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221 results on '"Halldorsson, Bjarni V"'

1. Complete human recombination maps

Author

Palsson, Gunnar, Hardarson, Marteinn T., Jonsson, Hakon, Steinthorsdottir, Valgerdur, Stefansson, Olafur A., Eggertsson, Hannes P., Gudjonsson, Sigurjon A., Olason, Pall I., Gylfason, Arnaldur, Masson, Gisli, Thorsteinsdottir, Unnur, Sulem, Patrick, Helgason, Agnar, Gudbjartsson, Daniel F., Halldorsson, Bjarni V., and Stefansson, Kari

Published
2025
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2. Sequence variants influencing the regulation of serum IgG subclass levels

Author

Olafsdottir, Thorunn A., Thorleifsson, Gudmar, Lopez de Lapuente Portilla, Aitzkoa, Jonsson, Stefan, Stefansdottir, Lilja, Niroula, Abhishek, Jonasdottir, Aslaug, Eggertsson, Hannes P., Halldorsson, Gisli H., Thorlacius, Gudny E., Arnthorsson, Asgeir O., Bjornsdottir, Unnur S., Asselbergs, Folkert W., Bentlage, Arthur E. H., Eyjolfsson, Gudmundur I., Gudmundsdottir, Steinunn, Gunnarsdottir, Kristbjorg, Halldorsson, Bjarni V., Holm, Hilma, Ludviksson, Bjorn R., Melsted, Pall, Norddahl, Gudmundur L., Olafsson, Isleifur, Saevarsdottir, Saedis, Sigurdardottir, Olof, Sigurdsson, Asgeir, Temming, Robin, Önundarson, Pall T., Thorsteinsdottir, Unnur, Vidarsson, Gestur, Sulem, Patrick, Gudbjartsson, Daniel F., Jonsdottir, Ingileif, Nilsson, Björn, and Stefansson, Kari

Published
2024
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4. Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination

Author

Steinthorsdottir, Valgerdur, Halldorsson, Bjarni V., Jonsson, Hakon, Palsson, Gunnar, Oddsson, Asmundur, Westergaard, David, Arnadottir, Gudny A., Stefansdottir, Lilja, Banasik, Karina, Esplin, M. Sean, Hansen, Thomas Folkmann, Brunak, Søren, Nyegaard, Mette, Ostrowski, Sisse Rye, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Thorleifsson, Gudmar, Nadauld, Lincoln D., Haraldsson, Asgeir, Steingrimsdottir, Thora, Tryggvadottir, Laufey, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., Hoffmann, Eva R., Sulem, Patrick, Holm, Hilma, Nielsen, Henriette Svarre, and Stefansson, Kari

Published
2024
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5. Large-scale plasma proteomics comparisons through genetics and disease associations

Author

Eldjarn, Grimur Hjorleifsson, Ferkingstad, Egil, Lund, Sigrun H., Helgason, Hannes, Magnusson, Olafur Th., Gunnarsdottir, Kristbjorg, Olafsdottir, Thorunn A., Halldorsson, Bjarni V., Olason, Pall I., Zink, Florian, Gudjonsson, Sigurjon A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Gisli H., Magnusson, Magnus K., Saevarsdottir, Saedis, Eiriksdottir, Thjodbjorg, Masson, Gisli, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Thorleifsson, Gudmar, Ulfarsson, Magnus O., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2023
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6. Author Correction: Large-scale plasma proteomics comparisons through genetics and disease associations

Author

Eldjarn, Grimur Hjorleifsson, Ferkingstad, Egil, Lund, Sigrun H., Helgason, Hannes, Magnusson, Olafur Th., Gunnarsdottir, Kristbjorg, Olafsdottir, Thorunn A., Halldorsson, Bjarni V., Olason, Pall I., Zink, Florian, Gudjonsson, Sigurjon A., Sveinbjornsson, Gardar, Magnusson, Magnus I., Helgason, Agnar, Oddsson, Asmundur, Halldorsson, Gisli H., Magnusson, Magnus K., Saevarsdottir, Saedis, Eiriksdottir, Thjodbjorg, Masson, Gisli, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Melsted, Pall, Saemundsdottir, Jona, Norddahl, Gudmundur L., Thorleifsson, Gudmar, Ulfarsson, Magnus O., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2024
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7. Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria

Author

Kristjansson, Ragnar P., Oskarsson, Gudjon R., Skuladottir, Astros, Oddsson, Asmundur, Rognvaldsson, Solvi, Sveinbjornsson, Gardar, Lund, Sigrun H., Jensson, Brynjar O., Styrmisdottir, Edda L., Halldorsson, Gisli H., Ferkingstad, Egil, Eldjarn, Grimur Hjorleifsson, Beyter, Doruk, Kristmundsdottir, Snædis, Juliusson, Kristinn, Fridriksdottir, Run, Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Snorradottir, Margret H., Tragante, Vinicius, Stefansdottir, Lilja, Ivarsdottir, Erna V., Bjornsdottir, Gyda, Halldorsson, Bjarni V., Thorleifsson, Gudmar, Ludviksson, Bjorn R., Onundarson, Pall T., Saevarsdottir, Saedis, Melsted, Pall, Norddahl, Gudmundur L., Bjornsdottir, Unnur S., Olafsdottir, Thorunn, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari

Published
2023
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8. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

Author

Oddsson, Asmundur, Sulem, Patrick, Sveinbjornsson, Gardar, Arnadottir, Gudny A., Steinthorsdottir, Valgerdur, Halldorsson, Gisli H., Atlason, Bjarni A., Oskarsson, Gudjon R., Helgason, Hannes, Nielsen, Henriette Svarre, Westergaard, David, Karjalainen, Juha M., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jensson, Brynjar O., Tragante, Vinicius, Ferkingstad, Egil, Jonsson, Hakon, Gudjonsson, Sigurjon A., Beyter, Doruk, Moore, Kristjan H. S., Thordardottir, Helga B., Kristmundsdottir, Snaedis, Stefansson, Olafur A., Rantapää-Dahlqvist, Solbritt, Sonderby, Ida Elken, Didriksen, Maria, Stridh, Pernilla, Haavik, Jan, Tryggvadottir, Laufey, Frei, Oleksandr, Walters, G. Bragi, Kockum, Ingrid, Hjalgrim, Henrik, Olafsdottir, Thorunn A., Selbaek, Geir, Nyegaard, Mette, Erikstrup, Christian, Brodersen, Thorsten, Saevarsdottir, Saedis, Olsson, Tomas, Nielsen, Kaspar Rene, Haraldsson, Asgeir, Bruun, Mie Topholm, Hansen, Thomas Folkmann, Steingrimsdottir, Thora, Jacobsen, Rikke Louise, Lie, Rolv T., Djurovic, Srdjan, Alfredsson, Lars, Lopez de Lapuente Portilla, Aitzkoa, Brunak, Soren, Melsted, Pall, Halldorsson, Bjarni V., Saemundsdottir, Jona, Magnusson, Olafur Th., Padyukov, Leonid, Banasik, Karina, Rafnar, Thorunn, Askling, Johan, Klareskog, Lars, Pedersen, Ole Birger, Masson, Gisli, Havdahl, Alexandra, Nilsson, Bjorn, Andreassen, Ole A., Daly, Mark, Ostrowski, Sisse Rye, Jonsdottir, Ingileif, Stefansson, Hreinn, Holm, Hilma, Helgason, Agnar, Thorsteinsdottir, Unnur, Stefansson, Kari, and Gudbjartsson, Daniel F.

