Publications by authors named "Grimur Hjorleifsson Eldjarn"

Article Synopsis
  • Multiple myeloma (MM) is a type of cancer affecting plasma cells, with a significant genetic component that is not fully understood.
  • A large genome-wide study identified 35 risk loci related to MM, including 12 new ones, and revealed two main inherited risk factors: longer telomeres and higher levels of B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha (IL5RA) in the blood.
  • The genetic variant rs34562254-A increases the risk of MM by enhancing B-cell responses, contrasting with loss-of-function variants in TNFRSF13B that lead to B-cell immunodeficiency.
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Autoimmune thyroid disease (AITD) is a common autoimmune disease. In a GWAS meta-analysis of 110,945 cases and 1,084,290 controls, 290 sequence variants at 225 loci are associated with AITD. Of these variants, 115 are previously unreported.

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Article Synopsis
  • Migraine is a complicated neurovascular condition with varying symptoms, traditionally studied as a single type in genome-wide association studies (GWAS), but this research focuses on two main subtypes: migraine with aura (MA) and migraine without aura (MO).
  • The study analyzed large datasets from six European populations, identifying four new gene variants associated with MA and classifying 13 variants for MO, highlighting a significant frameshift variant in PRRT2 linked to MA and epilepsy.
  • Additionally, testing on rare variants showed that loss-of-function mutations in SCN11A provide strong protection against migraine, while another variant affecting KCNK5 offers large protection against both migraine and brain aneurysms, suggesting new avenues for treatment.
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High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge the gap between the genome and diseases. Here we performed association studies of Olink Explore 3072 data generated by the UK Biobank Pharma Proteomics Project on plasma samples from more than 50,000 UK Biobank participants with phenotypic and genotypic data, stratifying on British or Irish, African and South Asian ancestries. We compared the results with those of a SomaScan v4 study on plasma from 36,000 Icelandic people, for 1,514 of whom Olink data were also available.

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Importance: Whether protein risk scores derived from a single plasma sample could be useful for risk assessment for atherosclerotic cardiovascular disease (ASCVD), in conjunction with clinical risk factors and polygenic risk scores, is uncertain.

Objective: To develop protein risk scores for ASCVD risk prediction and compare them to clinical risk factors and polygenic risk scores in primary and secondary event populations.

Design, Setting, And Participants: The primary analysis was a retrospective study of primary events among 13 540 individuals in Iceland (aged 40-75 years) with proteomics data and no history of major ASCVD events at recruitment (study duration, August 23, 2000 until October 26, 2006; follow-up through 2018).

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Urticaria is a skin disorder characterized by outbreaks of raised pruritic wheals. In order to identify sequence variants associated with urticaria, we performed a meta-analysis of genome-wide association studies for urticaria with a total of 40,694 cases and 1,230,001 controls from Iceland, the UK, Finland, and Japan. We also performed transcriptome- and proteome-wide analyses in Iceland and the UK.

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Specialised metabolites from microbial sources are well-known for their wide range of biomedical applications, particularly as antibiotics. When mining paired genomic and metabolomic data sets for novel specialised metabolites, establishing links between Biosynthetic Gene Clusters (BGCs) and metabolites represents a promising way of finding such novel chemistry. However, due to the lack of detailed biosynthetic knowledge for the majority of predicted BGCs, and the large number of possible combinations, this is not a simple task.

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Biosynthetic and chemical datasets are the two major pillars for microbial drug discovery in the era. Despite the advancement of analysis tools and platforms for multi-strain metabolomics and genomics, linking these information sources remains a considerable bottleneck in strain prioritisation and natural product discovery. In this study, molecular networking of the 100 metabolite extracts derived from applying the OSMAC approach to 25 Polar bacterial strains, showed growth media specificity and potential chemical novelty was suggested.

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Secondary metabolites can be viewed as a chemical language, facilitating communication between microorganisms. From an ecological point of view, this metabolite exchange is in constant flux due to evolutionary and environmental pressures. From a biomedical perspective, the chemistry is unsurpassed for its antibiotic properties.

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