Dynamic relationships between the genome and exposures to environments as causes of common human diseases.

Dynamic relationships between the genome and exposures to environments as causes of common human diseases.
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基因组与环境暴露之间的动态关系是人类常见疾病的原因。

DOI:
10.1159/000081252
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发表时间:
2004
影响因子:
--
通讯作者:
Kardia,SharonLR
Kardia,SharonLR
中科院分区:
医学4区
文献类型:
--
作者:
Sing,CharlesF;Stengard,JariH;Kardia,SharonLR

文献摘要

被引文献

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常见的慢性多因素疾病对医疗服务的需求最大[2-4]。在西方化的社会中,它们也是造成人类生命和生产力损失的最大原因[5-8]。这些疾病,包括心血管疾病(CVD)、癌症、糖尿病和精神疾病,通常在家庭中聚集,但它们不作为孟德尔单基因疾病分开。疾病在个体、家庭和人群中的分布是许多易感基因与许多环境暴露之间相互作用分布的直接结果,这些相互作用通过动态、表观遗传、调节机制最终整合形成疾病表型[9-19]。营养供应、身体活动、接触烟草烟雾和其他外源性人造化学品等环境因素对常见慢性疾病病因的单独影响已得到广泛研究。评估遗传变异在这些多因素疾病的病因学中的作用是最困难的挑战
Common chronic multifactorial diseases are responsible for the greatest demand on medical services [2–4]. They also make the largest contribution to loss of human life and productivity in westernized societies [5–8]. Deviations from health attributable to these diseases, which include cardiovascular disease (CVD), cancer, diabetes and the psychiatric disorders, typically aggregate in families but they do not segregate as Mendelian single-gene disorders. The distribution of disease among individuals, families and populations is a direct consequence of the distribution of interactions between the effects of many susceptibility genes and many environmental exposures that through dynamic, epigenetic, regulatory mechanisms, ultimately become integrated to generate the disease phenotype [9–19]. The separate impact of environmental factors such as nutrient supply, physical activity and exposure to tobacco smoke and other exogenous man made chemicals on the etiology of common chronic diseases has been widely studied. The evaluation of the role of genetic variation in the etiology of such multifactorial diseases presents the most difficult challenge