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dc.contributor.authorWei W
dc.contributor.authorHemani G
dc.contributor.authorHicks AA
dc.contributor.authorVitart V
dc.contributor.authorCabrera-Cardenas C
dc.contributor.authorNavarro P
dc.contributor.authorHuffman J
dc.contributor.authorHayward C
dc.contributor.authorKnott SA
dc.contributor.authorRudan I
dc.contributor.authorPramstaller PP
dc.contributor.authorWild SH
dc.contributor.authorWilson JF
dc.contributor.authorCampbell H
dc.contributor.authorDunlop MG
dc.contributor.authorHastie N
dc.contributor.authorWright AF
dc.contributor.authorHaley CS
dc.date.accessioned2018-10-30T10:53:17Z
dc.date.available2018-10-30T10:53:17Z
dc.date.issued2011
dc.identifier.issn1932-6203
dc.identifier.urihttp://dx.doi.org/10.1371/journal.pone.0023836
dc.identifier.urihttp://hdl.handle.net/10863/6752
dc.description.abstractGenome-wide association (GWA) studies have identified a number of loci underlying variation in human serum uric acid (SUA) levels with the SLC2A9 gene having the largest effect identified so far. Gene-gene interactions (epistasis) are largely unexplored in these GWA studies. We performed a full pair-wise genome scan in the Italian MICROS population (n = 1201) to characterise epistasis signals in SUA levels. In the resultant epistasis profile, no SNP pairs reached the Bonferroni adjusted threshold for the pair-wise genome-wide significance. However, SLC2A9 was found interacting with multiple loci across the genome, with NFIA-SLC2A9 and SLC2A9-ESRRAP2 being significant based on a threshold derived for interactions between GWA significant SNPs and the genome and jointly explaining 8.0% of the phenotypic variance in SUA levels (3.4% by interaction components). Epistasis signal replication in a CROATIAN population (n = 1772) was limited at the SNP level but improved dramatically at the gene ontology level. In addition, gene ontology terms enriched by the epistasis signals in each population support links between SUA levels and neurological disorders. We conclude that GWA epistasis analysis is useful despite relatively low power in small isolated populations.en_US
dc.language.isoenen_US
dc.rights
dc.titleCharacterisation of genome-wide association epistasis signals for serum uric acid in human population isolatesen_US
dc.typeArticleen_US
dc.date.updated2018-10-30T10:29:28Z
dc.language.isiEN-GB
dc.journal.titlePLoS ONE
dc.description.fulltextopenen_US


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