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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Identifying darwinian selection acting on different human apol1 variants among diverse african populations
American Journal of Human Genetics, Volume 93, No. 1, Year 2013
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Description
Disease susceptibility can arise as a consequence of adaptation to infectious disease. Recent findings have suggested that higher rates of chronic kidney disease (CKD) in individuals with recent African ancestry might be attributed to two risk alleles (G1 and G2) at the serum-resistance-associated (SRA)-interacting-domain-encoding region of APOL1. These two alleles appear to have arisen adaptively, possibly as a result of their protective effects against human African trypanosomiasis (HAT), or African sleeping sickness. In order to explore the distribution of potential functional variation at APOL1, we studied nucleotide variation in 187 individuals across ten geographically and genetically diverse African ethnic groups with exposure to two Trypanosoma brucei subspecies that cause HAT. We observed unusually high levels of nonsynonymous polymorphism in the regions encoding the functional domains that are required for lysing parasites. Whereas allele frequencies of G2 were similar across all populations (3%-8%), the G1 allele was only common in the Yoruba (39%). Additionally, we identified a haplotype (termed G3) that contains a nonsynonymous change at the membrane-addressing-domain-encoding region of APOL1 and is present in all populations except for the Yoruba. Analyses of long-range patterns of linkage disequilibrium indicate evidence of recent selection acting on the G3 haplotype in Fulani from Cameroon. Our results indicate that the G1 and G2 variants in APOL1 are geographically restricted and that there might be other functional variants that could play a role in HAT resistance and CKD risk in African populations. © 2013 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3710747/bin/mmc1.pdf
Authors & Co-Authors
Ko, Wenya
United States, Philadelphia
University of Pennsylvania
Portugal, Fornelo e Vairao
Cibio - Centro de Investigação em Biodiversidade e Recursos Genéticos
Rajan, Prianka
United States, Philadelphia
University of Pennsylvania
Gomez, Felicia
United States, Philadelphia
University of Pennsylvania
United States, Washington, D.c.
Center for the Advanced Study of Human Paleobiology
Scheinfeldt, Laura
United States, Philadelphia
University of Pennsylvania
An, Ping
United States, Frederick
National Cancer Institute at Frederick
Winkler, Cheryl Ann
United States, Frederick
National Cancer Institute at Frederick
Froment, Alain
France, Paris
Museé de L'homme
Nyambo, Thomas B.
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Omar, Sabah Ahmed
Kenya, Nairobi
Kenya Medical Research Institute
Wambebe, Charles O.
Uganda, Kampala
International Biomedical Research in Africa
Ranciaro, Alessia
United States, Philadelphia
University of Pennsylvania
Hirbo, Jibril B.
United States, Philadelphia
University of Pennsylvania
Tishkoff, Sarah A.
United States, Philadelphia
University of Pennsylvania
Statistics
Citations: 13
Authors: 13
Affiliations: 8
Identifiers
Doi:
10.1016/j.ajhg.2013.05.014
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics
Noncommunicable Diseases
Study Locations
Cameroon