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2017 ; 32
(suppl_2
): ii159-ii169
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Genetic epidemiology in kidney disease
#MMPMID28201750
Ainsworth HC
; Langefeld CD
; Freedman BI
Nephrol Dial Transplant
2017[Apr]; 32
(suppl_2
): ii159-ii169
PMID28201750
show ga
Familial aggregation of chronic kidney disease and its component
phenotypes-reduced glomerular filtration rate, proteinuria and renal histologic
changes-has long been recognized. Rates of severe kidney disease are also known
to differ markedly between populations based on ancestry. These epidemiologic
observations support the existence of nephropathy susceptibility genes. Several
molecular genetic technologies are now available to identify causative loci. The
present article summarizes available strategies useful for identifying
nephropathy susceptibility genes, including candidate gene association,
family-based linkage, genome-wide association and admixture mapping (mapping by
admixture linkage disequilibrium) approaches. Examples of loci detected using
these techniques are provided. Epigenetic studies and future directions are also
discussed. The identification of nephropathy susceptibility genes, coupled with
modifiable environmental triggers impacting their function, is likely to improve
risk prediction and transform care. Development of novel therapies to prevent
progression of kidney disease will follow.
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