Genomic landscape of positive natural selection in Northern European populations. Export

@article{citeulike:5983165, abstract = {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 F(ST) 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 advance online publication, 21 October 2009; doi:10.1038/ejhg.2009.184.}, author = {Lappalainen, Tuuli and Salmela, Elina and Andersen, Peter M. and Dahlman-Wright, Karin and Sistonen, Pertti and Savontaus, Marja-Liisa L. and Schreiber, Stefan and Lahermo, P\"{a}ivi and Kere, Juha}, citeulike-article-id = {5983165}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/ejhg.2009.184}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/ejhg2009184a}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/19844263}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=19844263}, day = {21}, doi = {10.1038/ejhg.2009.184}, issn = {1476-5438}, journal = {European journal of human genetics : EJHG}, month = {October}, posted-at = {2009-10-23 10:19:46}, priority = {2}, publisher = {Nature Publishing Group}, title = {Genomic landscape of positive natural selection in Northern European populations.}, url = {http://dx.doi.org/10.1038/ejhg.2009.184}, year = {2009} }

TY - JOUR ID - citeulike:5983165 L3 - citeulike-article-id:5983165 N2 - 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 F(ST) 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 advance online publication, 21 October 2009; doi:10.1038/ejhg.2009.184. JF - European journal of human genetics : EJHG SN - 1476-5438 TI - Genomic landscape of positive natural selection in Northern European populations. PB - Nature Publishing Group AU - Lappalainen, Tuuli AU - Salmela, Elina AU - Andersen, Peter AU - Dahlman-Wright, Karin AU - Sistonen, Pertti AU - Savontaus, Marja-Liisa AU - Schreiber, Stefan AU - Lahermo, Päivi AU - Kere, Juha PY - 2009/10/21/ UR - http://dx.doi.org/10.1038/ejhg.2009.184 ER -