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Search: WFRF:(Masson Gisli)

  • Result 11-13 of 13
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11.
  • Swaminathan, Bhairavi, et al. (author)
  • Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.
  • 2015
  • In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 6, s. 1-8
  • Journal article (peer-reviewed)abstract
    • Multiple myeloma (MM) is characterized by an uninhibited, clonal growth of plasma cells. While first-degree relatives of patients with MM show an increased risk of MM, the genetic basis of inherited MM susceptibility is incompletely understood. Here we report a genome-wide association study in the Nordic region identifying a novel MM risk locus at ELL2 (rs56219066T; odds ratio (OR)=1.25; P=9.6 × 10(-10)). This gene encodes a stoichiometrically limiting component of the super-elongation complex that drives secretory-specific immunoglobulin mRNA production and transcriptional regulation in plasma cells. We find that the MM risk allele harbours a Thr298Ala missense variant in an ELL2 domain required for transcription elongation. Consistent with a hypomorphic effect, we find that the MM risk allele also associates with reduced levels of immunoglobulin A (IgA) and G (IgG) in healthy subjects (P=8.6 × 10(-9) and P=6.4 × 10(-3), respectively) and, potentially, with an increased risk of bacterial meningitis (OR=1.30; P=0.0024).
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12.
  • Thorleifsson, Gudmar, et al. (author)
  • Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
  • 2007
  • In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 317:5843, s. 1397-1400
  • Journal article (peer-reviewed)abstract
    • Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.
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13.
  • Thorleifsson, Gudmar, et al. (author)
  • Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
  • 2010
  • In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:10, s. 906-909
  • Journal article (peer-reviewed)abstract
    • We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[ A], odds ratio (OR) = 1.36, P = 5.0 x 10(-10)). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
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  • Result 11-13 of 13
Type of publication
journal article (13)
Type of content
peer-reviewed (13)
Author/Editor
Thorsteinsdottir, Un ... (13)
Stefansson, Kari (12)
Thorleifsson, Gudmar (10)
Sulem, Patrick (10)
Kong, Augustine (8)
Gudbjartsson, Daníel ... (8)
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Rafnar, Thorunn (6)
Sigurdsson, Asgeir (6)
Jonsdottir, Ingileif (5)
Stefánsson, Hreinn (5)
Kiemeney, Lambertus ... (4)
Holm, Hilma (4)
Steinthorsdottir, Va ... (4)
Olafsson, Isleifur (3)
Pedersen, Oluf (3)
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Andreassen, Ole A (2)
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Nilsson, Björn (2)
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Lindblom, Annika (2)
Wadelius, Claes (2)
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University
Lund University (7)
Uppsala University (5)
Karolinska Institutet (5)
University of Gothenburg (1)
Umeå University (1)
Stockholm University (1)
Language
English (13)
Research subject (UKÄ/SCB)
Medical and Health Sciences (10)

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