爱尔兰和英国近代人口历史的遗传学观点。

IF 3.7 2区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Ashwini Shanmugam, Michael Merrigan, Seamus O’Reilly, Anne M. Molloy, Lawrence Brody, Orla Hardiman, Walter Bodmer, Russell L. McLaughlin, Gianpiero L. Cavalleri, Ross P. Byrne, Edmund H. Gilbert
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引用次数: 0

摘要

虽然已经确定了爱尔兰和英国之间微妙而离散的基因同一性集群,但它们最近的人口统计历史尚不清楚。利用6574名具有相关爱尔兰或英国血统的个体的基因型数据,我们通过Leiden社区检测确定了遗传群落。利用单倍型片段的长度作为时间的代理,我们推断了爱尔兰和英国地区的人口历史。使用爱尔兰参与者的一个子集,我们通过估计爱尔兰遗传社区内姓氏的富集/消耗来提供家谱背景。通过单倍型共享模式,我们在奥克迪亚、马恩岛和威尔士的遗传群体中发现了近期人口瓶颈的证据。我们观察了爱尔兰和英国遗传群体内部和之间遗传亲和力的时间变化。与邻近的英国社区相比,爱尔兰的结构更为微妙,爱尔兰群体共享相对较短的单倍型片段。此外,我们在不同时期的爱尔兰和英国外围遗传群体中发现了不同程度的遗传隔离。此外,我们观察到爱尔兰东北部和苏格兰西南部之间有一个稳定的移民走廊,而爱尔兰东南部和西部之间最近有一个移民障碍。爱尔兰姓氏的家谱分析反映了历史——盎格鲁-诺曼姓氏在韦克斯福德社区丰富,而苏格兰和加洛格拉斯姓氏在阿尔斯特社区丰富。利用这些对爱尔兰和英国不同时期的区域人口历史的新见解,我们希望了解这些人群中罕见等位基因频率和疾病风险关联的驱动力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

A genetic perspective on the recent demographic history of Ireland and Britain

A genetic perspective on the recent demographic history of Ireland and Britain
While subtle yet discrete clusters of genetic identity across Ireland and Britain have been identified, their recent demographic history is unclear. Using genotype data from 6574 individuals with associated regional Irish or British ancestry, we identified genetic communities by applying Leiden community detection. Using haplotype segments segregated by length as proxy for time, we inferred regional Irish and British demographic histories. Using a subset of Irish participants, we provide genealogical context by estimating the enrichment/depletion of surnames within the Irish genetic communities. Through patterns of haplotype sharing, we find evidence of recent population bottlenecks in Orcadian, Manx and Welsh genetic communities. We observed temporal changes in genetic affinities within and between genetic communities in Ireland and Britain. Structure in Ireland is subtler compared to neighbouring British communities, with the Irish groups sharing relatively more short haplotype segments. In addition, we detected varying degrees of genetic isolation in peripheral Irish and British genetic communities across different time periods. Further, we observe a stable migration corridor between north-east Ireland and south-west Scotland while there is a recent migration barrier between south-east and west Ireland. Genealogical analysis of surnames in Ireland reflects history—Anglo-Norman surnames are enriched in the Wexford community while Scottish and Gallowglass surnames were enriched in the Ulster community. Using these new insights into the regional demographic history of Ireland and Britain across different time periods, we hope to understand the driving forces of rare allele frequencies and disease risk association within these populations.
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来源期刊
European Journal of Human Genetics
European Journal of Human Genetics 生物-生化与分子生物学
CiteScore
9.90
自引率
5.80%
发文量
216
审稿时长
2 months
期刊介绍: The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics
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