Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection.
Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection.
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喀麦隆三个地区的精细人类遗传结构揭示了间歇性的多样化选择。
DOI：
10.1038/s41598-020-79124-1
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发表时间：
2021-01-13
影响因子：
4.6
通讯作者：
Achidi EA
中科院分区：
文献类型：
--
作者：
Esoh KK;Apinjoh TO;Nyanjom SG;Wonkam A;Chimusa ER;Amenga-Etego L;Amambua-Ngwa A;Achidi EA
遗传关联研究的推论在很大程度上依赖于对潜在人群的定义和描述，这些人群突出了他们的遗传相似性和差异。将人类群体聚类为亚群（群体结构）可以显著混淆疾病关联。本研究调查了喀麦隆境内的精细尺度遗传结构，这可能是撒哈拉以南非洲疟疾全基因组关联研究中观察到的喀麦隆种族差异的基础。来自喀麦隆三个地区和三个民族的1073个个体的基因型数据进行了分析，使用遗传接近度的措施，以确定精细尺度的遗传结构。基于模型的聚类显示不同的祖先比例之间的班图，半班图和Foulbe族群，而单倍型为基础的共祖先估计显示可能长期和正在进行的同域分化的个体之间的Foulbe族群，他们的班图和半班图对应。基因组扫描在HLA基因区域发现了强烈的选择特征，证实了在巨大的疾病压力下，非洲人群对这一基因组区域的自然选择的长期知识。在六溴代二苯基因簇中也观察到了选择的特征，这是一个已知在撒哈拉以南非洲受到强烈平衡选择的基因组区域，因为它与疟疾共同进化。这项研究进一步支持了进化在塑造爱沙尼亚人群基因组中的作用，并揭示了爱沙尼亚种族之间和内部的精细层次结构，这可能会影响该国的遗传关联研究。
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.
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影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ
影响因子：
3.2
作者：
Dos Santos Francisco R;Buhler S;Nunes JM;Bitarello BD;França GS;Meyer D;Sanchez-Mazas A
通讯作者：
Sanchez-Mazas A
影响因子：
14.9
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
通讯作者：
Parkinson, Helen
影响因子：
16.6
作者：
Band, Gavin;Le, Quang Si;Kwiatkowski, Dominic P.
通讯作者：
Kwiatkowski, Dominic P.
影响因子：
7.7
作者：
Busby, George B. J.;Band, Gavin;Spencer, Chris C. A.
通讯作者：
Spencer, Chris C. A.