Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.

Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa.
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DOI:
10.1016/j.ajhg.2022.07.013
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发表时间:
2022-09-01
影响因子:
9.8
通讯作者:
--
中科院分区:
生物学1区
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--
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非洲人口是世界上最多样化的,但在医学遗传学研究中却严重不足。在这里,我们研究了非洲人口的结构,使用遗传和全面的多代民族语言学数据,从非洲人口精神病研究(NeuroGAP精神病)的神经精神遗传学,包括900人来自埃塞俄比亚,肯尼亚,南非和乌干达。我们发现,自我报告的语言分类有意义地标记了仅考虑地理因素就会错过的潜在遗传变异,突出了文化在塑造遗传多样性方面的重要性。利用我们独特丰富的多代民族语言学元数据,我们通过谱系追踪语言传播,观察我们队列中多种语言的消失以及三代人中频率的显着变化。我们发现提示性的证据表明,母系群体的语言传播率高于父系群体。我们强调了非洲内部变异的多样性以及非洲内部变异如何为更广泛的变异解释提供信息;许多其他地方罕见的变异在非洲部分地区很常见。这里介绍的工作提高了对非洲人群遗传变异谱的理解,并突出了整个非洲巨大而复杂的遗传和民族语言多样性。非洲拥有巨大的遗传、语言和文化多样性。在这里,我们研究了语言如何与来自埃塞俄比亚,肯尼亚,乌干达和南非的个体的遗传学相关。我们发现自我报告的语言标签遗传变异,我们观察到三代人的语言传播变化。非洲的遗传变异对于更广泛的变异解释是有用的。
African populations are the most diverse in the world yet are sorely underrepresented in medical genetics research. Here, we examine the structure of African populations using genetic and comprehensive multi-generational ethnolinguistic data from the Neuropsychiatric Genetics of African Populations-Psychosis study (NeuroGAP-Psychosis) consisting of 900 individuals from Ethiopia, Kenya, South Africa, and Uganda. We find that self-reported language classifications meaningfully tag underlying genetic variation that would be missed with consideration of geography alone, highlighting the importance of culture in shaping genetic diversity. Leveraging our uniquely rich multi-generational ethnolinguistic metadata, we track language transmission through the pedigree, observing the disappearance of several languages in our cohort as well as notable shifts in frequency over three generations. We find suggestive evidence for the rate of language transmission in matrilineal groups having been higher than that for patrilineal ones. We highlight both the diversity of variation within Africa as well as how within-Africa variation can be informative for broader variant interpretation; many variants that are rare elsewhere are common in parts of Africa. The work presented here improves the understanding of the spectrum of genetic variation in African populations and highlights the enormous and complex genetic and ethnolinguistic diversity across Africa. Africa has immense genetic, linguistic, and cultural diversity. Here, we examine how languages relate to genetics across individuals from Ethiopia, Kenya, Uganda, and South Africa. We find self-reported language tags genetic variation, and we observe shifts in language transmission through three generations. African genetic variation is informative for broader variant interpretation.
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发表时间: 2012-11-01
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