life course hypothesis, and GenomEUtwin has the potential to add to this.