Published
2023
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9. Sequence variants affecting the genome-wide rate of germline microsatellite mutations

Author

Kristmundsdottir, Snaedis, Jonsson, Hakon, Hardarson, Marteinn T., Palsson, Gunnar, Beyter, Doruk, Eggertsson, Hannes P., Gylfason, Arnaldur, Sveinbjornsson, Gardar, Holley, Guillaume, Stefansson, Olafur A., Halldorsson, Gisli H., Olafsson, Sigurgeir, Arnadottir, Gudny. A., Olason, Pall I., Eiriksson, Ogmundur, Masson, Gisli, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Sulem, Patrick, Helgason, Agnar, Gudbjartsson, Daniel F., Halldorsson, Bjarni V., and Stefansson, Kari

Published
2023
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10. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

Author

Oddsson, Asmundur, Sulem, Patrick, Sveinbjornsson, Gardar, Arnadottir, Gudny A., Steinthorsdottir, Valgerdur, Halldorsson, Gisli H., Atlason, Bjarni A., Oskarsson, Gudjon R., Helgason, Hannes, Nielsen, Henriette Svarre, Westergaard, David, Karjalainen, Juha M., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jensson, Brynjar O., Tragante, Vinicius, Ferkingstad, Egil, Jonsson, Hakon, Gudjonsson, Sigurjon A., Beyter, Doruk, Moore, Kristjan H. S., Thordardottir, Helga B., Kristmundsdottir, Snaedis, Stefansson, Olafur A., Rantapää-Dahlqvist, Solbritt, Sonderby, Ida Elken, Didriksen, Maria, Stridh, Pernilla, Haavik, Jan, Tryggvadottir, Laufey, Frei, Oleksandr, Walters, G. Bragi, Kockum, Ingrid, Hjalgrim, Henrik, Olafsdottir, Thorunn A., Selbaek, Geir, Nyegaard, Mette, Erikstrup, Christian, Brodersen, Thorsten, Saevarsdottir, Saedis, Olsson, Tomas, Nielsen, Kaspar Rene, Haraldsson, Asgeir, Bruun, Mie Topholm, Hansen, Thomas Folkmann, Steingrimsdottir, Thora, Jacobsen, Rikke Louise, Lie, Rolv T., Djurovic, Srdjan, Alfredsson, Lars, Lopez de Lapuente Portilla, Aitzkoa, Brunak, Soren, Melsted, Pall, Halldorsson, Bjarni V., Saemundsdottir, Jona, Magnusson, Olafur Th., Padyukov, Leonid, Banasik, Karina, Rafnar, Thorunn, Askling, Johan, Klareskog, Lars, Pedersen, Ole Birger, Masson, Gisli, Havdahl, Alexandra, Nilsson, Bjorn, Andreassen, Ole A., Daly, Mark, Ostrowski, Sisse Rye, Jonsdottir, Ingileif, Stefansson, Hreinn, Holm, Hilma, Helgason, Agnar, Thorsteinsdottir, Unnur, Stefansson, Kari, and Gudbjartsson, Daniel F.

Published
2023
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11. Complex effects of sequence variants on lipid levels and coronary artery disease

Author

Snaebjarnarson, Audunn S., Helgadottir, Anna, Arnadottir, Gudny A., Ivarsdottir, Erna V., Thorleifsson, Gudmar, Ferkingstad, Egil, Einarsson, Gudmundur, Sveinbjornsson, Gardar, Thorgeirsson, Thorgeir E., Ulfarsson, Magnus O., Halldorsson, Bjarni V., Olafsson, Isleifur, Erikstrup, Christian, Pedersen, Ole B., Nyegaard, Mette, Bruun, Mie T., Ullum, Henrik, Brunak, Søren, Iversen, Kasper Karmark, Christensen, Alex Hoerby, Olesen, Morten S., Ghouse, Jonas, Banasik, Karina, Knowlton, Kirk U., Arnar, David O., Thorgeirsson, Gudmundur, Nadauld, Lincoln, Ostrowski, Sisse Rye, Bundgaard, Henning, Holm, Hilma, Sulem, Patrick, Stefansson, Kari, and Gudbjartsson, Daniel F.

Published
2023
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12. The sequences of 150,119 genomes in the UK Biobank

Author

Halldorsson, Bjarni V., Eggertsson, Hannes P., Moore, Kristjan H. S., Hauswedell, Hannes, Eiriksson, Ogmundur, Ulfarsson, Magnus O., Palsson, Gunnar, Hardarson, Marteinn T., Oddsson, Asmundur, Jensson, Brynjar O., Kristmundsdottir, Snaedis, Sigurpalsdottir, Brynja D., Stefansson, Olafur A., Beyter, Doruk, Holley, Guillaume, Tragante, Vinicius, Gylfason, Arnaldur, Olason, Pall I., Zink, Florian, Asgeirsdottir, Margret, Sverrisson, Sverrir T., Sigurdsson, Brynjar, Gudjonsson, Sigurjon A., Sigurdsson, Gunnar T., Halldorsson, Gisli H., Sveinbjornsson, Gardar, Norland, Kristjan, Styrkarsdottir, Unnur, Magnusdottir, Droplaug N., Snorradottir, Steinunn, Kristinsson, Kari, Sobech, Emilia, Jonsson, Helgi, Geirsson, Arni J., Olafsson, Isleifur, Jonsson, Palmi, Pedersen, Ole Birger, Erikstrup, Christian, Brunak, Søren, Ostrowski, Sisse Rye, Thorleifsson, Gudmar, Jonsson, Frosti, Melsted, Pall, Jonsdottir, Ingileif, Rafnar, Thorunn, Holm, Hilma, Stefansson, Hreinn, Saemundsdottir, Jona, Gudbjartsson, Daniel F., Magnusson, Olafur T., Masson, Gisli, Thorsteinsdottir, Unnur, Helgason, Agnar, Jonsson, Hakon, Sulem, Patrick, and Stefansson, Kari

Published
2022
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13. HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2

Author

Olafsdottir, Thorunn A., Bjarnadottir, Kristbjorg, Norddahl, Gudmundur L., Halldorsson, Gisli H., Melsted, Pall, Gunnarsdottir, Kristbjorg, Ivarsdottir, Erna, Olafsdottir, Thorhildur, Arnthorsson, Asgeir O., Theodors, Fannar, Eythorsson, Elias, Helgason, Dadi, Eggertsson, Hannes P., Masson, Gisli, Bjarnadottir, Sólveig, Saevarsdottir, Saedis, Runolfsdottir, Hrafnhildur L., Olafsson, Isleifur, Saemundsdottir, Jona, Sigurdsson, Martin I., Ingvarsson, Ragnar F., Palsson, Runolfur, Thorgeirsson, Gudmundur, Halldorsson, Bjarni V., Holm, Hilma, Kristjansson, Mar, Sulem, Patrick, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., and Stefansson, Kari

Published
2022
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14. Max Point-Tolerance Graphs

Author

Catanzaro, Daniele, Chaplick, Steven, Felsner, Stefan, Halldórsson, Bjarni V., Halldórsson, Magnús M., Hixon, Thomas, and Stacho, Juraj

