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Sökning: WFRF:(Beltran S) > (2015-2019) > Lunds universitet

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  • Lopez-Isac, E, et al. (författare)
  • GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
  • 2019
  • Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4955-
  • Tidskriftsartikel (refereegranskat)abstract
    • Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.
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  • Bull, Philip, et al. (författare)
  • Beyond ΛCDM : Problems, solutions, and the road ahead
  • 2016
  • Ingår i: Physics of the Dark Universe. - : Elsevier BV. - 2212-6864. ; 12, s. 56-99
  • Tidskriftsartikel (refereegranskat)abstract
    • Despite its continued observational successes, there is a persistent (and growing) interest in extending cosmology beyond the standard model, Lambda CDM. This is motivated by a range of apparently serious theoretical issues, involving such questions as the cosmological constant problem, the particle nature of dark matter, the validity of general relativity on large scales, the existence of anomalies in the CMB and on small scales, and the predictivity and testability of the inflationary paradigm. In this paper, we summarize the current status of Lambda CDM as a physical theory, and review investigations into possible alternatives along a number of different lines, with a particular focus on highlighting the most promising directions. While the fundamental problems are proving reluctant to yield, the study of alternative cosmologies has led to considerable progress, with much more to come if hopes about forthcoming high-precision observations and new theoretical ideas are fulfilled.
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