Preussner Annina, Leinonen Jaakko, Riikonen Juha, Pirinen Matti, Tukiainen Taru
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Department of Public Health, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Eur J Hum Genet. 2025 Jan;33(1):89-97. doi: 10.1038/s41431-024-01707-7. Epub 2024 Oct 28.
The paternally inherited Y chromosome is highly informative of genetic ancestry, therefore making it useful in studies of population history. In Finland, two Y-chromosomal haplogroups reveal the major substructure of the population: N1a1 enriched in the northeast and I1a in the southwest, suggested to reflect eastern and western ancestry contributions to the population. Yet, beyond these major Y-chromosomal lineages, the distribution of finer-scale Y-chromosomal variation has not been assessed in Finland. Here, we provide the most comprehensive Y-chromosomal study among the Finns to date, exploiting sequences for 1802 geographically mapped Finnish Y chromosomes from the FINRISK project. We assessed the distribution of common Y-chromosomal haplogroups (frequency ≥1%) throughout 19 Finnish regions and compared the autosomal genetic backgrounds of the Y-chromosomal haplogroups. With such high-resolution data, we were able to find previously unreported sublineages and resolve phylogenetic relationships within haplogroups N1a1 (64%), I1a (25%), R1a (4.3%), and R1b (4.8%). We further find novel geographical enrichment patterns among these Y-chromosomal haplogroups, most notably observed for haplogroup N1a1 dividing into two lineages with differing distributions. While sublineage N-Z1934 (42%) followed a northeastern enrichment pattern observed for all N1a1 carriers in general, sublineage N-VL29 (22%) displayed an enrichment in the southwest. Further, the carriers of N-VL29 showed a higher proportion of southwestern autosomal ancestry compared to carriers of N-Z1934. Collectively, these results point to distinct demographics within haplogroup N1a1, possibly induced by two distinct arrival routes into Finland. Overall, our study suggests a more complex genetic population history for Finns than previously proposed.
父系遗传的Y染色体对遗传谱系具有高度的信息性，因此在群体历史研究中很有用。在芬兰，两个Y染色体单倍群揭示了该群体结构的主要组成部分：N1a1在东北部富集，I1a在西南部富集，这表明反映了该群体中东西方祖先的贡献。然而，除了这些主要的Y染色体谱系外，芬兰尚未评估更精细尺度的Y染色体变异分布。在这里，我们利用来自FINRISK项目的1802条地理定位的芬兰Y染色体序列，提供了迄今为止芬兰人中最全面的Y染色体研究。我们评估了常见Y染色体单倍群（频率≥1%）在19个芬兰地区的分布，并比较了Y染色体单倍群的常染色体遗传背景。有了如此高分辨率的数据，我们能够发现以前未报告的亚谱系，并解析单倍群N1a1（64%）、I1a（25%）、R1a（4.3%）和R1b（4.8%）内的系统发育关系。我们进一步在这些Y染色体单倍群中发现了新的地理富集模式，最显著的是观察到单倍群N1a1分为两个分布不同的谱系。虽然亚谱系N-Z1934（42%）总体上遵循了所有N1a1携带者在东北部的富集模式，但亚谱系N-VL29（22%）在西南部表现出富集。此外，与N-Z1934的携带者相比，N-VL29的携带者表现出更高比例的西南常染色体祖先。总体而言，这些结果表明单倍群N1a1内存在不同的人口统计学特征，可能是由两条不同的进入芬兰的路线引起的。总的来说，我们的研究表明芬兰人的遗传群体历史比以前提出的更为复杂。
