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Träfflista för sökning "WFRF:(Quintana Murci L) ;pers:(Quintana Murci L)"

Sökning: WFRF:(Quintana Murci L) > Quintana Murci L

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  • Clark, DW, et al. (författare)
  • Associations of autozygosity with a broad range of human phenotypes
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
  • Tidskriftsartikel (refereegranskat)abstract
    • In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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  • Bergstedt, J, et al. (författare)
  • The immune factors driving DNA methylation variation in human blood
  • 2022
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1, s. 5895-
  • Tidskriftsartikel (refereegranskat)abstract
    • Epigenetic changes are required for normal development, yet the nature and respective contribution of factors that drive epigenetic variation in humans remain to be fully characterized. Here, we assessed how the blood DNA methylome of 884 adults is affected by DNA sequence variation, age, sex and 139 factors relating to life habits and immunity. Furthermore, we investigated whether these effects are mediated or not by changes in cellular composition, measured by deep immunophenotyping. We show that DNA methylation differs substantially between naïve and memory T cells, supporting the need for adjustment on these cell-types. By doing so, we find that latent cytomegalovirus infection drives DNA methylation variation and provide further support that the increased dispersion of DNA methylation with aging is due to epigenetic drift. Finally, our results indicate that cellular composition and DNA sequence variation are the strongest predictors of DNA methylation, highlighting critical factors for medical epigenomics studies.
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  • Brodin, P, et al. (författare)
  • A Call for Blood-In Human Immunology
  • 2019
  • Ingår i: Immunity. - : Elsevier BV. - 1097-4180 .- 1074-7613. ; 50:6, s. 1335-1336
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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