New Genetic Loci Associated With Chronic Kidney Disease in an Indigenous Australian Population

This study also displayed evidence of association of variants in ACE and TP53 with ACR. Here we describe a classical genome-wide association study (GWAS) of Tiwi Islanders in which we identified several loci associated with markers of renal disease. Two of these loci, single nucleotide polymorphisms (SNPs) rs443816 located in the gene encoding UGT2B11 and rs4016189 located in the gene encoding CRIM1, were also significantly associated with the renal disease phenotype in an independently sampled cohort. Materials and Methods Sample Collection In the 1990s, in close consultation with the Tiwi Land Council, the protocol was approved by the institutional ethics committee and written informed consent was obtained from all participants. Phenotype data were collected for 1492 samples, with sufficient DNA obtained for 249 samples. In 2013–2014, data were collected on a second cohort of 497 Tiwi Islander study participants. This study was carried out in accordance with the recommendations of the Human Ethics Committee (Tasmania) Network ethics reference number H0012832, and in conjunction with all institutional ethics committees of the research team and the Human Research Ethics Committee of the NT Department of Health and Menzies School of Health Research. Written informed consent was obtained from all participants. Participants donated blood and urine samples, resulting in good quality DNA samples for 492 individuals. Clinical data collected include: date of birth, gende...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research