Stazi M A, Sampogna F
Laboratorio di Epidemiologia e Biostatistica, Istituto Superiore di Sanità, Rome, Italy.
Ann Ist Super Sanita. 1996;32(1):167-72.
Cancer is due to a damage at DNA level, either in the germline cells (in which case it is hereditary) or in the somatic cells, caused by gene mutations, spontaneous or due to environmental exposures. While epidemiologists have traditionally focused their attention on environmental risk factors, and geneticists have been mainly interested in rare hereditary cancers, the aim of genetic epidemiology is to look simultaneously at biological inherited susceptibility and environmental risk factors, with particular attention to possible gene-environmental interactions in the pathogenesis of the disease. Epidemiological approaches, in which target groups are populations or families, are briefly discussed in relation to their use, in the design of the studies, of genetic traits, measured either at DNA level or by gene products (proteins, enzymes, antigens).
癌症是由于DNA水平的损伤引起的,这种损伤发生在生殖细胞(在这种情况下是遗传性的)或体细胞中,是由基因突变导致的,这些突变可以是自发的,也可能是由于环境暴露。传统上,流行病学家主要关注环境风险因素,而遗传学家主要关注罕见的遗传性癌症,遗传流行病学的目的是同时研究生物遗传易感性和环境风险因素,尤其关注疾病发病机制中可能存在的基因-环境相互作用。本文简要讨论了流行病学方法,其研究对象是人群或家庭,并探讨了在研究设计中如何利用在DNA水平或通过基因产物(蛋白质、酶、抗原)测量的遗传特征。