Subjects
Computer Science - Discrete Mathematics, Mathematics - Combinatorics
Abstract

A graph $G$ is a \emph{max point-tolerance (MPT)} graph if each vertex $v$ of $G$ can be mapped to a \emph{pointed-interval} $(I_v, p_v)$ where $I_v$ is an interval of $\mathbb{R}$ and $p_v \in I_v$ such that $uv$ is an edge of $G$ iff $I_u \cap I_v \supseteq \{p_u, p_v\}$. MPT graphs model relationships among DNA fragments in genome-wide association studies as well as basic transmission problems in telecommunications. We formally introduce this graph class, characterize it, study combinatorial optimization problems on it, and relate it to several well known graph classes. We characterize MPT graphs as a special case of several 2D geometric intersection graphs; namely, triangle, rectangle, L-shape, and line segment intersection graphs. We further characterize MPT as having certain linear orders on their vertex set. Our last characterization is that MPT graphs are precisely obtained by intersecting special pairs of interval graphs. We also show that, on MPT graphs, the maximum weight independent set problem can be solved in polynomial time, the coloring problem is NP-complete, and the clique cover problem has a 2-approximation. Finally, we demonstrate several connections to known graph classes; e.g., MPT graphs strictly contain interval graphs and outerplanar graphs, but are incomparable to permutation, chordal, and planar graphs., Comment: Accepted to the Journal of Discrete Applied Mathematics

Published
2015
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15. PopIns: population-scale detection of novel sequence insertions

Author

Kehr, Birte, Melsted, Páll, and Halldórsson, Bjarni V.

Subjects
Quantitative Biology - Genomics
Abstract

The detection of genomic structural variation (SV) has advanced tremendously in recent years due to progress in high-throughput sequencing technologies. Novel sequence insertions, insertions without similarity to a human reference genome, have received less attention than other types of SVs due to the computational challenges in their detection from short read sequencing data, which inherently involves de novo assembly. De novo assembly is not only computationally challenging, but also requires high-quality data. While the reads from a single individual may not always meet this requirement, using reads from multiple individuals can increase power to detect novel insertions. We have developed the program PopIns, which can discover and characterize non-reference insertions of 100 bp or longer on a population scale. In this paper, we describe the approach we implemented in PopIns. It takes as input a reads-to-reference alignment, assembles unaligned reads using a standard assembly tool, merges the contigs of different individuals into high-confidence sequences, anchors the merged sequences into the reference genome, and finally genotypes all individuals for the discovered insertions. Our tests on simulated data indicate that the merging step greatly improves the quality and reliability of predicted insertions and that PopIns shows significantly better recall and precision than the recent tool MindTheGap. Preliminary results on a data set of 305 Icelanders demonstrate the practicality of the new approach. The source code of PopIns is available from http://github.com/bkehr/popins., Comment: Presented at RECOMB-SEQ 2015

Published
2015

16. Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming

Author

Gisladottir, Rosa S., Ivarsdottir, Erna V., Helgason, Agnar, Jonsson, Lina, Hannesdottir, Nanna K., Rutsdottir, Gudrun, Arnadottir, Gudny A., Skuladottir, Astros, Jonsson, Benedikt A., Norddahl, Gudmundur L., Ulfarsson, Magnus O., Helgason, Hannes, Halldorsson, Bjarni V., Nawaz, Muhammad S., Tragante, Vinicius, Sveinbjornsson, Gardar, Thorgeirsson, Thorgeir, Oddsson, Asmundur, Kristjansson, Ragnar P., Bjornsdottir, Gyda, Thorgeirsson, Gudmundur, Jonsdottir, Ingileif, Holm, Hilma, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Stefansson, Hreinn, Sulem, Patrick, and Stefansson, Kari

Published
2020
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17. Variants at the Interleukin 1 Gene Locus and Pericarditis

Author

Thorolfsdottir, Rosa B., Jonsdottir, Andrea B., Sveinbjornsson, Gardar, Aegisdottir, Hildur M., Oddsson, Asmundur, Stefansson, Olafur A., Halldorsson, Gisli H., Saevarsdottir, Saedis, Thorleifsson, Gudmar, Stefansdottir, Lilja, Pedersen, Ole B., Sørensen, Erik, Ghouse, Jonas, Raja, Anna Axelsson, Zheng, Chaoqun, Silajdzija, Elvira, Rand, Søren Albertsen, Erikstrup, Christian, Ullum, Henrik, Mikkelsen, Christina, Banasik, Karina, Brunak, Søren, Ivarsdottir, Erna V., Sigurdsson, Asgeir, Beyter, Doruk, Sturluson, Arni, Einarsson, Hafsteinn, Tragante, Vinicius, Helgason, Hannes, Lund, Sigrun H., Halldorsson, Bjarni V., Sigurpalsdottir, Brynja D., Olafsson, Isleifur, Arnar, David O., Thorgeirsson, Gudmundur, Knowlton, Kirk U., Nadauld, Lincoln D., Gretarsdottir, Solveig, Helgadottir, Anna, Ostrowski, Sisse R., Gudbjartssson, Daniel F., Jonsdottir, Ingileif, Bundgaard, Henning, Holm, Hilma, Sulem, Patrick, Stefansson, Kari, Thorolfsdottir, Rosa B., Jonsdottir, Andrea B., Sveinbjornsson, Gardar, Aegisdottir, Hildur M., Oddsson, Asmundur, Stefansson, Olafur A., Halldorsson, Gisli H., Saevarsdottir, Saedis, Thorleifsson, Gudmar, Stefansdottir, Lilja, Pedersen, Ole B., Sørensen, Erik, Ghouse, Jonas, Raja, Anna Axelsson, Zheng, Chaoqun, Silajdzija, Elvira, Rand, Søren Albertsen, Erikstrup, Christian, Ullum, Henrik, Mikkelsen, Christina, Banasik, Karina, Brunak, Søren, Ivarsdottir, Erna V., Sigurdsson, Asgeir, Beyter, Doruk, Sturluson, Arni, Einarsson, Hafsteinn, Tragante, Vinicius, Helgason, Hannes, Lund, Sigrun H., Halldorsson, Bjarni V., Sigurpalsdottir, Brynja D., Olafsson, Isleifur, Arnar, David O., Thorgeirsson, Gudmundur, Knowlton, Kirk U., Nadauld, Lincoln D., Gretarsdottir, Solveig, Helgadottir, Anna, Ostrowski, Sisse R., Gudbjartssson, Daniel F., Jonsdottir, Ingileif, Bundgaard, Henning, Holm, Hilma, Sulem, Patrick, and Stefansson, Kari

