Harbo H F, Riccio M E, Lorentzen A R, Utsi E, Myhr K-M, Mellgren S I, Flåm S T, Thorsby E, Sanchez-Mazas A, Lie B A
Department of Neurology, Oslo University Hospital, Ullevål, Oslo, Norway.
Tissue Antigens. 2010 Mar;75(3):207-17. doi: 10.1111/j.1399-0039.2009.01425.x. Epub 2009 Dec 30.
This study reports extensive genomic data for both human leukocyte antigen (HLA) class I and II loci in Norwegian Sami, a native population living in the northwest of Europe. The Sami have a distinct culture and their own languages, which belong to the Uralic linguistic family. Norwegian Sami (n = 200) were typed at the DNA level for the HLA-A, -C, -B, -DRB1 and -DQB1 loci, and compared with a non-Sami Norwegian population (n = 576). The two populations exhibited some common genetic features but also differed significantly at all HLA loci. The most significantly deviating allele frequencies were an increase of HLA-A03, -B27, -DRB108 and -DQB104 and a decrease of HLA-A01, C01, -DRB104 and -DQB102 among Sami compared with non-Sami Norwegians. The Sami showed no deviation from Hardy-Weinberg equilibrium. The hypothesis of selective neutrality was rejected at all loci except for the A- and C- loci for the Sami. HLA haplotype frequencies also differed between the two populations. The most common extended HLA haplotypes were A02-B27-C01-DR08-DQB104 in the Sami and A01-B08-C07-DR03-DQB102 in the other Norwegians. Genetic distance analyses indicated that the Norwegian Sami were highly differentiated from other Europeans and were most closely related to Finns whose language also belongs to the Uralic linguistic family. In conclusion, the Norwegian Sami and the non-Sami Norwegians were significantly different at all HLA loci. Our results can be explained by the fact that the two populations have different origins and that the Sami population has remained smaller and more isolated than its neighbors.
本研究报告了挪威萨米人(居住在欧洲西北部的一个原住民群体)人类白细胞抗原(HLA)I类和II类基因座的大量基因组数据。萨米人拥有独特的文化和自己的语言,这些语言属于乌拉尔语系。对200名挪威萨米人进行了HLA - A、- C、- B、- DRB1和 - DQB1基因座的DNA分型,并与576名非萨米挪威人群体进行比较。这两个人群体表现出一些共同的遗传特征,但在所有HLA基因座上也存在显著差异。与非萨米挪威人相比,萨米人中最显著偏离的等位基因频率是HLA - A03、- B27、- DRB108和 - DQB104增加,以及HLA - A01、C01、- DRB104和 - DQB102减少。萨米人未偏离哈迪 - 温伯格平衡。除了萨米人的A基因座和C基因座外,所有基因座的选择中性假设均被拒绝。两个人群体之间的HLA单倍型频率也有所不同。萨米人中最常见的扩展HLA单倍型是A02 - B27 - C01 - DR08 - DQB104,而其他挪威人中是A01 - B08 - C07 - DR03 - DQB102。遗传距离分析表明,挪威萨米人与其他欧洲人高度分化,与语言也属于乌拉尔语系的芬兰人关系最为密切。总之,挪威萨米人和非萨米挪威人在所有HLA基因座上都存在显著差异。我们的结果可以用以下事实来解释:这两个人群体有不同的起源,并且萨米人群体规模一直较小,比其邻国更加隔离。