title: Genetic determinants of swallowing impairments among community dwelling older population.
abstract: BACKGROUND
  Swallowing difficulties (dysphagia) affect a significant proportion of community dwelling older individuals, being more prevalent in age-associated neurological conditions such as stroke and Parkinson's disease. The genetic determinants of dysphagia are still being explored and have largely been studied through candidate gene analysis approaches. The aim of the study was to perform a genome-wide association study (GWAS) of common genetic single nucleotide polymorphisms (SNP) and self-reported swallowing impairments in a longitudinal cohort of community dwelling older adults.
  
  
  METHODS
  We performed a case-control genome-wide association study of self-reported swallowing symptoms using the Sydney Swallow Questionnaire. The analysis included 555 community dwelling, unrelated, older adults (mean years of age=81.4; SD=5.349) with known phenotype and genetic information consisting of 512,806 single nucleotide polymorphisms. Gene-based association analysis of these traits was also conducted.
  
  
  RESULTS
  Analysis of the cohort confirmed European ancestry with no major population stratification. Further analysis for association with swallowing impairment identified one SNP rs17601696 which achieved genome-wide significance (P-value=5×10(-8)) within a non-coding region of chromosome 10. Gene-based analysis did not result in any genome-wide significant association.
  
  
  CONCLUSIONS
  SNP rs17601696 may have an impact on swallowing impairment among elderly individuals. The results require replication in an independent cohort with appropriate phenotype/genotype data.
authors.affiliation: Clinical and Cognitive Neuroscience, Institute Brain Behaviour and Mental Health, University of Manchester, Clinical Sciences Building, Salford Royal NHS Foundation Trust, Salford, UK. Electronic address: alicja.raginis-zborowska@postgrad.manchester.ac.uk.
authors.forename: Alicja
authors.initials: A
authors.lastname: Raginis-Zborowska
authors.affiliation: Cathie Marsh Institute for Social Research, School of Social Sciences, University of Manchester, Manchester, UK.
authors.forename: Krisztina
authors.initials: K
authors.lastname: Mekli
authors.affiliation: Centre for Integrated Genomic Medical Research, University of Manchester, Stopford Building, Oxford Road, Manchester, UK.
authors.forename: Antony
authors.initials: A
authors.lastname: Payton
authors.affiliation: Centre for Integrated Genomic Medical Research, University of Manchester, Stopford Building, Oxford Road, Manchester, UK.
authors.forename: William
authors.initials: W
authors.lastname: Ollier
authors.affiliation: Centre for Gastrointestinal Sciences, Institute of Inflammation and Repair, Faculty of Medical and Human Sciences, University of Manchester, Part of the Manchester Academic Health Sciences Centre [MAHSC], Clinical Sciences Building, Salford Royal NHS Foundation Trust, Salford, UK.
authors.forename: Shaheen
authors.initials: S
authors.lastname: Hamdy
authors.affiliation: Clinical and Cognitive Neuroscience, Institute Brain Behaviour and Mental Health, University of Manchester, Clinical Sciences Building, Salford Royal NHS Foundation Trust, Salford, UK.
authors.forename: Neil
authors.initials: N
authors.lastname: Pendleton
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D003679:Deglutition / Q000235:genetics*; D003680:Deglutition Disorders / Q000453:epidemiology / Q000235:genetics; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D057187:Independent Living / Q000706:statistics & numerical data; D008297:Male; D020641:Polymorphism, Single Nucleotide; D057566:Self Report; D006113:United Kingdom / Q000453:epidemiology; D044465:White People
keywords: Dysphagia; Genetic polymorphisms; Genome-wide association study (GWAS); Swallowing