Abstract

Importance: Recurrent pericarditis is a treatment challenge and often a debilitating condition. Drugs inhibiting interleukin 1 cytokines are a promising new treatment option, but their use is based on scarce biological evidence and clinical trials of modest sizes, and the contributions of innate and adaptive immune processes to the pathophysiology are incompletely understood. Objective: To use human genomics, transcriptomics, and proteomics to shed light on the pathogenesis of pericarditis. Design, Setting, and Participants: This was a meta-analysis of genome-wide association studies of pericarditis from 5 countries. Associations were examined between the pericarditis-associated variants and pericarditis subtypes (including recurrent pericarditis) and secondary phenotypes. To explore mechanisms, associations with messenger RNA expression (cis-eQTL), plasma protein levels (pQTL), and CpG methylation of DNA (ASM-QTL) were assessed. Data from Iceland (deCODE genetics, 1983-2020), Denmark (Copenhagen Hospital Biobank/Danish Blood Donor Study, 1977-2022), the UK (UK Biobank, 1953-2021), the US (Intermountain, 1996-2022), and Finland (FinnGen, 1970-2022) were included. Data were analyzed from September 2022 to August 2023. Exposure: Genotype. Main Outcomes and Measures: Pericarditis. Results: In this genome-wide association study of 4894 individuals with pericarditis (mean [SD] age at diagnosis, 51.4 [17.9] years, 2734 [67.6%] male, excluding the FinnGen cohort), associations were identified with 2 independent common intergenic variants at the interleukin 1 locus on chromosome 2q14. The lead variant was rs12992780 (T) (effect allele frequency [EAF], 31%-40%; odds ratio [OR], 0.83; 95% CI, 0.79-0.87; P = 6.67 × 10-16), downstream of IL1B and the secondary variant rs7575402 (A or T) (EAF, 45%-55%; adjusted OR, 0.89; 95% CI, 0.85-0.93; adjusted P = 9.6 × 10-8). The lead variant rs12992780 had a smaller odds ratio for recurrent pericarditis (0.76) tha

Published
2024

19. A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy

Author

Skuladottir, Astros Th., Bjornsdottir, Gyda, Thorleifsson, Gudmar, Walters, G. Bragi, Nawaz, Muhammad Sulaman, Moore, Kristjan Helgi Swerford, Olason, Pall I., Thorgeirsson, Thorgeir E., Sigurpalsdottir, Brynja, Sveinbjornsson, Gardar, Eggertsson, Hannes P., Magnusson, Sigurdur H., Oddsson, Asmundur, Bjornsdottir, Anna, Vikingsson, Arnor, Sveinsson, Olafur A., Hrafnsdottir, Maria G., Sigurdardottir, Gudrun R., Halldorsson, Bjarni V., Hansen, Thomas Folkmann, Paarup, Helene, Erikstrup, Christian, Nielsen, Kaspar, Klokker, Mads, Bruun, Mie Topholm, Sorensen, Erik, Banasik, Karina, Burgdorf, Kristoffer S., Pedersen, Ole Birger, Ullum, Henrik, Jonsdottir, Ingileif, Stefansson, Hreinn, and Stefansson, Kari

Published
2021
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20. The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis

Author

Ivarsdottir, Erna V., Holm, Hilma, Benonisdottir, Stefania, Olafsdottir, Thorhildur, Sveinbjornsson, Gardar, Thorleifsson, Gudmar, Eggertsson, Hannes P., Halldorsson, Gisli H., Hjorleifsson, Kristjan E., Melsted, Pall, Gylfason, Arnaldur, Arnadottir, Gudny A., Oddsson, Asmundur, Jensson, Brynjar O., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Juliusdottir, Thorhildur, Stefansdottir, Lilja, Tragante, Vinicius, Halldorsson, Bjarni V., Petersen, Hannes, Thorgeirsson, Gudmundur, Thorsteinsdottir, Unnur, Sulem, Patrick, Hinriksdottir, Ingibjorg, Jonsdottir, Ingileif, Gudbjartsson, Daniel F., and Stefansson, Kari

Published
2021
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21. Crucial words for abelian powers

Author

Glen, Amy, Halldórsson, Bjarni V., and Kitaev, Sergey

Subjects
Mathematics - Combinatorics, 05D99, 68R05, 68R15
Abstract

A word is "crucial" with respect to a given set of "prohibited words" (or simply "prohibitions") if it avoids the prohibitions but it cannot be extended to the right by any letter of its alphabet without creating a prohibition. A "minimal crucial word" is a crucial word of the shortest length. A word W contains an "abelian k-th power" if W has a factor of the form X_1X_2...X_k where X_i is a permutation of X_1 for 2<= i <= k. When k=2 or 3, one deals with "abelian squares" and "abelian cubes", respectively. In 2004 (arXiv:math/0205217), Evdokimov and Kitaev showed that a minimal crucial word over an n-letter alphabet A_n = {1,2,..., n} avoiding abelian squares has length 4n-7 for n >= 3. In this paper we show that a minimal crucial word over A_n avoiding abelian cubes has length 9n-13 for n >= 5, and it has length 2, 5, 11, and 20 for n=1, 2, 3, and 4, respectively. Moreover, for n >= 4 and k >= 2, we give a construction of length k^2(n-1)-k-1 of a crucial word over A_n avoiding abelian k-th powers. This construction gives the minimal length for k=2 and k=3. For k >= 4 and n >= 5, we provide a lower bound for the length of crucial words over A_n avoiding abelian k-th powers., Comment: 14 pages

Published
2008
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23. Whole-Genome Shotgun Assembly and Comparison of Human Genome Assemblies

Author

Istrail, Sorin, Sutton, Granger G., Florea, Liliana, Halpern, Aaron L., Mobarry, Clark M., Lippert, Ross, Walenz, Brian, Shatkay, Hagit, Dew, Ian, Miller, Jason R., Flanigan, Michael J., Edwards, Nathan J., Bolanos, Randall, Fasulo, Daniel, Halldorsson, Bjarni V., Hannenhalli, Sridhar, Turner, Russell, Yooseph, Shibu, Lu, Fu, Nusskern, Deborah R., Shue, Bixiong Chris, Zheng, Xiangqun Holly, Zhong, Fei, Delcher, Arthur L., Huson, Daniel H., Kravitz, Saul A., Mouchard, Laurent, Reinert, Knut, Remington, Karin A., Clark, Andrew G., Waterman, Michael S., Eichler, Evan E., Adams, Mark D., Hunkapiller, Michael W., Myers, Eugene W., and Venter, J. Craig

Published
2004

24. Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

Author

Olafsdottir, Thorhildur, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Olafur A., Medek, Helga, Olafsson, Karl, Ingthorsson, Orri, Gudmundsson, Valur, Jonsdottir, Ingileif, Halldorsson, Gisli H., Kristjansson, Ragnar P., Frigge, Michael L., Stefansdottir, Lilja, Sigurdsson, Jon K., Oddsson, Asmundur, Sigurdsson, Asgeir, Eggertsson, Hannes P., Melsted, Pall, Halldorsson, Bjarni V., Lund, Sigrun H., Styrkarsdottir, Unnur, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Holm, Hilma, Tragante, Vinicius, Asselbergs, Folkert W., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Jonsdottir, Kristin, Rafnar, Thorunn, and Stefansson, Kari

Published
2020
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26. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

Author

Olafsdottir, Thorunn A., Theodors, Fannar, Bjarnadottir, Kristbjorg, Bjornsdottir, Unnur Steina, Agustsdottir, Arna B., Stefansson, Olafur A., Ivarsdottir, Erna V., Sigurdsson, Jon K., Benonisdottir, Stefania, Eyjolfsson, Gudmundur I., Gislason, David, Gislason, Thorarinn, Guðmundsdóttir, Steinunn, Gylfason, Arnaldur, Halldorsson, Bjarni V., Halldorsson, Gisli H., Juliusdottir, Thorhildur, Kristinsdottir, Anna M., Ludviksdottir, Dora, Ludviksson, Bjorn R., Masson, Gisli, Norland, Kristjan, Onundarson, Pall T., Olafsson, Isleifur, Sigurdardottir, Olof, Stefansdottir, Lilja, Sveinbjornsson, Gardar, Tragante, Vinicius, Gudbjartsson, Daniel F., Thorleifsson, Gudmar, Sulem, Patrick, Thorsteinsdottir, Unnur, Norddahl, Gudmundur L., Jonsdottir, Ingileif, and Stefansson, Kari

