The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.
The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies.
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DOI：
10.1371/journal.pone.0051103
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Rocha J
中科院分区：
文献类型：
--
作者：
Beleza S;Campos J;Lopes J;Araújo II;Hoppfer Almada A;Correia e Silva A;Parra EJ;Rocha J
最近混合的人群为研究人类历史和阐明人类群体之间流行程度不同的复杂性状的遗传基础提供了独特的机会。历史记录、经典蛋白质标记和初步遗传数据表明，西非佛得角群岛是高度混血的，主要是欧洲男性和非洲女性的后裔。然而，人们对各岛屿的混合物水平、混合物动力学和遗传多样性的变化以及佛得角进行混合物绘图研究的潜力知之甚少。我们根据来自该群岛六个岛屿的 845 个人的客观肤色测量、社会经济地位 (SES) 评估和 50 个常染色体、34 个 X 染色体和 21 个非重组 Y 染色体 (NRY) 标记的数据，对佛得角的表型和遗传变异进行了详细分析。我们发现欧洲和非洲祖先群体之间存在广泛的遗传混合（平均西非血统 = 0.57，sd = 0.08），各个岛屿之间非洲血统的个体比例差异很大。使用 X 和 Y 染色体标记计算的非洲血统比例证实，混合模式存在性别偏见。高分辨率 NRY-STR 揭示了岛屿之间的其他变异模式，这些变异模式与混合后的分化最为一致。常染色体混合比例的差异在各岛的肤色分布中非常明显（Pearson r = 0.54，P 值<2e–16）。尽管相关性很强，但社会经济地位和肤色之间存在显着的相互作用，而这种相互作用与肤色和遗传血统之间的关系无关。观察到的混合、遗传变异和肤色的分布以及肤色与社会经济地位的关系与佛得角定居历史期间发生的历史和社会事件有关，并且对使用该人群进行关联研究的设计具有影响。
Recently admixed populations offer unique opportunities for studying human history and for elucidating the genetic basis of complex traits that differ in prevalence between human populations. Historical records, classical protein markers, and preliminary genetic data indicate that the Cape Verde islands in West Africa are highly admixed and primarily descended from European males and African females. However, little is known about the variation in admixture levels, admixture dynamics and genetic diversity across the islands, or about the potential of Cape Verde for admixture mapping studies. We have performed a detailed analysis of phenotypic and genetic variation in Cape Verde based on objective skin color measurements, socio-economic status (SES) evaluations and data for 50 autosomal, 34 X-chromosome, and 21 non-recombinant Y-chromosome (NRY) markers in 845 individuals from six islands of the archipelago. We find extensive genetic admixture between European and African ancestral populations (mean West African ancestry = 0.57, sd = 0.08), with individual African ancestry proportions varying considerably among the islands. African ancestry proportions calculated with X and Y-chromosome markers confirm that the pattern of admixture has been sex-biased. The high-resolution NRY-STRs reveal additional patterns of variation among the islands that are most consistent with differentiation after admixture. The differences in the autosomal admixture proportions are clearly evident in the skin color distribution across the islands (Pearson r = 0.54, P-value<2e–16). Despite this strong correlation, there are significant interactions between SES and skin color that are independent of the relationship between skin color and genetic ancestry. The observed distributions of admixture, genetic variation and skin color and the relationship of skin color with SES relate to historical and social events taking place during the settlement history of Cape Verde, and have implications for the design of association studies using this population.
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影响因子：
6.9
作者：
Basu, Analabha;Tang, Hua;Arnett, Donna;Gu, C. Charles;Mosley, Tom;Kardia, Sharon;Luke, Amy;Tayo, Bamidele;Cooper, Richard;Zhu, Xiaofeng;Risch, Neil
通讯作者：
Risch, Neil
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影响因子：
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通讯作者：
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影响因子：
1.9
作者：
Beleza, S;Gusmao, L;Amorim, A
通讯作者：
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1.9
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Fernandes, AT;Velosa, R;Brehm, A
通讯作者：
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