A tutorial in genetic epidemiology and some considerations in statistical modeling.

A tutorial in genetic epidemiology and some considerations in statistical modeling.
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DOI:
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发表时间:
2007
影响因子:
0.5
通讯作者:
E. Suárez;C. Sariol;A. Burguete;G. McLachlan
E. Suárez;C. Sariol;A. Burguete;G. McLachlan
中科院分区:
医学4区
文献类型:
--
作者:
E. Suárez;C. Sariol;A. Burguete;G. McLachlan

文献摘要

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自2003年人类基因组图谱公布以来,一扇新的大门向卫生专业人员打开了,恰逢沃森和克里克在1953年发现DNA螺旋结构50周年。技术的不断更新使科学家能够同时分析数千个变量进行基因组分析。这些进展为定位基因、评估基因-基因关系、测量基因-环境相互作用、描述基因产物以及评估基因-疾病关系创造了新的机会。在流行病学方面,已经发展了新的策略来确定病例对照研究和队列研究中的因果关系。利用人类基因组计划提供的信息,制定了新的流行病学设计和新的统计方法。分子生物学与传统流行病学方法的结合催生了一门新学科,即遗传流行病学。本文的目的是提供一个概念的介绍,需要评估基因和特定疾病之间的关联,在人口为基础的研究。首先,遗传概念的描述作为一个框架的流行病学设计和统计程序,已被用于遗传流行病学。然后,介绍了遗传流行病学中的不同设计与最新出版物。最后讨论了遗传流行病学统计分析中的一些问题。
A new door has been opened to health professionals since the completion of the map of the human genome was announced in 2003, coinciding with the 50th anniversary of the discovery of the DNA helical structure by Watson and Crick in 1953. The continuous updating of the technology has enabled scientists to simultaneously analyze thousands of variables for genome analysis. These advances have created new opportunities to locate genes, to assess the gene-gene relationship, to measure the gene-environment interaction, to describe gene products, and to evaluate the gene-disease relationship. In epidemiology, new strategies have been developed to determine cause-effect relationship in case-control studies and cohort studies. With the information provided by the Human Genome Project, new epidemiological designs and new statistical methodology have been developed. The addition of molecular biology to traditional epidemiological approaches has given birth to a new discipline known as genetic epidemiology. The objective of this paper is to provide an introduction to concepts needed for assessing the association between genes and specific diseases in population based studies. Firstly, a description of the genetic concepts is presented as a framework for the epidemiological designs and the statistical procedures that have been utilized in genetic epidemiology. Then, a description of the different designs in genetic epidemiology is presented with the most recent publications. Finally, some considerations in the statistical analysis for genetic epidemiology are discussed.