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Träfflista för sökning "WFRF:(Furlotte Nicholas A.) ;pers:(Martin Nicholas G.)"

Search: WFRF:(Furlotte Nicholas A.) > Martin Nicholas G.

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1.
  • Smith, Jennifer A, et al. (author)
  • Genome-wide association study identifies 74 loci associated with educational attainment
  • 2016
  • In: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
  • Journal article (peer-reviewed)abstract
    • Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
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2.
  • Dudding, Tom, et al. (author)
  • Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci
  • 2019
  • In: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 10, s. 1-12
  • Journal article (peer-reviewed)abstract
    • Mouth ulcers are the most common ulcerative condition and encompass several clinical diagnoses, including recurrent aphthous stomatitis (RAS). Despite previous evidence for heritability, it is not clear which specific genetic loci are implicated in RAS. In this genome-wide association study (n = 461,106) heritability is estimated at 8.2% (95% CI: 6.4%, 9.9%). This study finds 97 variants which alter the odds of developing non-specific mouth ulcers and replicate these in an independent cohort (n = 355,744) (lead variant after meta-analysis: rs76830965, near IL12A, OR 0.72 (95% CI: 0.71, 0.73); P = 4.4e-483). Additional effect estimates from three independent cohorts with more specific phenotyping and specific study characteristics support many of these findings. In silico functional analyses provide evidence for a role of T cell regulation in the aetiology of mouth ulcers. These results provide novel insight into the pathogenesis of a common, important condition.
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journal article (2)
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peer-reviewed (2)
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Martin, Nicholas... (2)Undo refine
Franke, Barbara (1)
Wang, Xin (1)
Jacobsson, Bo, 1960 (1)
Salomaa, Veikko (1)
Perola, Markus (1)
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Johannesson, Magnus (1)
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Staessen, Jan A (1)
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Lee, James J. (1)
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Boomsma, Dorret I. (1)
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Samani, Nilesh J. (1)
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University
University of Gothenburg (1)
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Stockholm School of Economics (1)
Karolinska Institutet (1)
Language
English (2)
Research subject (UKÄ/SCB)
Medical and Health Sciences (2)
Natural sciences (1)

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