Abstract
Evolutionary processes, including mutation, migration and natural selection, have influenced the prevalence and distribution of various disorders in humans. However, despite a few well-known examples, such as the APOL1 variants — which have undergone positive genetic selection for their ability to confer resistance to Trypanosoma brucei infection but confer a higher risk of chronic kidney disease — little is known about the effects of evolutionary processes that have shaped genetic variation on kidney disease. An understanding of basic concepts in evolutionary genetics provides an opportunity to consider how findings from ancient and archaic genomes could inform our knowledge of evolution and provide insights into how population migration and genetic admixture have shaped the current distribution and landscape of human kidney-associated diseases. Differences in exposures to infectious agents, environmental toxins, dietary components and climate also have the potential to influence the evolutionary genetics of kidneys. Of note, selective pressure on loci associated with kidney disease is often from non-kidney diseases, and thus it is important to understand how the link between genome-wide selected loci and kidney disease occurs in relation to secondary nephropathies.
Key points
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Kidney diseases that have an age of onset after the reproductive age (that is, most forms of chronic kidney disease) are unlikely to act as agents of natural selection for the elimination of disease-causing alleles because those alleles are successfully transmitted to successive generations.
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Several loci under natural selection owing to the protection they provide against infectious agents (for example, Trypanosoma brucei and Plasmodium falciparum) have an effect on the risk of kidney disease (APOL1-associated chronic kidney disease and sickle cell nephropathy, respectively).
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Loci that are under natural selection and that increase the risk of disorders that damage the kidney (such as diabetes mellitus and hypertension) may contribute to the risk of secondary nephropathies.
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Only a handful of genetic loci identified by genome-wide association studies as being associated with complex kidney diseases show evidence of natural selection in primates; however, many more of these loci show evidence of natural selection in human populations, suggesting that most selective events at kidney-associated loci occurred relatively recently in the evolution of the human species.
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Glossary
- Pleistocene epoch
-
A period from about 2.58 million years ago to 11,700 years ago. It is sometimes referred to as the Ice Age because it spanned the world’s most recent period of repeated glaciations.
- Populations
-
In the context of this manuscript, groups of individuals with historical limitations to gene flow, for example, imposed by geography, such that they can now be distinguished genetically from other groups.
- Genetic admixture
-
Interbreeding between individuals from two or more previously isolated populations, typically referred to as hybridization in non-human species.
- Genetic linkage
-
Tendency of DNA sequences that are physically close on a chromosome to be inherited together owing to a low probability of recombination during meiosis.
- Haplotypes
-
Sets of alleles in a region of DNA that are tightly linked and likely to be inherited together.
- Archaic humans
-
A grouping of genus Homo excluding anatomically modern Homo sapiens sapiens.
- Ancient human
-
Homo sapiens sapiens predating modern populations.
- Adaptation
-
Genetically determined trait that has evolved by natural selection to maintain or increase fitness in response to environment.
- Ancestry
-
Genetic similarity of individuals to previously isolated populations.
- Introgression
-
Transfer of alleles from one species to another when matings produce fertile hybrids.
- Ancestral haplotype
-
Haplotype prior to a specific mutational event.
- Derived haplotype
-
Haplotype after a specific mutational event.
- Admixture mapping
-
A technique for finding regions of the genome associated with diseases or traits that show differential risk by ancestry.
- Bottlenecks
-
An event in which the census population size is greatly reduced, resulting in a loss of low-frequency alleles.
- Population expansions
-
An event in which the census population size is increased, resulting in an excess of low-frequency alleles.
- O-acetyl-l-serine (OAS) cluster
-
A cluster of genes involved in the de novo biosynthesis of l-cysteine that are responsive to sulfur starvation.
- Vasomotor nephropathy
-
Decrease in glomerular capillary pressure that leads to acute kidney failure.
- Acclimatization
-
Physiological, anatomical or morphological changes within an individual made in response to environmental change.
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Adeyemo, A.A., Shriner, D., Bentley, A.R. et al. Evolutionary genetics and acclimatization in nephrology. Nat Rev Nephrol 17, 827–839 (2021). https://doi.org/10.1038/s41581-021-00483-7
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DOI: https://doi.org/10.1038/s41581-021-00483-7
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