Khoury M J, Beaty T H, Cohen B H
Birth Defects and Genetic Diseases Branch, Centers for Disease Control and Prevention, Atlanta, GA 30333.
Genet Epidemiol. 1993;10(5):321-9. doi: 10.1002/gepi.1370100505.
Genetic epidemiology is a relatively new discipline that seeks to unravel the role of genetic factors and their interactions with environmental factors in the etiology of diseases, using population and family study approaches. To characterize the overall direction and emphasis of research strategies used in this field, we reviewed original research articles published in the journal Genetic Epidemiology since its inception in 1984 until the end of 1991. Of 259 published original articles, 92 (35%) focused primarily on methodologic/statistical developments, most commonly in the area of linkage analysis/gene mapping, and 167 (65%) articles were applied or data-derived. Only 42 articles (16%) were population studies, and 217 (84%) were family studies. Most family studies dealt with genetic analysis of pedigree data using segregation and linkage analyses. Of the 137 applied family studies, 73 (53%) were drawn from well-defined populations, and only 40 (29%) considered specific environmental factors in their analyses. These findings clearly indicate a rapid growth in the methodologic and statistical aspects of genetic epidemiology, and in the emphasis on family-based studies and genetic analysis methods. Further developments in genetic epidemiology will require greater integration of epidemiologic approaches of study design and analyses into population and family studies of disease etiology.
遗传流行病学是一门相对较新的学科，它试图利用人群和家系研究方法来阐明遗传因素及其与环境因素在疾病病因学中的作用。为了描述该领域所采用研究策略的总体方向和重点，我们回顾了自1984年创刊至1991年底发表在《遗传流行病学》杂志上的原创研究文章。在259篇已发表的原创文章中，92篇（35%）主要关注方法学/统计学的发展，最常见的是在连锁分析/基因定位领域，167篇（65%）文章是应用型或数据衍生型的。只有42篇文章（16%）是人群研究，217篇（84%）是家系研究。大多数家系研究使用分离分析和连锁分析对系谱数据进行遗传分析。在137项应用型家系研究中，73项（53%）来自明确界定的人群，只有40项（29%）在分析中考虑了特定的环境因素。这些发现清楚地表明，遗传流行病学在方法学和统计学方面以及在对基于家系的研究和遗传分析方法的重视方面迅速发展。遗传流行病学的进一步发展将需要把研究设计和分析的流行病学方法更多地整合到疾病病因学的人群和家系研究中。
