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Sökning: WFRF:(Moll Henriette A) > Refereegranskat

  • Resultat 1-4 av 4
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1.
  • Kurilshikov, Alexander, et al. (författare)
  • Large-scale association analyses identify host factors influencing human gut microbiome composition
  • 2021
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 53:2, s. 156-165
  • Tidskriftsartikel (refereegranskat)abstract
    • To study the effect of host genetics on gut microbiome composition, the MiBioGen consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome data from 18,340 individuals (24 cohorts). Microbial composition showed high variability across cohorts: only 9 of 410 genera were detected in more than 95% of samples. A genome-wide association study of host genetic variation regarding microbial taxa identified 31 loci affecting the microbiome at a genome-wide significant (P < 5 x 10(-8)) threshold. One locus, the lactase (LCT) gene locus, reached study-wide significance (genome-wide association study signal: P = 1.28 x 10(-20)), and it showed an age-dependent association with Bifidobacterium abundance. Other associations were suggestive (1.95 x 10(-10) < P < 5 x 10(-8)) but enriched for taxa showing high heritability and for genes expressed in the intestine and brain. A phenome-wide association study and Mendelian randomization identified enrichment of microbiome trait loci in the metabolic, nutrition and environment domains and suggested the microbiome might have causal effects in ulcerative colitis and rheumatoid arthritis.
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2.
  • Bustamante, Mariona, et al. (författare)
  • A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.
  • 2016
  • Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 25:18, s. 4127-4142
  • Tidskriftsartikel (refereegranskat)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.
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3.
  • Verhaegh, Suzanne J. C., et al. (författare)
  • Temporal development of the humoral immune response to surface antigens of Moraxella catarrhalis in young infants
  • 2011
  • Ingår i: Vaccine. - : Elsevier BV. - 1873-2518 .- 0264-410X. ; 29:34, s. 5603-5610
  • Tidskriftsartikel (refereegranskat)abstract
    • The primary Moraxella catarrha/is-specific humoral immune response, and its association with nasopharyngeal colonization, was studied in a cohort of infants from birth to 2 years of age. Results indicated that the levels of antigen-specific IgG, IgA and IgM showed extensive inter-individual variability over time, with IgM and IgA levels to all 9 recombinant domains, from 7 different OMPs, being relatively low throughout the study period. In contrast, the level of antigen-specific IgG was significantly higher for the recombinant domains Hag(385-863), MID764-913, MID962-1200, UspA1(557-704) and UspA2(165-318) in cord blood compared to 6 months of age (P <= 0.001). This was a most likely a consequence of maternal transmission of antigen-specific IgG to newborn babies, possibly indicating a future role for these 3 surface antigens in the development of an effective humoral immune response to M. catarrhalis. Finally, at 2 years of age, the levels of antigen-specific IgG still remained far below that obtained from cord blood samples, indicating that the immune response to M. catarrhalis has not matured at 2 years of age. We provide evidence that a humoral antibody response to OMPs UspA1,UspA2 and Hag/MID may play a role in the immune response to community acquired M. catarrhalis colonization events. (C) 2011 Elsevier Ltd. All rights reserved.
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4.
  • Tan, Chantal D, et al. (författare)
  • Parental help-seeking behaviour for, and care of, a sick or injured child during the COVID-19 pandemic: a European online survey
  • 2023
  • Ingår i: BMC Health Services Research. - 1472-6963. ; 23
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundGlobally, the COVID-19 pandemic had a huge impact on patients and healthcare systems. A decline in paediatric visits to healthcare settings was observed, which might have been due to lower incidence of injury and infectious illness, changes in healthcare services and parental concern. The aim of our study was to examine parental experiences of help-seeking for, and care of, a sick or injured child during COVID-19 lockdown periods in five European countries with different healthcare systems in place.MethodsAn online survey for parents with a child with any kind or illness of injury during COVID-19 lockdowns was circulated through social media in five European countries: Italy, Spain, Sweden, the Netherlands, and the United Kingdom. Parents living in one of these countries with self-identification of a sick or injured child during COVID-19 lockdown periods were eligible to fill in the survey. Descriptive statistics were used for the level of restrictions per country, children’s characteristics, family characteristics and reported help-seeking behaviour of parents prior to the lockdown and their real experience during the lockdown. The free text data was subjected to thematic analysis.ResultsThe survey was fully completed by 598 parents, ranging from 50 to 198 parents per country, during varying lockdown periods from March 2020 until May 2022. Parents who completed the survey were not deterred from seeking medical help for their sick or injured child during the COVID-19 pandemic. This finding was comparable in five European countries with different healthcare systems in place. Thematic analysis identified three main areas: parental experiences of access to healthcare, changes in parents’ help-seeking behaviours for a sick or injured child during lockdowns, and the impact of caring for a sick or injured child during the lockdowns. Parents reported limited access to non-urgent care services and were anxious about either their child or themselves catching COVID-19.ConclusionThis insight into parental perspectives of help-seeking behaviour and care for a sick or injured child during COVID-19 lockdowns could inform future strategies to improve access to healthcare, and to provide parents with adequate information concerning when and where to seek help and support during pandemics.
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