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dc.contributor.authorCox, Amanda J.
dc.contributor.authorMoscovis, Sophia M.
dc.contributor.authorBlackwell, C. Caroline
dc.contributor.authorScott, Rodney J.
dc.date.accessioned2017-06-20T00:29:05Z
dc.date.available2017-06-20T00:29:05Z
dc.date.issued2014
dc.identifier.issn1753-4259
dc.identifier.doi10.1177/1753425913498911
dc.identifier.urihttp://hdl.handle.net/10072/340388
dc.description.abstractThe health profile of Indigenous Australians is characterised by high rates of classic ‘lifestyle’ diseases. Potential roles of inflammation in pathophysiology of these diseases requires investigation. It is not clear if genetic regulation of inflammation in Indigenous Australians is similar to other populations. This study characterised frequencies of single nucleotide polymorphisms (SNPs) for eight cytokine genes for 100 individuals from a remote Indigenous Australian community and assessed novel genetic variants in four cytokine genes. We used a commercially-available allelic discrimination assay for SNP genotyping; re-sequencing was undertaken by standard Sanger sequencing methodologies for 26 samples. Frequencies of cytokine gene SNPs differed significantly from the Caucasian population (P < 0.001−0.044). Twenty-five novel variants were identified across four re-sequenced genes; frequencies ranged from <5% to 100%. Genotype frequencies observed in Indigenous Australians did not consistently resemble reported HapMap frequencies in Northern and Western European populations, Yoruba Nigerian or Han Chinese. Our findings indicate Indigenous Australians might have an inherited propensity for strong inflammatory responses. Preliminary evidence of novel genetic variants highlights the need to catalogue the extent of genetic variation in specific population groups. Improved understanding of differences in genetic variation between specific population groups could assist in assessment of risk for lifestyle diseases.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherSage Science Press (UK)
dc.relation.ispartofpagefrom431
dc.relation.ispartofpageto439
dc.relation.ispartofissue4
dc.relation.ispartofjournalInnate Immunity
dc.relation.ispartofvolume20
dc.subject.fieldofresearchBiochemistry and Cell Biology not elsewhere classified
dc.subject.fieldofresearchBiochemistry and Cell Biology
dc.subject.fieldofresearchMicrobiology
dc.subject.fieldofresearchImmunology
dc.subject.fieldofresearchcode060199
dc.subject.fieldofresearchcode0601
dc.subject.fieldofresearchcode0605
dc.subject.fieldofresearchcode1107
dc.titleCytokine gene polymorphism among Indigenous Australians
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.hasfulltextNo Full Text
gro.griffith.authorCox, Amanda J.


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