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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Autores principales:	Kevin K. Esoh, Tobias O. Apinjoh, Steven G. Nyanjom, Ambroise Wonkam, Emile R. Chimusa, Lucas Amenga-Etego, Alfred Amambua-Ngwa, Eric A. Achidi
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/5b5ff81fec8c4ac78b3192daae6ec38b
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spelling	oai:doaj.org-article:5b5ff81fec8c4ac78b3192daae6ec38b2021-12-02T14:01:33ZFine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection10.1038/s41598-020-79124-12045-2322https://doaj.org/article/5b5ff81fec8c4ac78b3192daae6ec38b2021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-79124-1https://doaj.org/toc/2045-2322Abstract 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.Kevin K. EsohTobias O. ApinjohSteven G. NyanjomAmbroise WonkamEmile R. ChimusaLucas Amenga-EtegoAlfred Amambua-NgwaEric A. AchidiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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
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.
format	article
author	Kevin K. Esoh Tobias O. Apinjoh Steven G. Nyanjom Ambroise Wonkam Emile R. Chimusa Lucas Amenga-Etego Alfred Amambua-Ngwa Eric A. Achidi
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 Portfolio
publishDate	2021
url	https://doaj.org/article/5b5ff81fec8c4ac78b3192daae6ec38b
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Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection

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