|
Activity Number:
|
428
|
|
Type:
|
Contributed
|
|
Date/Time:
|
Wednesday, August 9, 2006 : 10:30 AM to 12:20 PM
|
|
Sponsor:
|
Section on Statistics in Epidemiology
|
| Abstract - #307441 |
|
Title:
|
Feasibility of Genome-Wide Haplotype Association Studies with Small Sample Size and Sparsely Spaced SNPs
|
|
Author(s):
|
Shaokun Chuai*+ and Nandita Mitra and Nathan Ellis
|
|
Companies:
|
University of Pennsylvania and University of Pennsylvania and The University of Chicago
|
|
Address:
|
BAC 529C Blockley Hall, CCEB, Philadelphia, PA, 19104,
|
|
Keywords:
|
genome-wide scan ; haplotype analysis ; genetics epidemiology ; SNP
|
|
Abstract:
|
We investigated the feasibility of localizing disease genes using sparse genome-wide panels of SNPs in the Ashkenazi Jewish population taking advantage of large linkage disequilibrium (LD) blocks. We performed two trials: (a) autosomal recessive Bloom syndrome targeting the BLM gene (3258 SNPs; 10 cases; 31 controls) and (b) autosomal dominant hereditary nonpolyposis colorectal cancer targeting the MSH2 gene (8549 SNPS; 13 cases; 63 controls). We performed sliding-window haplotype analyses using a generalized linear models framework. In both trials, significant associations were detected for several multi-locus haplotypes which are within a few million base pair regions that contained the targeted disease genes. This work demonstrates the power of the LD mapping approach in an isolated population and its general applicability to the identification of novel cancer-causing genes.
|
