A weighted accumulation test for associating rare genetic variation with quantitative phenotypes

BMC Proceedings

Proceedings

Glen A Satten¹  Chuanhua Xing²  Andrew S Allen² 

[1] Centers for Disease Control and Prevention, 1600 Clifton Road, 30333, Atlanta, GA, USA;Department of Biostatistics and Bioinformatics, Duke University, Box 2721, 2424 Erwin Road, Suite 1102 Hock Plaza, 27710, Durham, NC, USA;Duke Clinical Research Institute, Duke University, 2400 Pratt Street, 27705-3976, Durham, NC, USA;

关键词: Vascular Endothelial Growth Factor;    Gene Ontology;    Weighted Approach;    Genetic Analysis Workshop;    Vascular Endothelial Growth Factor Pathway;   

DOI  :  10.1186/1753-6561-5-S9-S6

来源: Springer

【 摘 要 】

Currently there is a great deal of interest in developing methods for testing the role that rare variation plays in disease development. Here we propose a weighted association test that accumulates genetic variation across a signaling pathway. We evaluate our approach by analyzing simulated phenotype data from an exome sequencing study of 697 unrelated individuals from the Genetic Analysis Workshop 17 (GAW17) data set. Although our weighted approach identifies several interesting pathways associated with phenotype Q1, so does an alternative unweighted accumulation approach. Such a result is not unexpected because there is no systematic relationship between the allele frequency of a variant and its effect on phenotype in the GAW17 simulation model.

【 授权许可】

Unknown   
© Xing 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.