Search

Your search keyword '"Holm, Hilma"' showing total 6 results
Start Over Author "Holm, Hilma" Journal new england journal of medicine
6 results on '"Holm, Hilma"'

1. Humoral Immune Response to SARS-CoV-2 in Iceland

Author

Gudbjartsson, Daniel F., primary, Norddahl, Gudmundur L., additional, Melsted, Pall, additional, Gunnarsdottir, Kristbjorg, additional, Holm, Hilma, additional, Eythorsson, Elias, additional, Arnthorsson, Asgeir O., additional, Helgason, Dadi, additional, Bjarnadottir, Kristbjorg, additional, Ingvarsson, Ragnar F., additional, Thorsteinsdottir, Brynja, additional, Kristjansdottir, Steinunn, additional, Birgisdottir, Kolbrun, additional, Kristinsdottir, Anna M., additional, Sigurdsson, Martin I., additional, Arnadottir, Gudny A., additional, Ivarsdottir, Erna V., additional, Andresdottir, Margret, additional, Jonsson, Frosti, additional, Agustsdottir, Arna B., additional, Berglund, Jonas, additional, Eiriksdottir, Berglind, additional, Fridriksdottir, Run, additional, Gardarsdottir, Elisabet E., additional, Gottfredsson, Magnus, additional, Gretarsdottir, Olafia S., additional, Gudmundsdottir, Steinunn, additional, Gudmundsson, Kjartan R., additional, Gunnarsdottir, Thora R., additional, Gylfason, Arnaldur, additional, Helgason, Agnar, additional, Jensson, Brynjar O., additional, Jonasdottir, Aslaug, additional, Jonsson, Hakon, additional, Kristjansson, Thordur, additional, Kristinsson, Karl G., additional, Magnusdottir, Droplaug N., additional, Magnusson, Olafur T., additional, Olafsdottir, Lovisa B., additional, Rognvaldsson, Solvi, additional, le Roux, Louise, additional, Sigmundsdottir, Gudrun, additional, Sigurdsson, Asgeir, additional, Sveinbjornsson, Gardar, additional, Sveinsdottir, Kristin E., additional, Sveinsdottir, Maney, additional, Thorarensen, Emil A., additional, Thorbjornsson, Bjarni, additional, Thordardottir, Marianna, additional, Saemundsdottir, Jona, additional, Kristjansson, S. Hjortur, additional, Josefsdottir, Kamilla S., additional, Masson, Gisli, additional, Georgsson, Gudmundur, additional, Kristjansson, Mar, additional, Moller, Alma, additional, Palsson, Runolfur, additional, Gudnason, Thorolfur, additional, Thorsteinsdottir, Unnur, additional, Jonsdottir, Ingileif, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional

Published
2020
Full Text
View/download PDF

2. Spread of SARS-CoV-2 in the Icelandic Population

Author

Gudbjartsson, Daniel F., primary, Helgason, Agnar, additional, Jonsson, Hakon, additional, Magnusson, Olafur T., additional, Melsted, Pall, additional, Norddahl, Gudmundur L., additional, Saemundsdottir, Jona, additional, Sigurdsson, Asgeir, additional, Sulem, Patrick, additional, Agustsdottir, Arna B., additional, Eiriksdottir, Berglind, additional, Fridriksdottir, Run, additional, Gardarsdottir, Elisabet E., additional, Georgsson, Gudmundur, additional, Gretarsdottir, Olafia S., additional, Gudmundsson, Kjartan R., additional, Gunnarsdottir, Thora R., additional, Gylfason, Arnaldur, additional, Holm, Hilma, additional, Jensson, Brynjar O., additional, Jonasdottir, Aslaug, additional, Jonsson, Frosti, additional, Josefsdottir, Kamilla S., additional, Kristjansson, Thordur, additional, Magnusdottir, Droplaug N., additional, le Roux, Louise, additional, Sigmundsdottir, Gudrun, additional, Sveinbjornsson, Gardar, additional, Sveinsdottir, Kristin E., additional, Sveinsdottir, Maney, additional, Thorarensen, Emil A., additional, Thorbjornsson, Bjarni, additional, Löve, Arthur, additional, Masson, Gisli, additional, Jonsdottir, Ingileif, additional, Möller, Alma D., additional, Gudnason, Thorolfur, additional, Kristinsson, Karl G., additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2020
Full Text
View/download PDF

