Khoury M J, Beaty T H, Cohen B H
Genet Epidemiol. 1986;3(4):269-77. doi: 10.1002/gepi.1370030407.
To evaluate the extent of interaction between genetics and epidemiology in studies reported in the literature, we reviewed all the "familial/genetic" papers published in a standard epidemiology journal (American Journal of Epidemiology, AJE) and all the "epidemiology" papers published in a standard human genetics journal (American Journal of Human Genetics, AJHG) between 1966 and 1984. A variety of medline subject headings were used in this search. Computerized listings of titles, subject headings, and abstracts were reviewed. It could be shown that familial/genetic papers constituted 4.3% of all papers published in AJE and epidemiology papers constituted 16.4% of papers published in AJHG. Over time, familial/genetic studies published in AJE increased both in number and in proportion of all papers, and more family studies are using complex statistical genetic techniques. On the other hand, epidemiology papers published in AJHG did not increase in number over time, and actually decreased in relation to all papers. These papers were mostly either descriptive (eg, defining frequencies of Mendelian traits in populations) or analytical (eg, defining risk factors for chromosomal abnormalities, and other reproductive outcomes). This analysis suggests that epidemiologic methods have been widely used in the genetic literature, and that genetic methods are gaining more access to the recent epidemiology literature. Because of increasing recognition of the role of genetic factors in disease, there is a growing need to incorporate both genetic and epidemiologic methods in etiologic studies of complex disorders.
为评估文献报道的研究中遗传学与流行病学之间的相互作用程度，我们回顾了1966年至1984年间在一本标准流行病学杂志（《美国流行病学杂志》，AJE）上发表的所有“家族性/遗传性”论文，以及在一本标准人类遗传学杂志（《美国人类遗传学杂志》，AJHG）上发表的所有“流行病学”论文。在此次检索中使用了多种医学主题词。对标题、主题词和摘要的计算机列表进行了审查。结果表明，家族性/遗传性论文占AJE发表的所有论文的4.3%，流行病学论文占AJHG发表论文的16.4%。随着时间的推移，在AJE上发表的家族性/遗传性研究在数量和占所有论文的比例上均有所增加，并且更多的家族研究正在使用复杂的统计遗传技术。另一方面，在AJHG上发表的流行病学论文数量并未随时间增加，实际上相对于所有论文还减少了。这些论文大多要么是描述性的（例如，确定人群中孟德尔性状的频率），要么是分析性的（例如，确定染色体异常和其他生殖结局的危险因素）。这一分析表明，流行病学方法已在遗传学文献中广泛应用，并且遗传学方法在最近的流行病学文献中的应用越来越多。由于对遗传因素在疾病中作用的认识不断提高，在复杂疾病的病因学研究中越来越需要将遗传和流行病学方法结合起来。
