Novel family-based approaches to genetic risk in thrombosis
Novel family-based approaches to genetic risk in thrombosis
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DOI：
10.1046/j.1538-7836.2003.00310.x
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发表时间：
2003-07-01
影响因子：
10.4
通讯作者：
Almasy, L
中科院分区：
文献类型：
--
作者：
Blangero, J;Williams, JT;Almasy, L
血栓形成的遗传基础复杂，涉及多个基因和环境因素。在过去的10年里，常见复杂疾病遗传学领域取得了巨大的进展，强大的新分子和分析策略的发展使致病遗传变异的定位和鉴定成为可能。在这些进步的过程中，一个主要的范式变化正在发生，即侧重于与疾病风险相关的可测量的定量性状的遗传分析，而不是以前强调的信息少得多的二分疾病性状的分析。由于它们更接近直接的基因作用，疾病相关的定量表型代表了我们识别影响疾病易感性的潜在数量性状位点（qtl）的最佳机会。当数据可以在大家庭中收集时，这种方法效果最好。不幸的是，基于家庭的设计在血栓/止血研究中仍然相对罕见。在这篇综述中，我们详细说明了为什么该领域将受益于更积极地追求现代基于家庭的基因研究的原因。
The genetic basis of thrombosis is complex, involving, multiple genes and environmental factors. The field of common complex disease genetics has progressed enormously over the past 10 years with the development of powerful new molecular and analytical strategies that enable localization and identification of the causative genetic variants. During the course of these advances, a major paradigmatic change has been taking place that focuses on the genetic analysis of measurable quantitative traits that are correlated with disease risk vs. the previous emphasis on the analysis of the much less informative dichotomous disease trait. Because of their closer proximity to direct gene action, disease-related quantitative phenotypes represent our best chance to identify the underlying quantitative trait loci (QTLs) that influence disease susceptibility. This approach works best when data can be collected on extended families. Unfortunately, farnily-based designs are still relatively rare in thrombosis/hemostasis studies. In this review, we detail the reasons why the field would benefit from a more vigorous pursuit of modem family-based genetic studies.