Absence of APOL1 risk alleles in a remote living Australian Aboriginal group with high rates of CKD, hypertension, diabetes, and cardiovascular disease

Hoy, Wendy E.; Kopp, Jeffrey B.; Mott, Susan A.; Winkler, Cornelia

doi:10.1016/j.kint.2016.11.031

Cited by 4 publications

(6 citation statements)

References 4 publications

(6 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…And finally, hepatocyte nuclear factor-1b (HNF 1b) mutations give rise to a syndrome that includes meganephronia (Bingham et al, 2001). Current findings suggest that the excess burden of kidney disease in African Americans is due to risk alleles in the APOL1 gene; however, these same risk alleles are not found in the Tiwi Islander community (Hoy et al, 2017).…”

Section: Introductionmentioning

confidence: 94%

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

et al. 2019

View full text Add to dashboard Cite

The common occurrence of renal disease in Australian Aboriginal populations such as Tiwi Islanders may be determined by environmental and genetic factors. To explore genetic contributions, we performed a genome-wide association study (GWAS) of urinary albumin creatinine ratio (ACR) in a sample of 249 Tiwi individuals with genotype data from a 370K Affymetrix single nucleotide polymorphism (SNP) array. A principal component analysis (PCA) of the 249 individual Tiwi cohort and samples from 11 populations included in phase III of the HapMap Project indicated that Tiwi Islanders are a relatively distinct and unique population with no close genetic relationships to the other ethnic groups. After adjusting for age and sex, the proportion of ACR variance explained 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 were nominally significantly associated with ACR ( p < 0.0005). A replication study of these SNPs was performed in an independent cohort of 497 individuals on the eight SNPs. Four of these SNPs were significantly associated with ACR in the replication sample ( p < 0.05), rs4016189 located near the CRIM1 gene ( p = 0.000751), rs443816 located in 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 significant after adjusting for multiple testing. A structural equation model (SEM) demonstrated that the rs4016189 SNP was not associated with other phenotypes such as estimated glomerular filtration rate (eGFR), diabetes, and blood pressure.

show abstract

Section: Introductionmentioning

confidence: 94%

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

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Studies have shown that the G1 allele is found in 20 to 22% of this population and the G2 allele in 13 to 15%, while 10 to 15% have two alleles. Other countries, such as Australia33 and India34, on the other hand, have studies showing absence of the HRG in their populations.…”

Section: Prevalence Studiesmentioning

confidence: 99%

APOL1 risk variants and kidney disease: what we know so far

Siemens

Riella²,

Riella

2018

J. Bras. Nefrol.

View full text Add to dashboard Cite

There are striking differences in chronic kidney disease between Caucasians and African descendants. It was widely accepted that this occurred due to socioeconomic factors, but recent studies show that apolipoprotein L-1 (APOL1) gene variants are strongly associated with focal segmental glomerulosclerosis, HIV-associated nephropathy, hypertensive nephrosclerosis, and lupus nephritis in the African American population. These variants made their way to South America trough intercontinental slave traffic and conferred an evolutionary advantage to the carries by protecting against forms of trypanosomiasis, but at the expense of an increased risk of kidney disease. The effect of the variants does not seem to be related to their serum concentration, but rather to local action on the podocytes. Risk variants are also important in renal transplantation, since grafts from donors with risk variants present worse survival.

show abstract

“…Differences in the lipid profiles of Indigenous Australians relative to those of other Australians have also been observed, potentially influencing the efficacy of certain therapeutics ( Hoy et al, 2017 ; Beks et al, 2019 ). Genetic predispositions have been implicated as factors influencing chronic mental health issues suffered by Indigenous Australians ( Hoy et al, 2017 ; Das et al, 2018 ; Thomson et al, 2019 ). At least 20% of the 121 FDA-recognized pharmacogenetic markers are considered to be relevant in clinical practice involving psychiatric drugs ( Currid and Mutsatsa, 2013 ; Butler, 2018 ; Nasir et al, 2018 ).…”

Section: Pharmacogenomics Of Australian Indigenous Populationsmentioning

confidence: 99%

“…Chronic diseases with a strong environmental and behavioral etiology, such as cardiovascular disease, hypertension, diabetes, obesity, chronic kidney disease, and depression, contribute to 80% of the mortality gap between Indigenous and non-Indigenous Australians under the age of 75 years (Tucci, 2011;Anderson et al, 2016). Kidneys from the Australian Indigenous individuals with no known kidney disease have been shown to have 30% fewer and significantly larger glomeruli than those from non-Indigenous individuals (Hoy et al, 2017;Thomson et al, 2019). Differences in the lipid profiles of Indigenous Australians relative to those of other Australians have also been observed, potentially influencing the efficacy of certain therapeutics (Hoy et al, 2017;Beks et al, 2019).…”

Section: Pharmacogenomics Of Australian Indigenous Populationsmentioning

confidence: 99%

“…Kidneys from the Australian Indigenous individuals with no known kidney disease have been shown to have 30% fewer and significantly larger glomeruli than those from non-Indigenous individuals (Hoy et al, 2017;Thomson et al, 2019). Differences in the lipid profiles of Indigenous Australians relative to those of other Australians have also been observed, potentially influencing the efficacy of certain therapeutics (Hoy et al, 2017;Beks et al, 2019). Genetic predispositions have been implicated as factors influencing chronic mental health issues suffered by Indigenous Australians (Hoy et al, 2017;Das et al, 2018;Thomson et al, 2019).…”

Section: Pharmacogenomics Of Australian Indigenous Populationsmentioning

confidence: 99%

See 1 more Smart Citation

The Gene-Drug Duality: Exploring the Pharmacogenomics of Indigenous Populations

Nagaraj

Toombs

2021

Front. Genet.

View full text Add to dashboard Cite

While pharmacogenomic studies have facilitated the rapid expansion of personalized medicine, the benefits of these findings have not been evenly distributed. Genomic datasets pertaining to Indigenous populations are sorely lacking, leaving members of these communities at a higher risk of adverse drug reactions (ADRs), and associated negative outcomes. Australia has one of the largest Indigenous populations in the world. Pharmacogenomic studies of these diverse Indigenous Australian populations have been hampered by a paucity of data. In this article, we discuss the history of pharmacogenomics and highlight the inequalities that must be addressed to ensure equal access to pharmacogenomic-based healthcare. We also review efforts to conduct the pharmacogenomic profiling of chronic diseases among Australian Indigenous populations and survey the impact of the lack of drug safety-related information on potential ADRs among individuals in these communities.

show abstract

Absence of APOL1 risk alleles in a remote living Australian Aboriginal group with high rates of CKD, hypertension, diabetes, and cardiovascular disease

Cited by 4 publications

References 4 publications

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

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

APOL1 risk variants and kidney disease: what we know so far

The Gene-Drug Duality: Exploring the Pharmacogenomics of Indigenous Populations

Contact Info

Product

Resources

About