Evaluation of clustering and genotype distribution for replication in genome wide association studies: the age-related eye disease study.

ABSTRACT: Genome-wide association studies (GWASs) assess correlation between traits and DNA sequence variation using large numbers of genetic variants such as single nucleotide polymorphisms (SNPs) distributed across the genome. A GWAS produces many trait-SNP associations with low p-values, but few are replicated in subsequent studies. We sought to determine if characteristics of the genomic loci associated with a trait could be used to identify initial associations with a higher chance of replication in a second cohort. Data from the age-related eye disease study (AREDS) of 100,000 SNPs on 395 subjects with and 198 without age-related macular degeneration (AMD) were employed. Loci highly associated with AMD were characterized based on the distribution of genotypes, level of significance, and cluste

SUBMITTER: Edwards AO 

PROVIDER: S-EPMC2583911 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature