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Author Bustamante, M.; Standl, M.; Bassat, Q.; Vilor-Tejedor, N.; Medina-Gomez, C.; Bonilla, C.; Ahluwalia, T.S.; Bacelis, J.; Bradfield, J.P.; Tiesler, C.M.T.; Rivadeneira, F.; Ring, S.; Vissing, N.H.; Fink, N.R.; Jugessur, A.; Mentch, F.D.; Ballester, F.; Kriebel, J.; Kiefte-de Jong, J.C.; Wolsk, H.M.; Llop, S.; Thiering, E.; Beth, S.A.; Timpson, N.J.; Andersen, J.; Schulz, H.; Jaddoe, V.W.V.; Evans, D.M.; Waage, J.; Hakonarson, H.; Grant, S.F.A.; Jacobsson, B.; Bonnelykke, K.; Bisgaard, H.; Davey Smith, G.; Moll, H.A.; Heinrich, J.; Estivill, X.; Sunyer, J. url  doi
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  Title A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways Type Journal Article
  Year (down) 2016 Publication Human Molecular Genetics Abbreviated Journal Hum Mol Genet  
  Volume Issue Pages  
  Keywords  
  Abstract More than a million childhood diarrhoeal episodes occur worldwide each year, and in developed countries a considerable part of them are caused by viral infections. In this study, we aimed to search for genetic variants associated with diarrhoeal disease in young children by meta-analyzing genome-wide association studies, and to elucidate plausible biological mechanisms. The study was conducted in the context of the Early Genetics and Lifecourse Epidemiology (EAGLE) consortium. Data about diarrhoeal disease in two time windows (around 1 year of age and around 2 years of age) was obtained via parental questionnaires, doctor interviews or medical records. Standard quality control and statistical tests were applied to the 1000 Genomes imputed genotypic data. The meta-analysis (N = 5758) followed by replication (N = 3784) identified a genome-wide significant association between rs8111874 and diarrhoea at age 1 year. Conditional analysis suggested that the causal variant could be rs601338 (W154X) in the FUT2 gene. Children with the A allele, which results in a truncated FUT2 protein, had lower risk of diarrhoea. FUT2 participates in the production of histo-blood group antigens and has previously been implicated in the susceptibility to infections, including Rotavirus and Norovirus Gene-set enrichment analysis suggested pathways related to the histo-blood group antigen production, and the regulation of ion transport and blood pressure. Among others, the gastrointestinal tract, and the immune and neuro-secretory systems were detected as relevant organs. In summary, this genome-wide association meta-analysis suggests the implication of the FUT2 gene in diarrhoeal disease in young children from the general population.  
  Address ISGlobal, Center for Research in Environmental Epidemiology (CREAL), Barcelona, Spain Pompeu Fabra University (UPF), Barcelona, Spain CIBER Epidemiologia y Salud Publica (CIBERESP), Barcelona, Spain IMIM (Hospital del Mar Medical Research Institute), Barcelona, Spain  
  Corporate Author Thesis  
  Impact Factor 06,393 First Author Bustamante, M. Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Senior Author Sunyer, J.  
  ISSN 0964-6906 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:27559109 Approved no  
  Call Number Serial 327  
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