3. VariantASGR1Associated with a Reduced Risk of Coronary Artery Disease

Author

Nioi, Paul, primary, Sigurdsson, Asgeir, additional, Thorleifsson, Gudmar, additional, Helgason, Hannes, additional, Agustsdottir, Arna B., additional, Norddahl, Gudmundur L., additional, Helgadottir, Anna, additional, Magnusdottir, Audur, additional, Jonasdottir, Aslaug, additional, Gretarsdottir, Solveig, additional, Jonsdottir, Ingileif, additional, Steinthorsdottir, Valgerdur, additional, Rafnar, Thorunn, additional, Swinkels, Dorine W., additional, Galesloot, Tessel E., additional, Grarup, Niels, additional, Jørgensen, Torben, additional, Vestergaard, Henrik, additional, Hansen, Torben, additional, Lauritzen, Torsten, additional, Linneberg, Allan, additional, Friedrich, Nele, additional, Krarup, Nikolaj T., additional, Fenger, Mogens, additional, Abildgaard, Ulrik, additional, Hansen, Peter R., additional, Galløe, Anders M., additional, Braund, Peter S., additional, Nelson, Christopher P., additional, Hall, Alistair S., additional, Williams, Michael J.A., additional, van Rij, Andre M., additional, Jones, Gregory T., additional, Patel, Riyaz S., additional, Levey, Allan I., additional, Hayek, Salim, additional, Shah, Svati H., additional, Reilly, Muredach, additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Kiemeney, Lambertus A., additional, Quyyumi, Arshed A., additional, Rader, Daniel J., additional, Kraus, William E., additional, Samani, Nilesh J., additional, Pedersen, Oluf, additional, Thorgeirsson, Gudmundur, additional, Masson, Gisli, additional, Holm, Hilma, additional, Gudbjartsson, Daniel, additional, Sulem, Patrick, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2016
Full Text
View/download PDF

4. Homozygosity for R47H in TREM2 and the Risk of Alzheimer's Disease.

Author

Stefansson H, Walters GB, Sveinbjornsson G, Tragante V, Einarsson G, Helgason H, Sigurðsson A, Beyter D, Snaebjarnarson AS, Ivarsdottir EV, Thorleifsson G, Halldorsson BV, Norddahl G, Styrkarsdottir U, Sturluson A, Holm H, Helgason A, Moore K, Eggertsson HP, Oddsson AH, Jonsdottir GA, Gunnarsson AF, Bjornsdottir G, Gisladottir RS, Thorgeirsson TE, Skuladottir A, Gudbjartsson DF, Sulem P, Jonsson P, Thordardottir S, Snaedal J, Eyjolfsdottir H, Creese B, Ballard C, Corbett A, Vasconcelos Da Silva M, Aarsland D, Andreassen OA, Selbæk G, Djurovic S, Stordal E, Fladby T, Haavik J, Igland J, Giil LM, Eriksson S, Hallmans G, Lövheim H, Lopatko Lindman K, Trupp M, Forsgren L, Werge T, Banasik K, Brunak S, Ullum H, Frikke-Schmidt R, Ostrowski SR, Didriksen M, Sørensen E, Simonsen AH, Nielsen JE, Waldemar G, Pedersen OB, Erikstrup C, Knowlton KU, Nadauld LD, and Stefansson K

Subjects
Aged, Female, Humans, Male, Apolipoproteins E metabolism, Cholesterol, LDL metabolism, Clusterin metabolism, Genetic Predisposition to Disease genetics, Homozygote, Mutation, Missense, Alzheimer Disease ethnology, Alzheimer Disease genetics, Alzheimer Disease metabolism, Membrane Glycoproteins genetics, Membrane Glycoproteins metabolism, Receptors, Immunologic genetics, Receptors, Immunologic metabolism
Published
2024
Full Text
View/download PDF

5. Actionable Genotypes and Their Association with Life Span in Iceland.

Author

Jensson BO, Arnadottir GA, Katrinardottir H, Fridriksdottir R, Helgason H, Oddsson A, Sveinbjornsson G, Eggertsson HP, Halldorsson GH, Atlason BA, Jonsson H, Oskarsson GR, Sturluson A, Gudjonsson SA, Thorisson GA, Zink F, Moore KHS, Palsson G, Sigurdsson A, Jonasdottir A, Jonasdottir A, Magnusson MK, Helgadottir A, Steinthorsdottir V, Gudmundsson J, Stacey SN, Hilmarsson R, Olafsson I, Johannsson OT, Arnar DO, Saemundsdottir J, Magnusson OT, Masson G, Halldorsson BV, Helgason A, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Thorsteinsdottir U, Gudbjartsson DF, Stefansson K, and Sulem P

Subjects
Humans, Alleles, Genetic Testing, Genetic Variation, Genotype, Iceland epidemiology, Cardiovascular Diseases genetics, Neoplasms genetics, Genomics, Longevity genetics, Disease genetics
Abstract

