Robertson Stephen P, Poulton Richie
Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Novartis Found Symp. 2008;293:128-37; discussion 138-42, 181-3. doi: 10.1002/9780470696781.ch10.
Prospective cohort studies are costly and time consuming yet appear to be the best means for understanding how genes interact with environmental risk factors to cause disease. This information is a necessary prerequisite for evidenced-based disease prevention, yet not all researchers agree about the importance of studying the interplay between genes and environments. They argue that we already know enough about which environmental 'exposures' can prevent most common diseases, for example, wholesome diet, adequate housing/income and access to good healthcare. Implicit is the notion that current disease categories (i.e. phenotypes) are 'real' and represent homogenous entities, and that identifying environmentally mediated risk is relatively straightforward. Other concerns relate to scientific basis, utility and ethics. These arguments are critically examined for a range of disorders, from diabetes, cancer and inflammatory bowel disease to depression. We refute the contention that incorporating the measurement of genotype into longitudinal-epidemiological studies is wasteful or unlikely to yield significant benefits.
前瞻性队列研究成本高昂且耗时,但似乎是了解基因如何与环境风险因素相互作用以引发疾病的最佳方法。这些信息是循证疾病预防的必要前提,但并非所有研究人员都认同研究基因与环境之间相互作用的重要性。他们认为,我们已经足够了解哪些环境“暴露因素”可以预防大多数常见疾病,例如健康的饮食、充足的住房/收入以及获得优质医疗保健的机会。隐含的观点是,当前的疾病类别(即表型)是“真实的”,代表同质实体,并且识别环境介导的风险相对简单直接。其他担忧涉及科学依据、实用性和伦理问题。针对从糖尿病、癌症、炎症性肠病到抑郁症等一系列疾病,对这些论点进行了批判性审视。我们反驳那种认为将基因型测量纳入纵向流行病学研究是浪费资源或不太可能产生显著益处的观点。