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    Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53

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    Author
    Duffy, DL; McDonald, SP; Hayhurst, B; Panagiotopoulos, S; Smith, TJ; Wang, XL; Wilcken, DE; Duarte, NL; Mathews, J; Hoy, WE
    Date
    2016-11-21
    Source Title
    BMC Nephrology
    Publisher
    BMC
    University of Melbourne Author/s
    Panagiotopoulos, Sianna; Mathews, John; SMITH, TRUDY
    Affiliation
    Medicine and Radiology
    Melbourne School of Population and Global Health
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    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. (2016). Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53. BMC NEPHROLOGY, 17 (1), https://doi.org/10.1186/s12882-016-0396-2.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/257668
    DOI
    10.1186/s12882-016-0396-2
    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 (h2 = 64%) and blood pressure (sBP h2 = 29%, dBP, h2 = 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.

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