Rapid inexpensive genome-wide association using pooled whole blood
Rapid inexpensive genome-wide association using pooled whole blood
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DOI：
10.1101/gr.094680.109
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发表时间：
2009-11-01
期刊：
影响因子：
7
通讯作者：
MacGregor, Stuart
中科院分区：
文献类型：
--
作者：
Craig, Jamie E.;Hewitt, Alex W.;MacGregor, Stuart
全基因组关联研究（GWAS）现已成功识别出与许多人类特征和疾病相关的重要遗传变异。在大数据集中基因分型阵列的高成本仍然是GWAS更广泛利用的主要障碍。我们已经开发了一种新的方法，其中分别从病例和对照的全血，合并DNA提取前的基因分型。我们通过在以前未研究的队列中明确识别眼睛颜色、年龄相关性黄斑变性和假性剥脱综合征的相关变异来证明原理。血液池有可能将GWAS成本降低几个数量级，并大大缩短基因发现时间。这种方法对于将现代遗传学方法转化为GWAS尚未分析的多种疾病和特征具有深远的意义，并将使发展中国家能够参与GWAS。
Genome-wide association studies (GWAS) have now successfully identified important genetic variants associated with many human traits and diseases. The high cost of genotyping arrays in large data sets remains the major barrier to wider utilization of GWAS. We have developed a novel method in which whole blood from cases and controls, respectively, is pooled prior to DNA extraction for genotyping. We demonstrate proof of principle by clearly identifying the associated variants for eye color, age-related macular degeneration, and pseudoexfoliation syndrome in cohorts not previously studied. Blood pooling has the potential to reduce GWAS cost by several orders of magnitude and dramatically shorten gene discovery time. This method has profound implications for translation of modern genetic approaches to a multitude of diseases and traits yet to be analyzed by GWAS, and will enable developing nations to participate in GWAS.