How to Use an Article About Genetic Association A: Background Concepts
How to Use an Article About Genetic Association A: Background Concepts
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DOI：
10.1001/jama.2008.901
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发表时间：
2009-01-07
影响因子：
120.7
通讯作者：
Guyatt, Gordon
中科院分区：
文献类型：
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作者：
Attia, John;Ioannidis, John P. A.;Guyatt, Gordon
这是一系列3篇文章中的第一篇，作为对希望阅读和批判性评价遗传关联研究的临床医生的介绍。我们总结了遗传学中的关键概念，临床医生必须了解这些研究，包括DNA的结构，转录和翻译，遗传模式，哈代-温伯格平衡，连锁不平衡。我们综述了DNA变异的类型，包括单核苷酸多态性（SNP）、插入和缺失，以及这些变异如何影响蛋白质功能。我们介绍了单个候选基因和全基因组关联研究的遗传关联的想法，其中测试了数千种遗传变异与疾病的关联。我们使用APOE多态性及其与痴呆症的关联作为案例研究来展示概念并介绍该领域使用的术语。第二篇和第三篇文章将重点讨论有效性和适用性问题。
This is the first in a series of 3 articles serving as an introduction to clinicians wishing to read and critically appraise genetic association studies. We summarize the key concepts in genetics that clinicians must understand to review these studies, including the structure of DNA, transcription and translation, patterns of inheritance, Hardy- Weinberg equilibrium, and linkage disequilibrium. We review the types of DNA variation, including single- nucleotide polymorphisms ( SNPs), insertions, and deletions, and how these can affect protein function. We introduce the idea of genetic association for both single-candidate gene and genome- wide association studies, in which thousands of genetic variants are tested for association with disease. We use the APOE polymorphism and its association with dementia as a case study to demonstrate the concepts and introduce the terminology used in this field. The second and third articles will focus on issues of validity and applicability.