Mao Xianyun, Bigham Abigail W, Mei Rui, Gutierrez Gerardo, Weiss Ken M, Brutsaert Tom D, Leon-Velarde Fabiola, Moore Lorna G, Vargas Enrique, McKeigue Paul M, Shriver Mark D, Parra Esteban J
Department of Anthropology, The Pennsylvania State University, University Park, PA 16801, USA.
Am J Hum Genet. 2007 Jun;80(6):1171-8. doi: 10.1086/518564. Epub 2007 Apr 20.
Admixture mapping (AM) is a promising method for the identification of genetic risk factors for complex traits and diseases showing prevalence differences among populations. Efficient application of this method requires the use of a genomewide panel of ancestry-informative markers (AIMs) to infer the population of origin of chromosomal regions in admixed individuals. Genomewide AM panels with markers showing high frequency differences between West African and European populations are already available for disease-gene discovery in African Americans. However, no such a map is yet available for Hispanic/Latino populations, which are the result of two-way admixture between Native American and European populations or of three-way admixture of Native American, European, and West African populations. Here, we report a genomewide AM panel with 2,120 AIMs showing high frequency differences between Native American and European populations. The average intermarker genetic distance is ~1.7 cM. The panel was identified by genotyping, with the Affymetrix GeneChip Human Mapping 500K array, a population sample with European ancestry, a Mesoamerican sample comprising Maya and Nahua from Mexico, and a South American sample comprising Aymara/Quechua from Bolivia and Quechua from Peru. The main criteria for marker selection were both high information content for Native American/European ancestry (measured as the standardized variance of the allele frequencies, also known as "f value") and small frequency differences between the Mesoamerican and South American samples. This genomewide AM panel will make it possible to apply AM approaches in many admixed populations throughout the Americas.
混合映射(AM)是一种很有前景的方法,用于识别复杂性状和疾病的遗传风险因素,这些性状和疾病在不同人群中的患病率存在差异。有效应用该方法需要使用全基因组的祖先信息标记(AIM)面板,以推断混合个体中染色体区域的起源人群。已经有了在非裔美国人中用于疾病基因发现的全基因组AM面板,其标记在西非和欧洲人群之间显示出高频差异。然而,对于西班牙裔/拉丁裔人群,尚无这样的图谱,该人群是美洲原住民和欧洲人群双向混合的结果,或者是美洲原住民、欧洲人和西非人群三方混合的结果。在这里,我们报告了一个全基因组AM面板,其中包含2120个在美洲原住民和欧洲人群之间显示高频差异的AIM。标记间的平均遗传距离约为1.7厘摩。该面板是通过使用Affymetrix GeneChip Human Mapping 500K芯片对一个具有欧洲血统的人群样本、一个来自墨西哥的包含玛雅人和纳瓦人的中美洲样本以及一个来自玻利维亚的艾马拉/克丘亚人和来自秘鲁的克丘亚人的南美洲样本进行基因分型而确定的。标记选择的主要标准是对美洲原住民/欧洲血统具有高信息含量(以等位基因频率的标准化方差衡量,也称为“f值”)以及中美洲和南美洲样本之间的频率差异小。这个全基因组AM面板将使在整个美洲的许多混合人群中应用AM方法成为可能。