title: Implications of population history of European Romani on genetic susceptibility to disease.
abstract: OBJECTIVE
  The population history of European Romani is characterized by extensive bottleneck and admixture events, but the impact of this unique demographic history on the genetic risk for disease remains unresolved.
  
  
  METHODS
  Genome-wide SNP data on Romani, non-Romani Europeans and Indians were analyzed. The excess of homozygous variants in Romani genomes was assessed according to their potential functional effect. We also explored the frequencies of risk variants associated with five common diseases which are present at an increased prevalence in Romani compared to other Europeans.
  
  
  RESULTS
  Slightly deleterious variants are present at increased frequencies in European Romani, likely a result of relaxed purifying selection due to bottlenecks in their population history. The frequencies of SNPs associated with common metabolic and cardiovascular diseases are also increased compared to their European hosts.
  
  
  CONCLUSIONS
  As observed in other founder populations, we confirm the impact of bottlenecks on the abundance of slightly deleterious variants in Romani groups, probably including metabolic and cardiovascular risk variants.
authors.affiliation: Institut de Biologia Evolutiva (CSIC-UPF), Departament de Ciències de la Salut i de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Mendizabal
authors.forename: Oscar
authors.initials: O
authors.lastname: Lao
authors.forename: Urko M
authors.initials: UM
authors.lastname: Marigorta
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
authors.forename: David
authors.initials: D
authors.lastname: Comas
mesh_terms: D005006:Ethnicity / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population / Q000266:history*; D049690:History, Ancient; D006720:Homozygote; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D044465:White People / Q000235:genetics*