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New genetic loci associated with chronic kidney disease in an indigenous Australian population


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Thomson, RJ, McMorran, B, Hoy, W, Jose, M ORCID: 0000-0002-9589-0071, Whittock, L, Thornton, T, Burgio, G, Mathews, JD and Foote, S 2019 , 'New genetic loci associated with chronic kidney disease in an indigenous Australian population' , Frontiers in Genetics, vol. 10 , pp. 1-12 , doi: 10.3389/fgene.2019.00330.

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The common occurrence of renal disease in Australian Aboriginal populations such asTiwi Islanders may be determined by environmental and genetic factors. To exploregenetic contributions, we performed a genome-wide association study (GWAS) ofurinary albumin creatinine ratio (ACR) in a sample of 249 Tiwi individuals with genotypedata from a 370K Affymetrix single nucleotide polymorphism (SNP) array. A principalcomponent analysis (PCA) of the 249 individual Tiwi cohort and samples from11 populations included in phase III of the HapMap Project indicated that Tiwi Islandersare a relatively distinct and unique population with no close genetic relationships to theother ethnic groups. After adjusting for age and sex, the proportion of ACR varianceexplained by the 370K SNPs was estimated to be 37% (using the software GCTA.31;likelihood ratio = 8.06, p-value = 0.002). The GWAS identified eight SNPs that werenominally significantly associated with ACR (p p CRIM1 gene (p = 0.000751), rs443816 locatedin the gene encoding UGT2B11 (p = 0.022), rs6461901 located near the NFE2L3 gene,and rs1535656 located in the RAB14 gene. The SNP rs4016189 was still significantafter adjusting for multiple testing. A structural equation model (SEM) demonstratedthat the rs4016189 SNP was not associated with other phenotypes such as estimatedglomerular filtration rate (eGFR), diabetes, and blood pressure.

Item Type: Article
Authors/Creators:Thomson, RJ and McMorran, B and Hoy, W and Jose, M and Whittock, L and Thornton, T and Burgio, G and Mathews, JD and Foote, S
Keywords: chronic kidney disease, genome-wide association study, Australian Aboriginal and Torres Strait Islanders, indigenous genetics, gene–environment interaction, urinary albumin creatinine ratio
Journal or Publication Title: Frontiers in Genetics
Publisher: Frontiers Research Foundation
ISSN: 1664-8021
DOI / ID Number: 10.3389/fgene.2019.00330
Copyright Information:

Copyright 2019 the authors. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

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