Abstract

Doc number: 569

Abstract

Background: Although single-SNP analysis has proven to be useful in identifying many disease-associated loci, region-based analysis has several advantages. Empirically, it has been shown that region-based genotype and haplotype approaches may possess much higher power than single-SNP statistical tests. Both high quality haplotypes and genotypes may be available for analysis given the development of next generation sequencing technologies and haplotype assembly algorithms.

Results: As generally it is unknown whether genotypes or haplotypes are more relevant for identifying an association, we propose to use both of them with the purpose of preserving high power under both genotype and haplotype disease scenarios. We suggest two approaches for a combined association test and investigate the performance of these two approaches based on a theoretical model, population genetics simulations and analysis of a real data set.

Conclusions: Based on a theoretical model, population genetics simulations and analysis of a central corneal thickness (CCT) Genome Wide Association Study (GWAS) data set we have shown that combined genotype and haplotype approach has a high potential utility for applications in association studies.

Details

Title
Combined genotype and haplotype tests for region-based association studies
Author
Zakharov, Sergii; Wong, Tien Yin; Aung, Tin; Vithana, Eranga Nishanthie; Khor, Chiea Chuen; Salim, Agus; Thalamuthu, Anbupalam
Publication year
2013
Publication date
2013
Publisher
BioMed Central
e-ISSN
14712164
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
1442257894
Copyright
© 2013 Zakharov et al.; licensee 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.