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Article
Searching for Signals of Evolutionary Selection in 168 Genes Related to Immune Function
Human Genetics
  • Emily C. Walsh, Novartis Institutes for Biomedical Research; Broad Institute
  • Pardis Sabeti, Broad Institute
  • Holli Hutcheson, National Cancer Institute at Frederick
  • Ben Fry, Broad Institute
  • Stephen F. Schaffner, Broad Institute
  • Paul I. W. de Bakker, Broad Institute; Massachusetts General Hospital
  • Patrick Varilly, Broad Institute
  • Alejandro A. Palma, Broad Institute
  • Jessica Roy, Broad Institute
  • Richard Cooper, Loyola University
  • Cheryl Winkler, National Cancer Institute at Frederick
  • Yi Zeng, Institute for Viral Disease Control and Prevention - Beijing, China
  • Guy de The, The Institute Pasteur - Paris, France
  • Eric S. Lander, Broad Institute
  • Stephen J. O'Brien, National Cancer Institute at Frederick
  • David Altshuler, Broad Institute; Harvard Medical School; Massachusetts General Hospital
Document Type
Article
Publication Date
3-1-2006
Keywords
  • Metabolic diseases,
  • Gene function,
  • Molecular medicine,
  • Human genetics
Abstract

Pathogens have played a substantial role in human evolution, with past infections shaping genetic variation at loci influencing immune function. We selected 168 genes known to be involved in the immune response, genotyped common single nucleotide polymorphisms across each gene in three population samples (CEPH Europeans from Utah, Han Chinese from Guangxi, and Yoruba Nigerians from Southwest Nigeria) and searched for evidence of selection based on four tests for non-neutral evolution: minor allele frequency (MAF), derived allele frequency (DAF), Fst versus heterozygosity and extended haplotype homozygosity (EHH). Six of the 168 genes show some evidence for non-neutral evolution in this initial screen, with two showing similar signals in independent data from the International HapMap Project. These analyses identify two loci involved in immune function that are candidates for having been subject to evolutionary selection, and highlight a number of analytical challenges in searching for selection in genome-wide polymorphism data.

Comments

©Springer-Verlag 2005

Additional Comments
National Cancer Institute contracat #: NO1-CO-12400
ORCID ID
0000-0001-7353-8301
ResearcherID
N-1726-2015
Citation Information
Emily C. Walsh, Pardis Sabeti, Holli Hutcheson, Ben Fry, et al.. "Searching for Signals of Evolutionary Selection in 168 Genes Related to Immune Function" Human Genetics Vol. 119 Iss. 1-2 (2006) p. 92 - 102 ISSN: 0340-6717
Available at: http://works.bepress.com/stephen-obrien/557/