Published
2020
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28. Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Author

Bjornsdottir, Gyda, Chalmer, Mona A., Stefansdottir, Lilja, Skuladottir, Astros Th, Einarsson, Gudmundur, Andresdottir, Margret, Beyter, Doruk, Ferkingstad, Egil, Gretarsdottir, Solveig, Halldorsson, Bjarni V., Halldorsson, Gisli H., Helgadottir, Anna, Helgason, Hannes, Hjorleifsson Eldjarn, Grimur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Jonsdottir, Ingileif, Knowlton, Kirk U., Nadauld, Lincoln D., Lund, Sigrun H., Magnusson, Olafur Th, Melsted, Pall, Moore, Kristjan H.S., Oddsson, Asmundur, Olason, Pall I., Sigurdsson, Asgeir, Banasik, Karina, Brunak, Søren, Didriksen, Maria, Kogelman, Lisette J.A., Nielsen, Kaspar R., Sørensen, Erik, Pedersen, Ole B., Ullum, Henrik, Bay, Jakob, Burgdorf, Kristoffer, Dowsett, Joseph, Hjalgrim, Henrik, Jacobsen, Rikke L., Louloudis, Ioannis, Lundgaard, Agnete, Mikkelsen, Christina, Nyegaard, Mette, Henriksen, Alexander P., Werge, Thomas, Westergaard, David, Olesen, Jes, Ostrowski, Sisse R., Hansen, Thomas F., Bjornsdottir, Gyda, Chalmer, Mona A., Stefansdottir, Lilja, Skuladottir, Astros Th, Einarsson, Gudmundur, Andresdottir, Margret, Beyter, Doruk, Ferkingstad, Egil, Gretarsdottir, Solveig, Halldorsson, Bjarni V., Halldorsson, Gisli H., Helgadottir, Anna, Helgason, Hannes, Hjorleifsson Eldjarn, Grimur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Jonsdottir, Ingileif, Knowlton, Kirk U., Nadauld, Lincoln D., Lund, Sigrun H., Magnusson, Olafur Th, Melsted, Pall, Moore, Kristjan H.S., Oddsson, Asmundur, Olason, Pall I., Sigurdsson, Asgeir, Banasik, Karina, Brunak, Søren, Didriksen, Maria, Kogelman, Lisette J.A., Nielsen, Kaspar R., Sørensen, Erik, Pedersen, Ole B., Ullum, Henrik, Bay, Jakob, Burgdorf, Kristoffer, Dowsett, Joseph, Hjalgrim, Henrik, Jacobsen, Rikke L., Louloudis, Ioannis, Lundgaard, Agnete, Mikkelsen, Christina, Nyegaard, Mette, Henriksen, Alexander P., Werge, Thomas, Westergaard, David, Olesen, Jes, Ostrowski, Sisse R., and Hansen, Thomas F.

Abstract

Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis-regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes.

Published
2023

30. Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

Author

Rafnar, Thorunn, Gunnarsson, Bjarni, Stefansson, Olafur A., Sulem, Patrick, Ingason, Andres, Frigge, Michael L., Stefansdottir, Lilja, Sigurdsson, Jon K., Tragante, Vinicius, Steinthorsdottir, Valgerdur, Styrkarsdottir, Unnur, Stacey, Simon N., Gudmundsson, Julius, Arnadottir, Gudny A., Oddsson, Asmundur, Zink, Florian, Halldorsson, Gisli, Sveinbjornsson, Gardar, Kristjansson, Ragnar P., Davidsson, Olafur B., Salvarsdottir, Anna, Thoroddsen, Asgeir, Helgadottir, Elisabet A., Kristjansdottir, Katrin, Ingthorsson, Orri, Gudmundsson, Valur, Geirsson, Reynir T., Arnadottir, Ragnheidur, Gudbjartsson, Daniel F., Masson, Gisli, Asselbergs, Folkert W., Jonasson, Jon G., Olafsson, Karl, Thorsteinsdottir, Unnur, Halldorsson, Bjarni V., Thorleifsson, Gudmar, and Stefansson, Kari

Published
2018
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31. Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation

Author

Thorolfsdottir, Rosa B., Sveinbjornsson, Gardar, Sulem, Patrick, Nielsen, Jonas B., Jonsson, Stefan, Halldorsson, Gisli H., Melsted, Pall, Ivarsdottir, Erna V., Davidsson, Olafur B., Kristjansson, Ragnar P., Thorleifsson, Gudmar, Helgadottir, Anna, Gretarsdottir, Solveig, Norddahl, Gudmundur, Rajamani, Sridharan, Torfason, Bjarni, Valgardsson, Atli S., Sverrisson, Jon T., Tragante, Vinicius, Holmen, Oddgeir L., Asselbergs, Folkert W., Roden, Dan M., Darbar, Dawood, Pedersen, Terje R., Sabatine, Marc S., Willer, Cristen J., Løchen, Maja-Lisa, Halldorsson, Bjarni V., Jonsdottir, Ingileif, Hveem, Kristian, Arnar, David O., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Holm, Hilma, and Stefansson, Kari

Published
2018
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32. Parental influence on human germline de novo mutations in 1,548 trios from Iceland

Author

Jónsson, Hákon, Sulem, Patrick, Kehr, Birte, Kristmundsdottir, Snaedis, Zink, Florian, Hjartarson, Eirikur, Hardarson, Marteinn T., Hjorleifsson, Kristjan E., Eggertsson, Hannes P., Gudjonsson, Sigurjon Axel, Ward, Lucas D., Arnadottir, Gudny A., Helgason, Einar A., Helgason, Hannes, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Rafnar, Thorunn, Frigge, Mike, Stacey, Simon N., Th. Magnusson, Olafur, Thorsteinsdottir, Unnur, Masson, Gisli, Kong, Augustine, Halldorsson, Bjarni V., Helgason, Agnar, Gudbjartsson, Daniel F., and Stefansson, Kari

Published
2017
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35. Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies

Author

Kung, Annie W.C., Cherny, Stacey, Li, Gloria H.Y., Yi Gao, Tso, Gloria, Kam S. Lau, Su-Mei Xiao, Bin Cui, Luk, Keith D.K., Jian-min Liu, Zhen-lin Zhang, Min-Jia Zhang;, Jin-wei He, Hua Yue, Wia-bo Xia, Kiel, Douglas P., Karasik, David, Yi-Hsiang Hsu, Cupples, L. Adrienne, Lian-mei Luo, Shu-li He, Demissie, Serkalem, Thorsteinsdottir, Unnur, Stefansson, Kari, Richards, J. Brent, Halldorsson, Bjarni V., Sigurdsson, Gunnar, Styrkarsdottir, Unnur, Guangju Zhai, Soranzo, Nicole, Valdes, Ana, Spector, Tim D., and Sham, Pak C.

