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Incorporating biological knowledge in the search for gene x gene interaction in genome-wide association studies.


ABSTRACT: We sought to find significant gene x gene interaction in a genome-wide association analysis of rheumatoid arthritis (RA) by performing pair-wise tests of interaction among collections of single-nucleotide polymorphisms (SNPs) obtained by one of two methods. The first method involved screening the results of the genome-wide association analysis for main effects p-values < 1 x 10-4. The second method used biological databases such as the Gene Ontology and Kyoto Encyclopedia of Genes and Genomes to define gene collections that each contained one of four genes with known associations with RA: PTPN22, STAT4, TRAF1, and C5. We used a permutation approach to determine whether any of these SNP sets had empirical enrichment of significant interaction effects. We found that the SNP set obtained by t

SUBMITTER: Manning AK 

PROVIDER: S-EPMC2795984 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature