title: Potential Signals of Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11.
abstract: BACKGROUND
  Coronary artery disease (CAD) is a complex disease and the leading cause of death in the world. Populations of different ancestry do not always share the same risk markers. Natural selective processes may be the cause of some of the population differences detected for specific risk mutations.
  
  
  OBJECTIVE
  In this study, 384 single nucleotide polymorphisms (SNPs) located in four genomic regions associated with CAD (1p13, 1q41, 9p21 and 10q11) are analysed in a set of 19 populations from Europe, Middle East and North Africa and also in Asian and African samples from the 1000 Genomes Project. The aim of this survey is to explore for the first time whether the genetic variability in these genomic regions is better explained by demography or by natural selection.
  
  
  RESULTS
  The results indicate significant differences in the structure of genetic variation and in the LD patterns among populations that probably explain the population disparities found in markers of susceptibility to CAD.
  
  
  CONCLUSIONS
  The results are consistent with potential signature of positive selection in the 9p21 region and of balancing selection in the 9p21 and 10q11. Specifically, in Europe three CAD risk markers in the 9p21 region (rs9632884, rs1537371 and rs1333042) show consistent signals of positive selection. The results of this study are consistent with a potential selective role of CAD in the configuration of genetic diversity in current human populations.
authors.affiliation: Department of Animal Biology-Anthropology, University of Barcelona, Barcelona, Spain.
authors.forename: Daniela
authors.initials: D
authors.lastname: Zanetti
authors.affiliation: Department of Animal Biology-Anthropology, University of Barcelona, Barcelona, Spain.
authors.forename: Robert
authors.initials: R
authors.lastname: Carreras-Torres
authors.affiliation: Department of Animal Biology-Anthropology, University of Barcelona, Barcelona, Spain; Biodiversity Research Institute, University of Barcelona, Spain.
authors.forename: Esther
authors.initials: E
authors.lastname: Esteban
authors.affiliation: Department of Psychiatry and Clinical Psychobiology and Institute for Brain, Cognition and Behavior (IR3C), University of Barcelona, Barcelona, Spain.
authors.forename: Marc
authors.initials: M
authors.lastname: Via
authors.affiliation: Department of Animal Biology-Anthropology, University of Barcelona, Barcelona, Spain; Biodiversity Research Institute, University of Barcelona, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Moral
mesh_terms: D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003324:Coronary Artery Disease / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D005843:Geography; D006579:Heterozygote; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D025341:Principal Component Analysis; D011786:Quality Control; D012307:Risk Factors; D012641:Selection, Genetic; D044465:White People / Q000235:genetics