Cooper Richard S
Department of Preventive Medicine and Epidemiology, Loyola Stritch School of Medicine, 2160 South First Avenue, Maywood, IL 60153, USA.
Ann Intern Med. 2003 Sep 2;139(5 Pt 2):437-40. doi: 10.7326/0003-4819-139-5_part_2-200309021-00011.
Genetic epidemiology has greatly expanded its scope as a result of major technological innovations in the past decade. Laboratory capacity to determine DNA variation and archival information on the human genome sequence are now readily available. A wide range of research projects have been launched on chronic disease and health problems of aging, on the assumption that a better understanding of mechanisms will improve treatment and prevention. In many instances, the actions of genes are known to be modified by environmental conditions, and considerable emphasis has now been placed on finding specific interactions between genes and the environment. Studies in agriculture and animals provide clear empirical evidence on the importance of this concept. Describing gene-environment interactions in studies of humans is still very challenging, however, given the difficulties in study design and measurement. Despite the theoretical value of characterizing both intrinsic and extrinsic components of the causal process in the development of disease, the argument can also be made that main effects of each component separately are much more important. For these reasons, gene-environment interactions are likely to remain a conceptual framework for health research rather than a practical goal for the foreseeable future.
由于过去十年中的重大技术创新，遗传流行病学的范围得到了极大扩展。现在，确定DNA变异的实验室能力以及人类基因组序列的档案信息都已唾手可得。基于更好地理解发病机制将改善治疗和预防效果的假设，针对慢性病和衰老相关健康问题开展了广泛的研究项目。在许多情况下，已知基因的作用会受到环境条件的影响，现在人们相当重视寻找基因与环境之间的特定相互作用。农业和动物研究为这一概念的重要性提供了明确的实证证据。然而，鉴于研究设计和测量方面的困难，在人类研究中描述基因-环境相互作用仍然极具挑战性。尽管在疾病发生过程中表征因果过程的内在和外在成分具有理论价值，但也有人认为，每个成分单独的主要作用更为重要。出于这些原因，基因-环境相互作用在可预见的未来可能仍将是健康研究的一个概念框架，而非一个实际目标。
