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Review
. 2018 Oct-Dec;40(4):388-402.
doi: 10.1590/2175-8239-JBN-2017-0033. Epub 2018 Jul 26.

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

[Article in English, Portuguese]
Tobias August Siemens  1 , Miguel Carlos Riella  2 , Thyago Proença de Moraes  3 , Cristian Vidal Riella  4
Affiliations
Review

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

[Article in English, Portuguese]
Tobias August Siemens et al. J Bras Nefrol. 2018 Oct-Dec.

Abstract
in English, Portuguese

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.

Existem importantes diferenças na doença renal crônica entre caucasianos e afrodescendentes. Foi amplamente aceito que isso ocorreu devido a fatores socioeconômicos, mas estudos recentes mostraram que as variantes gênicas da apolipoproteína L-1 (APOL1) estão fortemente associadas à glomeruloesclerose segmentar e focal, nefropatia associada ao HIV, nefroesclerose hipertensiva e nefrite lúpica na população afrodescendente. Essas variantes chegaram à América do Sul através do tráfico intercontinental de escravos, e proporcionaram uma vantagem evolutiva aos portadores, protegendo contra formas de tripanossomíase, mas à custa de um maior risco de doença renal. O efeito das variantes não parece estar relacionado à sua concentração sérica, mas sim à sua ação local sobre os podócitos. Variantes de risco também são importantes no transplante renal, já que enxertos de doadores com variantes de risco apresentam pior sobrevida.

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Figures

Figure 1
Figure 1. World prevalence of the risk variant (at least one alelle).
See this image and copyright information in PMC

References

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