Almazov National Medical Research Centre, St Petersburg, Russia.
ITMO University, St Petersburg, Russia.
Nat Commun. 2024 Jul 23;15(1):6212. doi: 10.1038/s41467-024-50304-1.
The population of Russia consists of more than 150 local ethnicities. The ethnic diversity and geographic origins, which extend from eastern Europe to Asia, make the population uniquely positioned to investigate the shared properties of inherited disease risks between European and Asian ancestries. We present the analysis of genetic and phenotypic data from a cohort of 4,145 individuals collected in three metro areas in western Russia. We show the presence of multiple admixed genetic ancestry clusters spanning from primarily European to Asian and high identity-by-descent sharing with the Finnish population. As a result, there was notable enrichment of Finnish-specific variants in Russia. We illustrate the utility of Russian-descent cohorts for discovery of novel population-specific genetic associations, as well as replication of previously identified associations that were thought to be population-specific in other cohorts. Finally, we provide access to a database of allele frequencies and GWAS results for 464 phenotypes.
俄罗斯的人口由 150 多个当地民族组成。从东欧到亚洲的民族多样性和地理起源，使该人群能够独特地研究欧洲和亚洲血统之间遗传疾病风险的共同特征。我们展示了在俄罗斯西部三个大都市地区收集的 4145 个人的遗传和表型数据的分析结果。我们发现存在多个混合遗传祖先群，从主要的欧洲到亚洲，并且与芬兰人群有很高的亲缘关系共享。因此，在俄罗斯有显著的芬兰特异性变异富集。我们说明了俄罗斯后裔队列在发现新的人群特异性遗传关联以及复制以前被认为是其他队列中特定人群的关联方面的实用性。最后，我们提供了一个包含 464 种表型的等位基因频率和 GWAS 结果的数据库。
