Detection of Disease-Associated Deletions in Case-Control Studies Using SNP Genotypes

• Activity Number: 411
• Type: Topic Contributed
• Date/Time: Wednesday, August 5, 2009 : 8:30 AM to 10:20 AM
• Sponsor: Biometrics Section
• Author(s): Chih-Chieh Wu*+
• Companies: The University of Texas M.D. Anderson Cancer Center
• Keywords: genomic deletion ; whole-genome genetic studies ; case-control studies ; cluster analyses

Abstract

Recent whole-genome genetic studies have shown that deletions can increase the risk for several psychiatric disorders, suggesting that genomic deletions play an important role in the genetic basis of complex traits. Likelihood-based statistical methods for identifying disease-associated deletions have recently been developed for familial studies of parent-offspring trios. The purpose of this study is to develop statistical approaches for detecting deletions associated with complex disease in case-control studies. Our methods are designed to be used with dense SNP genotypes in whole-genome genetic studies. Our proposed statistical methods are designed to be used in SNP-by-SNP analyses and in cluster analyses from multiple SNPs. We found that these methods are useful for detecting disease-associated deletions and are robust in the presence of linkage disequilibrium in simulation studies.