Background: In 2021, the American College of Medical Genetics and Genomics (ACMG) recommended reporting actionable genotypes in 73 genes associated with diseases for which preventive or therapeutic measures are available. Evaluations of the association of actionable genotypes in these genes with life span are currently lacking., Methods: We assessed the prevalence of coding and splice variants in genes on the ACMG Secondary Findings, version 3.0 (ACMG SF v3.0), list in the genomes of 57,933 Icelanders. We assigned pathogenicity to all reviewed variants using reported evidence in the ClinVar database, the frequency of variants, and their associations with disease to create a manually curated set of actionable genotypes (variants). We assessed the relationship between these genotypes and life span and further examined the specific causes of death among carriers., Results: Through manual curation of 4405 sequence variants in the ACMG SF v3.0 genes, we identified 235 actionable genotypes in 53 genes. Of the 57,933 participants, 2306 (4.0%) carried at least one actionable genotype. We found shorter median survival among persons carrying actionable genotypes than among noncarriers. Specifically, we found that carrying an actionable genotype in a cancer gene was associated with survival that was 3 years shorter than that among noncarriers, with causes of death among carriers attributed primarily to cancer-related conditions. Furthermore, we found evidence of association between carrying an actionable genotype in certain genes in the cardiovascular disease group and a reduced life span., Conclusions: On the basis of the ACMG SF v3.0 guidelines, we found that approximately 1 in 25 Icelanders carried an actionable genotype and that carrying such a genotype was associated with a reduced life span. (Funded by deCODE Genetics-Amgen.)., (Copyright © 2023 Massachusetts Medical Society.)

Published
2023
Full Text
View/download PDF

6. Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.

Author

Nioi P, Sigurdsson A, Thorleifsson G, Helgason H, Agustsdottir AB, Norddahl GL, Helgadottir A, Magnusdottir A, Jonasdottir A, Gretarsdottir S, Jonsdottir I, Steinthorsdottir V, Rafnar T, Swinkels DW, Galesloot TE, Grarup N, Jørgensen T, Vestergaard H, Hansen T, Lauritzen T, Linneberg A, Friedrich N, Krarup NT, Fenger M, Abildgaard U, Hansen PR, Galløe AM, Braund PS, Nelson CP, Hall AS, Williams MJ, van Rij AM, Jones GT, Patel RS, Levey AI, Hayek S, Shah SH, Reilly M, Eyjolfsson GI, Sigurdardottir O, Olafsson I, Kiemeney LA, Quyyumi AA, Rader DJ, Kraus WE, Samani NJ, Pedersen O, Thorgeirsson G, Masson G, Holm H, Gudbjartsson D, Sulem P, Thorsteinsdottir U, and Stefansson K

Subjects
Adult, Aged, Aged, 80 and over, Base Sequence, Female, Genetic Predisposition to Disease, Humans, Iceland, Kaplan-Meier Estimate, Male, Middle Aged, Molecular Sequence Data, Myocardial Infarction genetics, Risk, Sequence Analysis, DNA, White People genetics, Asialoglycoprotein Receptor genetics, Cholesterol blood, Coronary Artery Disease genetics, Haploinsufficiency
Abstract

Background: Several sequence variants are known to have effects on serum levels of non-high-density lipoprotein (HDL) cholesterol that alter the risk of coronary artery disease., Methods: We sequenced the genomes of 2636 Icelanders and found variants that we then imputed into the genomes of approximately 398,000 Icelanders. We tested for association between these imputed variants and non-HDL cholesterol levels in 119,146 samples. We then performed replication testing in two populations of European descent. We assessed the effects of an implicated loss-of-function variant on the risk of coronary artery disease in 42,524 case patients and 249,414 controls from five European ancestry populations. An augmented set of genomes was screened for additional loss-of-function variants in a target gene. We evaluated the effect of an implicated variant on protein stability., Results: We found a rare noncoding 12-base-pair (bp) deletion (del12) in intron 4 of ASGR1, which encodes a subunit of the asialoglycoprotein receptor, a lectin that plays a role in the homeostasis of circulating glycoproteins. The del12 mutation activates a cryptic splice site, leading to a frameshift mutation and a premature stop codon that renders a truncated protein prone to degradation. Heterozygous carriers of the mutation (1 in 120 persons in our study population) had a lower level of non-HDL cholesterol than noncarriers, a difference of 15.3 mg per deciliter (0.40 mmol per liter) (P=1.0×10(-16)), and a lower risk of coronary artery disease (by 34%; 95% confidence interval, 21 to 45; P=4.0×10(-6)). In a larger set of sequenced samples from Icelanders, we found another loss-of-function ASGR1 variant (p.W158X, carried by 1 in 1850 persons) that was also associated with lower levels of non-HDL cholesterol (P=1.8×10(-3))., Conclusions: ASGR1 haploinsufficiency was associated with reduced levels of non-HDL cholesterol and a reduced risk of coronary artery disease. (Funded by the National Institutes of Health and others.).

Published
2016
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results