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人类全基因组关联研究的进展和挑战

Peter Donnelly¹

¹Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. peter.donnelly@well.ox.ac.uk

|December 17, 2008

概括

全基因组关联研究正在推动对常见人类疾病的理解. 这项研究有助于识别与疾病相关的遗传变异,为改善治疗和预防策略铺平了道路.

科学领域:

遗传学是一个遗传学.
人类疾病人类疾病
医学研究医学研究

背景情况:

十多年来,了解人类常见疾病的遗传基础一直是一个重大挑战.
之前的研究在确定复杂疾病的特定遗传贡献方面遇到了局限性.

研究的目的:

突出解读人类常见疾病的遗传基础的进展.
强调全基因组关联研究在这个领域的发展中的作用.

主要方法:

利用全基因组关联研究 (GWAS) 来分析整个基因组的遗传变异.
关联特定基因变异在特定的基因位点与不同的疾病表型.

主要成果:

全基因组关联研究已经成功地确定了与常见人类疾病相关的众多遗传变异.
这些研究克服了以前的研究瓶,使得重要的遗传发现成为可能.

结论:

遗传关联数据对于理解疾病病因至关重要.
这项研究为开发改进的疾病治疗和预防策略提供了新的途径.

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