Cytokine gene polymorphism among Indigenous Australians

The 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.