期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 18, 期 4, 页码 471-478出版社
SPRINGERNATURE
DOI: 10.1038/ejhg.2009.184
关键词
natural selection; genetic variation; population; Europe
资金
- Emil Aaltonen foundation
- Research Foundation of the University of Helsinki
- Graduate School in Computational Biology, Bioinformatics, and Biometry
- Sigrid Juselius Foundation
- Academy of Finland
- Swedish Research Council
- Finnish Cultural Foundation
- National Genome Research Network (NGFN)
- PopGen Biobank through the German Ministry of Education and Science, and DFG
- Wellcome Trust [076113]
Analyzing genetic variation of human populations for detecting loci that have been affected by positive natural selection is important for understanding adaptive history and phenotypic variation in humans. In this study, we analyzed recent positive selection in Northern Europe from genome-wide data sets of 250 000 and 500 000 single-nucleotide polymorphisms (SNPs) in a total of 999 individuals from Great Britain, Northern Germany, Eastern and Western Finland, and Sweden. Coalescent simulations were used for demonstrating that the integrated haplotype score (iHS) and long-range haplotype (LRH) statistics have sufficient power in genome-wide data sets of different sample sizes and SNP densities. Furthermore, the behavior of the FST statistic in closely related populations was characterized by allele frequency simulations. In the analysis of the North European data set, 60 regions in the genome showed strong signs of recent positive selection. Out of these, 21 regions have not been discovered in previous scans, and many contain genes with interesting functions (eg, RAB38, INFG, NOS1AP, and APOE). In the putatively selected regions, we observed a statistically significant overrepresentation of genetic association with complex disease, which emphasizes the importance of the analysis of positive selection in understanding the evolution of human disease. Altogether, this study demonstrates the potential of genome-wide data sets to discover loci that lie behind evolutionary adaptation in different human populations. European Journal of Human Genetics (2010) 18, 471-478; doi:10.1038/ejhg.2009.184; published online 21 October 2009
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