title: Parkinson's disease, genetic variability and the Faroe Islands.
abstract: BACKGROUND
  The Faroe Islands is a geographically isolated population in the North Atlantic with a high prevalence of Parkinson disease (PD). The disease etiology is still unknown, although dietary pollutants are considered a risk factor. The genetic risk underlying disease susceptibility has yet to be elucidated.
  
  
  METHODS
  Sequence analysis was performed in genes previously linked with PD in 91 patients and 96 healthy control subjects.
  
  
  RESULTS
  Fourteen missense mutations, of which one was novel, were identified in six genes. One patient (1%) did carry the known pathogenic mutation LRRK2 p.G2019S mutation, 19 patients (22%) did carry mutations of unknown significance while 70 patients (78.0%) did not have any identifiable genetic risk. A total of 14 controls (14.6%) carried mutations of unknown significance.
  
  
  CONCLUSIONS
  This study suggests that rare variants in genes previously linked to PD are not major contributors to PD in the Faroe Islands. Further exome sequencing and comparative analyses within and among well-described pedigrees with multi-incident PD are now warranted.
authors.affiliation: Department of Occupational Medicine and Public Health, The Faroese Hospital System, Sigmundargøta 5, Postbox 14, FO-110 Tórshavn, Faroe Islands. Electronic address: maria@health.fo.
authors.forename: Maria Skaalum
authors.initials: MS
authors.lastname: Petersen
authors.affiliation: Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: iguella@can.ubc.ca.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Guella
authors.affiliation: Department of Occupational Medicine and Public Health, The Faroese Hospital System, Sigmundargøta 5, Postbox 14, FO-110 Tórshavn, Faroe Islands. Electronic address: sarabw@sund.ku.dk.
authors.forename: Sara
authors.initials: S
authors.lastname: Bech
authors.affiliation: Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: egustavsson@can.ubc.ca.
authors.forename: Emil
authors.initials: E
authors.lastname: Gustavsson
authors.affiliation: Djavad Mowafaghian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: mfarrer@can.ubc.ca.
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003718:Denmark / Q000453:epidemiology; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins
keywords: Faroe Islands; Genes linked to Parkinson's disease; Next-generation sequencing; Parkinson's disease