Subjects
Genetic variation -- Research, Fractures -- Genetic aspects, Fractures -- Risk factors, Bones -- Density, Bones -- Research, Biological sciences
Abstract

A genome-wide association study and follow-up replication studies to identify genetic variants that influence bone mineral density (BMD) in different ethnic groups reveal that rs2273061 of the Jagged1 (JAG1) gene is associated with high BMD and osteoporotic fractures. The results reveal that the JAG1 gene is involved in BMD regulation in different ethnic groups, and is also a possible important factor in fracture pathogenesis.

Published
2010

37. A meta-analysis uncovers the first sequence variant conferring risk of Bell’s palsy

Author

Skuladottir, Astros Th, Bjornsdottir, Gyda, Thorleifsson, Gudmar, Walters, G. Bragi, Nawaz, Muhammad Sulaman, Moore, Kristjan Helgi Swerford, Olason, Pall I., Thorgeirsson, Thorgeir E., Sigurpalsdottir, Brynja, Sveinbjornsson, Gardar, Eggertsson, Hannes P., Magnusson, Sigurdur H., Oddsson, Asmundur, Bjornsdottir, Anna, Vikingsson, Arnor, Sveinsson, Olafur A., Hrafnsdottir, Maria G., Sigurdardottir, Gudrun R., Halldorsson, Bjarni V., Hansen, Thomas Folkmann, Paarup, Helene, Erikstrup, Christian, Nielsen, Kaspar, Klokker, Mads, Bruun, Mie Topholm, Sørensen, Erik, Banasik, Karina, Burgdorf, Kristoffer S., Pedersen, Ole Birger, Ullum, Henrik, Jonsdottir, Ingileif, Stefansson, Hreinn, Stefansson, Kari, Skuladottir, Astros Th, Bjornsdottir, Gyda, Thorleifsson, Gudmar, Walters, G. Bragi, Nawaz, Muhammad Sulaman, Moore, Kristjan Helgi Swerford, Olason, Pall I., Thorgeirsson, Thorgeir E., Sigurpalsdottir, Brynja, Sveinbjornsson, Gardar, Eggertsson, Hannes P., Magnusson, Sigurdur H., Oddsson, Asmundur, Bjornsdottir, Anna, Vikingsson, Arnor, Sveinsson, Olafur A., Hrafnsdottir, Maria G., Sigurdardottir, Gudrun R., Halldorsson, Bjarni V., Hansen, Thomas Folkmann, Paarup, Helene, Erikstrup, Christian, Nielsen, Kaspar, Klokker, Mads, Bruun, Mie Topholm, Sørensen, Erik, Banasik, Karina, Burgdorf, Kristoffer S., Pedersen, Ole Birger, Ullum, Henrik, Jonsdottir, Ingileif, Stefansson, Hreinn, and Stefansson, Kari

Abstract

Bell’s palsy is the most common cause of unilateral facial paralysis and is defined as an idiopathic and acute inability to control movements of the facial muscles on the affected side. While the pathogenesis remains unknown, previous studies have implicated post-viral inflammation and resulting compression of the facial nerve. Reported heritability estimates of 4–14% suggest a genetic component in the etiology and an autosomal dominant inheritance has been proposed. Here, we report findings from a meta-analysis of genome-wide association studies uncovering the first unequivocal association with Bell’s palsy (rs9357446-A; P = 6.79 × 10−23, OR = 1.23; Ncases = 4714, Ncontrols = 1,011,520). The variant also confers risk of intervertebral disc disorders (P = 2.99 × 10−11, OR = 1.04) suggesting a common pathogenesis in part or a true pleiotropy.

Published
2021

38. Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk

Author

Olafsdottir, Thorhildur, primary, Stacey, Simon N., additional, Sveinbjornsson, Gardar, additional, Thorleifsson, Gudmar, additional, Norland, Kristjan, additional, Sigurgeirsson, Bardur, additional, Thorisdottir, Kristin, additional, Kristjansson, Arni Kjalar, additional, Tryggvadottir, Laufey, additional, Sarin, Kavita Y., additional, Benediktsson, Rafn, additional, Jonasson, Jon G., additional, Sigurdsson, Asgeir, additional, Jonasdottir, Aslaug, additional, Kristmundsdottir, Snaedis, additional, Jonsson, Hakon, additional, Gylfason, Arnaldur, additional, Oddsson, Asmundur, additional, Fridriksdottir, Run, additional, Gudjonsson, Sigurjon A., additional, Zink, Florian, additional, Lund, Sigrun H., additional, Rognvaldsson, Solvi, additional, Melsted, Pall, additional, Steinthorsdottir, Valgerdur, additional, Gudmundsson, Julius, additional, Mikaelsdottir, Evgenia, additional, Olason, Pall I., additional, Stefansdottir, Lilja, additional, Eggertsson, Hannes P., additional, Halldorsson, Bjarni V., additional, Thorsteinsdottir, Unnur, additional, Agustsson, Tomas T., additional, Olafsson, Karl, additional, Olafsson, Jon H., additional, Sulem, Patrick, additional, Rafnar, Thorunn, additional, Gudbjartsson, Daniel F., additional, and Stefansson, Kari, additional

Published
2021
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39. Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR

Author

Bjornsson, Eythor, primary, Gunnarsdottir, Kristbjorg, additional, Halldorsson, Gisli H., additional, Sigurdsson, Asgeir, additional, Arnadottir, Gudny A., additional, Jonsson, Hakon, additional, Olafsdottir, Eva F., additional, Niehus, Sebastian, additional, Kehr, Birte, additional, Sveinbjörnsson, Gardar, additional, Gudmundsdottir, Steinunn, additional, Helgadottir, Anna, additional, Andersen, Karl, additional, Thorleifsson, Gudmar, additional, Eyjolfsson, Gudmundur I., additional, Olafsson, Isleifur, additional, Sigurdardottir, Olof, additional, Saemundsdottir, Jona, additional, Jonsdottir, Ingileif, additional, Magnusson, Olafur Th., additional, Masson, Gisli, additional, Stefansson, Hreinn, additional, Gudbjartsson, Daniel F., additional, Thorgeirsson, Gudmundur, additional, Holm, Hilma, additional, Halldorsson, Bjarni V., additional, Melsted, Pall, additional, Norddahl, Gudmundur L., additional, Sulem, Patrick, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional

Published
2021
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41. A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22

Author

Kerkhof, Hanneke J. M., Lories, Rik J., Meulenbelt, Ingrid, Jonsdottir, Ingileif, Valdes, Ana M., Arp, Pascal, Ingvarsson, Thorvaldur, Jhamai, Mila, Jonsson, Helgi, Stolk, Lisette, Thorleifsson, Gudmar, Zhai, Guangju, Zhang, Feng, Zhu, Yanyan, van der Breggen, Ruud, Carr, Andrew, Doherty, Michael, Doherty, Sally, Felson, David T., Gonzalez, Antonio, Halldorsson, Bjarni V., Hart, Deborah J., Hauksson, Valdimar B., Hofman, Albert, Ioannidis, John P. A., Kloppenburg, Margreet, Lane, Nancy E., Loughlin, John, Luyten, Frank P., Nevitt, Michael C., Parimi, Neeta, Pols, Huibert A. P., Rivadeneira, Fernando, Slagboom, Eline P., Styrkársdóttir, Unnur, Tsezou, Aspasia, van de Putte, Tom, Zmuda, Joseph, Spector, Tim D., Stefansson, Kari, Uitterlinden, André G., and van Meurs, Joyce B. J.

Published
2010
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42. Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand

Author

Evangelou, Evangelos, Chapman, Kay, Meulenbelt, Ingrid, Karassa, Fotini B., Loughlin, John, Carr, Andrew, Doherty, Michael, Doherty, Sally, Gómez-Reino, Juan J., Gonzalez, Antonio, Halldorsson, Bjarni V., Hauksson, Valdimar B., Hofman, Albert, Hart, Deborah J., Ikegawa, Shiro, Ingvarsson, Thorvaldur, Jiang, Qing, Jonsdottir, Ingileif, Jonsson, Helgi, Kerkhof, Hanneke J. M., Kloppenburg, Margreet, Lane, Nancy E., Li, Jia, Lories, Rik J., van Meurs, Joyce B. J., Näkki, Annu, Nevitt, Michael C., Rodriguez-Lopez, Julio, Shi, Dongquan, Slagboom, Eline P., Stefansson, Kari, Tsezou, Aspasia, Wallis, Gillian A., Watson, Christopher M., Spector, Tim D., Uitterlinden, Andre G., Valdes, Ana M., and Ioannidis, John P. A.

Published
2009
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43. Large recurrent microdeletions associated with schizophrenia

Author

Stefansson, Hreinn, Rujescu, Dan, Cichon, Sven, Pietiläinen, Olli P. H., Ingason, Andres, Steinberg, Stacy, Fossdal, Ragnheidur, Sigurdsson, Engilbert, Sigmundsson, Thordur, Buizer-Voskamp, Jacobine E., Hansen, Thomas, Jakobsen, Klaus D., Muglia, Pierandrea, Francks, Clyde, Matthews, Paul M., Gylfason, Arnaldur, Halldorsson, Bjarni V., Gudbjartsson, Daniel, Thorgeirsson, Thorgeir E., Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Bjornsson, Asgeir, Mattiasdottir, Sigurborg, Blondal, Thorarinn, Haraldsson, Magnus, Magnusdottir, Brynja B., Giegling, Ina, Möller, Hans-Jürgen, Hartmann, Annette, Shianna, Kevin V., Ge, Dongliang, Need, Anna C., Crombie, Caroline, Fraser, Gillian, Walker, Nicholas, Lonnqvist, Jouko, Suvisaari, Jaana, Tuulio-Henriksson, Annamarie, Paunio, Tiina, Toulopoulou, Timi, Bramon, Elvira, Forti, Marta Di, Murray, Robin, Ruggeri, Mirella, Vassos, Evangelos, Tosato, Sarah, Walshe, Muriel, Li, Tao, Vasilescu, Catalina, Mühleisen, Thomas W., Wang, August G., Ullum, Henrik, Djurovic, Srdjan, Melle, Ingrid, Olesen, Jes, Kiemeney, Lambertus A., Franke, Barbara, Sabatti, Chiara, Freimer, Nelson B., Gulcher, Jeffrey R., Thorsteinsdottir, Unnur, Kong, Augustine, Andreassen, Ole A., Ophoff, Roel A., Georgi, Alexander, Rietschel, Marcella, Werge, Thomas, Petursson, Hannes, Goldstein, David B., Nöthen, Markus M., Peltonen, Leena, Collier, David A., St Clair, David, Stefansson, Kari, Kahn, René S., Linszen, Don H., van Os, Jim, Wiersma, Durk, Bruggeman, Richard, Cahn, Wiepke, de Haan, Lieuwe, Krabbendam, Lydia, and Myin-Germeys, Inez

Published
2008
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44. Long read sequencing of 1,817 Icelanders provides insight into the role of structural variants in human disease

Author

Beyter, Doruk, Ingimundardottir, Helga, Eggertsson, Hannes P., Bjornsson, Eythor, Kristmundsdottir, Snaedis, Mehringer, Svenja, Jonsson, Hakon, Hardarson, Marteinn T., Magnusdottir, Droplaug N., Kristjansson, Ragnar P., Gudjonsson, Sigurjon A., Sverrisson, Sverrir T., Holley, Guillaume, Eyjolfsson, Gudmundur, Olafsson, Isleifur, Sigurdardottir, Olof, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, Magnusson, Olafur T., Halldorsson, Bjarni V., and Stefansson, Kari

Abstract

Long-read sequencing (LRS) promises to improve characterization of structural variants (SVs), a major source of genetic diversity. We generated LRS data on 1,817 Icelanders using Oxford Nanopore Technologies, and identified a median of 23,111 autosomal structural variants per individual (a median of 11,506 insertions and 11,576 deletions), spanning cumulatively a median of 9.9 Mb. We found that rare SVs are larger in size than common ones and are more likely to impact protein function. We discovered an association with a rare deletion of the first exon of PCSK9 . Carriers of this deletion have 0.93 mmol/L (1.36 sd) lower LDL cholesterol levels than the population average (p-value = 2.4·10 −22 ). We show that SVs can be accurately characterized at population scale using long read sequence data in a genomewide non-targeted fashion and how these variants impact disease.

Published
2019
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45. Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

Author

Onderzoek Precision medicine, Circulatory Health, Team Medisch, Olafsdottir, Thorhildur, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Olafur A, Medek, Helga, Olafsson, Karl, Ingthorsson, Orri, Gudmundsson, Valur, Jonsdottir, Ingileif, Halldorsson, Gisli H, Kristjansson, Ragnar P, Frigge, Michael L, Stefansdottir, Lilja, Sigurdsson, Jon K, Oddsson, Asmundur, Sigurdsson, Asgeir, Eggertsson, Hannes P, Melsted, Pall, Halldorsson, Bjarni V, Lund, Sigrun H, Styrkarsdottir, Unnur, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Holm, Hilma, Tragante, Vinicius, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Jonsdottir, Kristin, Rafnar, Thorunn, Stefansson, Kari, Onderzoek Precision medicine, Circulatory Health, Team Medisch, Olafsdottir, Thorhildur, Thorleifsson, Gudmar, Sulem, Patrick, Stefansson, Olafur A, Medek, Helga, Olafsson, Karl, Ingthorsson, Orri, Gudmundsson, Valur, Jonsdottir, Ingileif, Halldorsson, Gisli H, Kristjansson, Ragnar P, Frigge, Michael L, Stefansdottir, Lilja, Sigurdsson, Jon K, Oddsson, Asmundur, Sigurdsson, Asgeir, Eggertsson, Hannes P, Melsted, Pall, Halldorsson, Bjarni V, Lund, Sigrun H, Styrkarsdottir, Unnur, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Holm, Hilma, Tragante, Vinicius, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Jonsdottir, Kristin, Rafnar, Thorunn, and Stefansson, Kari

Published
2020

46. The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern

Author

De La Vega, Francisco M., Issac, Hadar, Collins, Andrew, Wogan, Lewis T., Ziegle, Janet S., Koehler, Ryan T., Laig-Webster, Marion, Yu Wang, Lippert, Ross A., Xiaoping Su, Halldorsson, Bjarni V., Scafe, Charles R., Stevens, Junko F., de The, Guy, Yi Zheng, Itakura, Mitsuo, Kalush, Francis, Hemken, Heinz G., Lily H. Xu, Xiaoqing You, Guegler, Karl J., Olson, Sheri J., Leinen, Kyle M., O'Brien, Stephen J., Spier, Eugene G., Hunkapiller, Michael W., Istrail, Sorin, and Clark, Andrew G.

