Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection
Abstract Inferences from genetic association studies rely largely on the definition and description of the underlying populations that highlight their genetic similarities and differences. The clustering of human populations into subgroups (population structure) can significantly confound disease as...
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doaj-5b5ff81fec8c4ac78b3192daae6ec38b2021-01-17T12:34:41ZengNature Publishing GroupScientific Reports2045-23222021-01-0111111310.1038/s41598-020-79124-1Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selectionKevin K. Esoh0Tobias O. Apinjoh1Steven G. Nyanjom2Ambroise Wonkam3Emile R. Chimusa4Lucas Amenga-Etego5Alfred Amambua-Ngwa6Eric A. Achidi7Department of Biochemistry, Jomo Kenyatta University of Agriculture and TechnologyDepartment of Biochemistry and Molecular Biology, University of BueaDepartment of Biochemistry, Jomo Kenyatta University of Agriculture and TechnologyDivision of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, University of Cape TownDivision of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, University of Cape TownWest African Centre for Cell Biology of Infectious Pathogens, University of GhanaMedical Research Council Unit the Gambia at LSHTMDepartment of Biochemistry and Molecular Biology, University of BueaAbstract Inferences from genetic association studies rely largely on the definition and description of the underlying populations that highlight their genetic similarities and differences. The clustering of human populations into subgroups (population structure) can significantly confound disease associations. This study investigated the fine-scale genetic structure within Cameroon that may underlie disparities observed with Cameroonian ethnicities in malaria genome-wide association studies in sub-Saharan Africa. Genotype data of 1073 individuals from three regions and three ethnic groups in Cameroon were analyzed using measures of genetic proximity to ascertain fine-scale genetic structure. Model-based clustering revealed distinct ancestral proportions among the Bantu, Semi-Bantu and Foulbe ethnic groups, while haplotype-based coancestry estimation revealed possible longstanding and ongoing sympatric differentiation among individuals of the Foulbe ethnic group, and their Bantu and Semi-Bantu counterparts. A genome scan found strong selection signatures in the HLA gene region, confirming longstanding knowledge of natural selection on this genomic region in African populations following immense disease pressure. Signatures of selection were also observed in the HBB gene cluster, a genomic region known to be under strong balancing selection in sub-Saharan Africa due to its co-evolution with malaria. This study further supports the role of evolution in shaping genomes of Cameroonian populations and reveals fine-scale hierarchical structure among and within Cameroonian ethnicities that may impact genetic association studies in the country.https://doi.org/10.1038/s41598-020-79124-1 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kevin K. Esoh Tobias O. Apinjoh Steven G. Nyanjom Ambroise Wonkam Emile R. Chimusa Lucas Amenga-Etego Alfred Amambua-Ngwa Eric A. Achidi |
spellingShingle |
Kevin K. Esoh Tobias O. Apinjoh Steven G. Nyanjom Ambroise Wonkam Emile R. Chimusa Lucas Amenga-Etego Alfred Amambua-Ngwa Eric A. Achidi Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection Scientific Reports |
author_facet |
Kevin K. Esoh Tobias O. Apinjoh Steven G. Nyanjom Ambroise Wonkam Emile R. Chimusa Lucas Amenga-Etego Alfred Amambua-Ngwa Eric A. Achidi |
author_sort |
Kevin K. Esoh |
title |
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection |
title_short |
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection |
title_full |
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection |
title_fullStr |
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection |
title_full_unstemmed |
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection |
title_sort |
fine scale human genetic structure in three regions of cameroon reveals episodic diversifying selection |
publisher |
Nature Publishing Group |
series |
Scientific Reports |
issn |
2045-2322 |
publishDate |
2021-01-01 |
description |
Abstract Inferences from genetic association studies rely largely on the definition and description of the underlying populations that highlight their genetic similarities and differences. The clustering of human populations into subgroups (population structure) can significantly confound disease associations. This study investigated the fine-scale genetic structure within Cameroon that may underlie disparities observed with Cameroonian ethnicities in malaria genome-wide association studies in sub-Saharan Africa. Genotype data of 1073 individuals from three regions and three ethnic groups in Cameroon were analyzed using measures of genetic proximity to ascertain fine-scale genetic structure. Model-based clustering revealed distinct ancestral proportions among the Bantu, Semi-Bantu and Foulbe ethnic groups, while haplotype-based coancestry estimation revealed possible longstanding and ongoing sympatric differentiation among individuals of the Foulbe ethnic group, and their Bantu and Semi-Bantu counterparts. A genome scan found strong selection signatures in the HLA gene region, confirming longstanding knowledge of natural selection on this genomic region in African populations following immense disease pressure. Signatures of selection were also observed in the HBB gene cluster, a genomic region known to be under strong balancing selection in sub-Saharan Africa due to its co-evolution with malaria. This study further supports the role of evolution in shaping genomes of Cameroonian populations and reveals fine-scale hierarchical structure among and within Cameroonian ethnicities that may impact genetic association studies in the country. |
url |
https://doi.org/10.1038/s41598-020-79124-1 |
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