Publications by authors named "V Haraldsdottir"

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.

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Genetic variations in the hyaluronan synthase 1 gene (HAS1) influence HAS1 aberrant splicing. HAS1 is aberrantly spliced in malignant cells from multiple myeloma (MM) and Waldenstrom macroglobulinemia (WM), but not in their counterparts from healthy donors. The presence of aberrant HAS1 splice variants predicts for poor survival in multiple myeloma (MM).

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Monoclonal gammopathies are associated with advancing age but a familial predisposition has been recognized for several decades. A functional phenotype, characterized by increased immunoglobulin (Ig) production after mitogen stimulation has been identified in healthy members of 4 families showing a predisposition toward IgM and IgG/IgA disorders. B cells from these hyperresponders do not show increased rates of Ig gene translocations and no aberrations were detected in an in vitro model of the germinal center reaction.

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Article Synopsis
  • The study explores how variations in the LPA gene impact vascular diseases, focusing on conditions that involve atherosclerosis (plaque build-up in arteries) and thrombosis (blood clots).
  • Researchers analyzed specific LPA variants in a large sample size across various vascular diseases, including ischemic stroke and coronary artery disease (CAD).
  • The findings suggest that these LPA variants are linked primarily to atherosclerotic diseases rather than thrombotic conditions, showing a greater risk for early onset and severity of CAD manifestations in individuals with certain genetic variations.
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