Subjects
Linkage (Genetics) -- Research, Single nucleotide polymorphisms -- Research, Human chromosomes -- Research, Health
Abstract

A comparison of the patterns of linkage disequilibrium (LD) across four major human populations with a high-resolution single-nucleotide polymorphism (SNP) map covering almost the entire length of chromosomes 6, 21, and 22 is presented. Results are considered to have practical implications for the rational design and selection of SNPs for disease association studies.

Published
2005

48. Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes

Author

Gudbjartsson, Daniel F., primary, Thorgeirsson, Gudmundur, additional, Sulem, Patrick, additional, Helgadottir, Anna, additional, Gylfason, Arnaldur, additional, Saemundsdottir, Jona, additional, Bjornsson, Eythor, additional, Norddahl, Gudmundur L., additional, Jonasdottir, Aslaug, additional, Jonasdottir, Adalbjorg, additional, Eggertsson, Hannes P., additional, Gretarsdottir, Solveig, additional, Thorleifsson, Gudmar, additional, Indridason, Olafur S., additional, Palsson, Runolfur, additional, Jonasson, Fridbert, additional, Jonsdottir, Ingileif, additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Danielsen, Ragnar, additional, Matthiasson, Stefan E., additional, Kristmundsdottir, Snaedis, additional, Halldorsson, Bjarni V., additional, Hreidarsson, Astradur B., additional, Valdimarsson, Einar M., additional, Gudnason, Thorarinn, additional, Benediktsson, Rafn, additional, Steinthorsdottir, Valgerdur, additional, Thorsteinsdottir, Unnur, additional, Holm, Hilma, additional, and Stefansson, Kari, additional

Published
2019
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49. Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

Author

Linner, Richard Karlsson, Biroli, Pietro, Kong, Edward, Meddens, Fleur W., Wedow, Robbee, Fontana, Mark Alan, Lebreton, Mael, Tino, Stephen P., Abdellaoui, Abdel, Hammerschlag, Anke R., Nivard, Michel G., Okbay, Aysu, Rietveld, Cornelius A., Timshel, Pascal N., Trzaskowski, Maciej, de Vlaming, Ronald, Zund, Christian L., Bao, Yanchun, Buzdugan, Laura, Caplin, Ann H., Chen, Chia-Yen, Eibich, Peter, Fontanillas, Pierre, Gonzalez, Juan R., Joshi, Peter K., Karhunen, Ville, Kleinman, Aaron, Levin, Remy Z., Lill, Christina M., Meddens, Gerardus A., Muntane, Gerard, Sanchez-Roige, Sandra, van Rooij, Frank J., Taskesen, Erdogan, Wu, Yang, Zhang, Futao, Agee, Michelle, Alipanahi, Babak, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Furlotte, Nicholas A., Huber, Karen E., Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Agbessi, Mawusse, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Bonder, Marc Jan, Boomsma, Dorret I., Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tonu, Fave, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan, Hemani, Gibran, Jansen, Rick, Kahonen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johannes, Kim, Yungil, Kirsten, Holger, Kovacs, Peter, Krohn, Knut, Kronberg-Guzman, Jaanika, Kukushkina, Viktorija, Kutalik, Zoltan, Lee, Bernett, Lehtimaki, Terho, Loeffler, Markus, Marigorta, Urko M., Metspalu, Andres, Milani, Lili, Montgomery, Grant W., Mueller-Nurasyid, Martina, Nauck, Matthias, Penninx, Brenda, Perola, Markus, Pervjakova, Natalia, Pierce, Brandon, Powell, Joseph, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli, Ring, Susan, Ripatti, Samuli, Rotzchke, Olaf, Rueger, Sina, Saha, Ashis, Scholz, Markus, Schramm, Katharina, Seppala, Ilkka, Stumvoll, Michael, Sullivan, Patrick, Hoen, Peter-Bramt, Teumer, Alexander, Thiery, Joachim, Tong, Lin, Tonjes, Anke, van Dongen, Jenny, van Meurs, Joyce, Verlouw, Joost, Visscher, Peter M., Voelker, Uwe, Vosa, Urmo, Westra, Harm-Jan, Yaghootkar, Hanieh, Yang, Jian, Zeng, Biao, Lee, James J., Pers, Tune H., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Kong, Augustine, Lahti, Jari, van der Lee, Sven J., de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Peyrot, Wouter J., Qian, Yong, Rueedi, Rico, Salvi, Erika, Schmidt, Boerge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., St Pourcain, Beate, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bonnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldorsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Jugessur, Astanand, Kaakinen, Marika A., Kanoni, Stavroula, Keltigangas-Jarvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Latvala, Antti, Launer, Lenore J., Lebreton, Mael P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Magi, Reedik, Maki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, McMahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Raikkonen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, Venturini, Cristina, Vinkhuyzen, Anna A. E., Voelzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Borecki, Ingrid B., Bultmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Joergen, Gratten, Jacob, Gudnason, Vilmundur, van der Harst, Pim, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hypponen, Elina, Iacono, William G., Jacobsson, Bo, Jarvelin, Marjo-Riitta, Jockel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., McGue, Matt, Pendleton, Neil, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sorensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, Andre G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Laibson, David I., Medland, Sarah E., Johannesson, Magnus, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Auton, Adam, Boardman, Jason D., Clark, David W., Conlin, Andrew, Dolan, Conor C., Fischbacher, Urs, Groenen, Patrick J. F., Harris, Kathleen Mullan, Hasler, Gregor, Hofman, Albert, Ikram, Mohammad A., Jain, Sonia, Karlsson, Robert, Kessler, Ronald C., Kooyman, Maarten, MacKillop, James, Mannikko, Minna, Morcillo-Suarez, Carlos, McQueen, Matthew B., Schmidt, Klaus M., Smart, Melissa C., Sutter, Matthias, White, Jon, de Wit, Harriet, Fehr, Ernst, Kumari, Meena, Laibson, David, Meyer, Michelle N., Navarro, Arcadi, Palmer, Abraham A., Schunk, Daniel, Stein, Murray B., Svento, Rauli, Timmers, Paul R. H. J., Ursano, Robert J., Wagner, Gert G., Beauchamp, Jonathan P., Linner, Richard Karlsson, Biroli, Pietro, Kong, Edward, Meddens, Fleur W., Wedow, Robbee, Fontana, Mark Alan, Lebreton, Mael, Tino, Stephen P., Abdellaoui, Abdel, Hammerschlag, Anke R., Nivard, Michel G., Okbay, Aysu, Rietveld, Cornelius A., Timshel, Pascal N., Trzaskowski, Maciej, de Vlaming, Ronald, Zund, Christian L., Bao, Yanchun, Buzdugan, Laura, Caplin, Ann H., Chen, Chia-Yen, Eibich, Peter, Fontanillas, Pierre, Gonzalez, Juan R., Joshi, Peter K., Karhunen, Ville, Kleinman, Aaron, Levin, Remy Z., Lill, Christina M., Meddens, Gerardus A., Muntane, Gerard, Sanchez-Roige, Sandra, van Rooij, Frank J., Taskesen, Erdogan, Wu, Yang, Zhang, Futao, Agee, Michelle, Alipanahi, Babak, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Furlotte, Nicholas A., Huber, Karen E., Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V., Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y., