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Träfflista för sökning "WFRF:(Igl Wilmar) srt2:(2009)"

Search: WFRF:(Igl Wilmar) > (2009)

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1.
  • Hicks, Andrew A., et al. (author)
  • Genetic determinants of circulating sphingolipid concentrations in European populations
  • 2009
  • In: PLoS genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 5:10, s. e1000672-
  • Journal article (peer-reviewed)abstract
    • Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic consequences. Increasingly, variants within a few of the genes that encode enzymes involved in sphingolipid metabolism are being associated with complex disease phenotypes. Direct experimental evidence supports a role of specific sphingolipid species in several common complex chronic disease processes including atherosclerotic plaque formation, myocardial infarction (MI), cardiomyopathy, pancreatic β-cell failure, insulin resistance, and type 2 diabetes mellitus. Therefore, sphingolipids represent novel and important intermediate phenotypes for genetic analysis, yet little is known about the major genetic variants that influence their circulating levels in the general population. We performed a genome-wide association study (GWAS) between 318,237 single-nucleotide polymorphisms (SNPs) and levels of circulating sphingomyelin (SM), dihydrosphingomyelin (Dih-SM), ceramide (Cer), and glucosylceramide (GluCer) single lipid species (33 traits); and 43 matched metabolite ratios measured in 4,400 subjects from five diverse European populations. Associated variants (32) in five genomic regions were identified with genome-wide significant corrected p-values ranging down to 9.08×10−66. The strongest associations were observed in or near 7 genes functionally involved in ceramide biosynthesis and trafficking: SPTLC3, LASS4, SGPP1, ATP10D, and FADS1–3. Variants in 3 loci (ATP10D, FADS3, and SPTLC3) associate with MI in a series of three German MI studies. An additional 70 variants across 23 candidate genes involved in sphingolipid-metabolizing pathways also demonstrate association (p = 10−4 or less). Circulating concentrations of several key components in sphingolipid metabolism are thus under strong genetic control, and variants in these loci can be tested for a role in the development of common cardiovascular, metabolic, neurological, and psychiatric diseases.
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2.
  • Nisell, Margret, et al. (author)
  • Social Issues Among Children With High or Intermediate Imperforate Anus : A Proxy Perspective
  • 2009
  • In: Journal of Child and Adolescent Psychiatric Nursing. - Oxford : Wiley-Blackwell. - 1073-6077 .- 1744-6171. ; 22:3, s. 132-142
  • Journal article (peer-reviewed)abstract
    • PROBLEM:  Children with imperforate anus (IA) may be psychosocially affected.METHODS:  Parents of children with IA and parents in two comparison groups rated their children using a study-specific questionnaire and the Competence Scales in the Child Behavior Checklist (CBCL). Teachers rated Academic and Adaptive Functioning Scales in the Teacher's Report Form (TRF).FINDINGS:  School items were rated favorably by the fathers of children with IA, and mothers reported less expression of their children's will. Children with IA were socially competent according to CBCL, although they received lower ratings on the TRF.CONCLUSIONS:  Psychosocial issues seem to be challenging for children with IA, and this needs attention in care management.
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