Characterizing the Genetic Architecture of Chronic Kidney Disease in the Australia’s First Peoples Using Statistical Methods
Le résumé fourni par la source
Chronic kidney disease (CKD) poses a substantial health burden among Indigenous Australians, particularly the Tiwi people. This thesis investigates the genetic architecture of CKD in the Tiwi population using whole-genome sequencing. Genome-wide association analyses identified population-specific loci associated with kidney traits, including MEG3, TIAM2, RAB36, and MEIS2. Runs of homozygosity analyses demonstrated elevated autozygosity and suggested a recessive contribution to albuminuria risk, with regional signals implicating FTO/CRNDE. Rare-variant analyses identified gene-based associations involving PCLO, TSPYL1, CYP4F22, and GCM2 with kidney-related and metabolic traits. Together, these findings advance understanding of CKD genetics in a genetically distinct and understudied population.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Characterizing the Genetic Architecture of Chronic Kidney Disease in the Australia’s First Peoples Using Statistical Methods
- Date Crossref
- 05/02/2026
- Éditeur
- Queensland University of Technology
- Type
- dissertation
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.