Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/104222
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Type: | Journal article |
Title: | Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53 |
Author: | Duffy, D.L. McDonald, S.P. Hayhurst, B. Panagiotopoulos, S. Smith, T.J. Wang, X.L. Wilcken, D.E. Duarte, N.L. Mathews, J. Hoy, W.E. |
Citation: | BMC Nephrology, 2016; 17(1):183-1-183-10 |
Publisher: | BioMed Central |
Issue Date: | 2016 |
ISSN: | 1471-2369 1471-2369 |
Statement of Responsibility: | David L. Duffy, Stephen P. McDonald, Beverley Hayhurst, Sianna Panagiotopoulos, Trudy J. Smith, Xing L. Wang, David E. Wilcken, Natalia L. Duarte, John Mathews and Wendy E. Hoy |
Abstract: | BACKGROUND: Aboriginal Australians are at high risk of cardiovascular, metabolic and renal diseases, resulting in a marked reduction in life expectancy when compared to the rest of the Australian population. This is partly due to recognized environmental and lifestyle risk factors, but a contribution of genetic susceptibility is also likely. METHODS: Using results from a comprehensive survey of one community (N = 1350 examined individuals), we have tested for familial aggregation of plasma glucose, arterial blood pressure, albuminuria (measured as urinary albumin to creatinine ratio, UACR) and estimated glomerular filtration rate (eGFR), and quantified the contribution of variation at four candidate genes (ACE; TP53; ENOS3; MTHFR). RESULTS: In the subsample of 357 individuals with complete genotype and phenotype data we showed that both UACR (h(2) = 64%) and blood pressure (sBP h(2) = 29%, dBP, h(2) = 11%) were significantly heritable. The ACE insertion-deletion (P = 0.0009) and TP53 codon72 polymorphisms (P = 0.003) together contributed approximately 15% of the total heritability of UACR, with an effect of ACE genotype on BP also clearly evident. CONCLUSIONS: While the effects of the ACE insertion-deletion on risk of renal disease (especially in the setting of diabetes) are well recognized, this is only the second study to implicate p53 genotype as a risk factor for albuminuria - the other being an earlier study we performed in a different Aboriginal community (McDonald et al., J Am Soc Nephrol 13: 677-83, 2002). We conclude that there are significant genetic contributions to the high prevalence of chronic diseases observed in this population. |
Keywords: | Albuminuria Epidemiology Genetics Heritability |
Rights: | © The Author(s). 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
DOI: | 10.1186/s12882-016-0396-2 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/921134 http://purl.org/au-research/grants/nhmrc/951250 http://purl.org/au-research/grants/nhmrc/951342 http://purl.org/au-research/grants/nhmrc/511081 |
Published version: | http://dx.doi.org/10.1186/s12882-016-0396-2 |
Appears in Collections: | Aurora harvest 7 Public Health publications |
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