Dekker Marieke C J, van Duijn Cornelia M
Department of Epidemiology and Biostatistics, Erasmus MC, Rotterdam, The Netherlands.
Eur J Epidemiol. 2003;18(7):607-16. doi: 10.1023/a:1024933620315.
Genetic epidemiology is a young but rapidly developing discipline. Although its early years were largely dedicated to family-based research in monogenic disorders, now genetic-epidemiologic research increasingly focuses on complex, multifactorial disorders. Along with the development of the human-genome map and advances in molecular technology grows the importance of genetic-epidemiologic applications. Large-scale population-based studies, requiring close integration of genetic and epidemiologic research, determine future research in the field. In this paper, we review the basic principles underlying genetic-epidemiologic research, such as molecular genetics and familial aggregation of disease, as well as the typical study approaches of genome screening and candidate-gene studies.
遗传流行病学是一门年轻但发展迅速的学科。尽管其早期主要致力于单基因疾病的基于家系的研究，但现在遗传流行病学研究越来越多地聚焦于复杂的多因素疾病。随着人类基因组图谱的绘制以及分子技术的进步，遗传流行病学应用的重要性日益增加。需要将遗传研究与流行病学研究紧密结合的大规模人群研究决定了该领域未来的研究方向。在本文中，我们回顾了遗传流行病学研究的基本原理，如分子遗传学和疾病的家族聚集性，以及基因组筛查和候选基因研究等典型的研究方法。
