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Cytokine gene polymorphism among Indigenous Australians
Amanda J Cox1, Sophia M Moscovis, C Caroline Blackwell
11Faculty of Health, University of Newcastle, Newcastle, NSW, Australia.
Indigenous Australians exhibit distinct genetic variations in cytokine genes, potentially predisposing them to heightened inflammatory responses and lifestyle diseases. Further research is crucial for understanding population-specific genetic diversity.
Area of Science:
- Genetics
- Immunology
- Public Health
Background:
- Indigenous Australians experience high rates of chronic 'lifestyle' diseases.
- The role of inflammation in these diseases and its genetic regulation in Indigenous Australians requires investigation.
Purpose of the Study:
- To characterize single nucleotide polymorphism (SNP) frequencies for eight cytokine genes in Indigenous Australians.
- To identify novel genetic variants within four cytokine genes in this population.
Main Methods:
- Genotyping of 100 Indigenous Australians using an allelic discrimination assay for SNPs in eight cytokine genes.
- Re-sequencing of four cytokine genes in 26 individuals using Sanger sequencing to identify novel variants.
Main Results:
- Significant differences in cytokine gene SNP frequencies were observed compared to Caucasian populations (P < 0.001–0.044).
- Twenty-five novel genetic variants were identified across four cytokine genes, with frequencies varying widely.
- Observed genotype frequencies did not consistently align with HapMap data from European, Nigerian, or Chinese populations.
Conclusions:
- Indigenous Australians may possess an inherited predisposition to robust inflammatory responses.
- The identification of novel genetic variants underscores the need to document genetic diversity within specific populations.
- Understanding population-specific genetic variations can aid in assessing risks for lifestyle diseases.
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