Admixed Ancestry and Stratification of Quebec Regional Populations
Admixed Ancestry and Stratification of Quebec Regional Populations
复制标题
DOI：
10.1002/ajpa.21424
复制
发表时间：
2011-03-01
影响因子：
2.8
通讯作者：
Vezina, Helene
中科院分区：
文献类型：
--
作者：
Bherer, Claude;Labuda, Damian;Vezina, Helene
种群分层是祖先不平等的、非随机的遗传贡献的结果，应该反映在潜在的谱系中。在魁北克，孟德尔疾病的分布表明当地的创始人效应表明当代法裔加拿大人基因库的分层。在这里，我们通过分析分布在八个地区的2,221名受试者的谱系中确定的7,798名移民创始人的基因贡献，来表征人口结构。在除一个地区以外的所有地区，约90%的基因库是由早期法国创始人贡献的。在东部地区，这一贡献为76%，我们观察到阿卡迪亚人、英国和美国的忠诚者的贡献更高。为了从系谱数据中检测群体分层，我们提出了一种基于移民创始人遗传贡献的主成分分析(PCA)的方法。这一分析与成对亲属关系系数的多维标度进行了比较。这两种方法都显示出东北部和东部地区明显相同的证据，以及与圣劳伦斯河沿岸地理位置相关的区域人口分层。此外，我们还观察到了一个由西向东递减的多样性梯度。对个人计算机相关创始人的分析说明了符合特定地区遗传模式的早期创始人和晚期创始人的不同影响。这些结果突出了在魁北克进行遗传流行病学研究设计时考虑样本的地理来源的重要性。此外，我们的结果还表明，对深升系谱的研究可以准确地揭示种群结构。Am J Phys Anthropol144：432-441,2011。(C)2010年Wiley-Liss公司
Population stratification results from unequal, nonrandom genetic contribution of ancestors and should be reflected in the underlying genealogies. In Quebec, the distribution of Mendelian diseases points to local founder effects suggesting stratification of the contemporary French Canadian gene pool. Here we characterize the population structure through the analysis of the genetic contribution of 7,798 immigrant founders identified in the genealogies of 2,221 subjects partitioned in eight regions. In all but one region, about 90% of gene pools were contributed by early French founders. In the eastern region where this contribution was 76%, we observed higher contributions of Acadians, British and American Loyalists. To detect population stratification from genealogical data, we propose an approach based on principal component analysis (PCA) of immigrant founders' genetic contributions. This analysis was compared with a multidimensional scaling of pairwise kinship coefficients. Both methods showed evidence of a distinct identity of the northeastern and eastern regions and stratification of the regional populations correlated with geographical location along the St-Lawrence River. In addition, we observed a West-East decreasing gradient of diversity. Analysis of PC-correlated founders illustrates the differential impact of early versus latter founders consistent with specific regional genetic patterns. These results highlight the importance of considering the geographic origin of samples in the design of genetic epidemiology studies conducted in Quebec. Moreover, our results demonstrate that the study of deep ascending genealogies can accurately reveal population structure. Am J Phys Anthropol 144:432-441, 2011. (c) 2010 Wiley-Liss, Inc.