Pathway-based joint effects analysis of rare genetic variants using Genetic Analysis Workshop 17 exon sequence data

BMC Proceedings

Proceedings

Wei Xu¹  Lu Cheng²  Xiang Xing³  Pingzhao Hu⁴  Andrew D Paterson⁵ 

[1] Dalla Lana School of Public Health, University of Toronto, Health Sciences Building, 155 College Street, M5T 3M7, Toronto, ON, Canada;Department of Biostatistics, Princess Margaret Hospital, 610 University Avenue, M5G 2M9, Toronto, ON, Canada;Department of Biostatistics, Princess Margaret Hospital, 610 University Avenue, M5G 2M9, Toronto, ON, Canada;Department of Computer Science and Statistics Department, University of Toronto, 40 St. George Street, M5S 2E4, Toronto, ON, Canada;The Centre for Applied Genomics (TCAG) and Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, M5G 1L7, Toronto, ON, Canada;The Centre for Applied Genomics (TCAG) and Program in Genetics and Genome Biology, The Hospital for Sick Children, 101 College Street, M5G 1L7, Toronto, ON, Canada;Dalla Lana School of Public Health, University of Toronto, Health Sciences Building, 155 College Street, M5T 3M7, Toronto, ON, Canada;

关键词: Vascular Endothelial Growth Factor;    Rare Variant;    Causal Gene;    Genetic Risk Score;    Genetic Analysis Workshop;   

DOI  :  10.1186/1753-6561-5-S9-S45

来源: Springer

【 摘 要 】

Pathway-based analysis has been recently used in joint tests of association between disease and a group of common genetic variants. Here we explore this idea for the joint effects analysis of rare genetic variants and their association with quantitative traits and disease. We accumulate multiple rare minor alleles in a genetic risk score for each individual in a given pathway; this score is then used to assess association with quantitative phenotypes and disease. We demonstrate that this approach may be better than studying single rare variants or a gene risk score for identifying individuals with significantly greater risk.

【 授权许可】

Unknown   
© Hu et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.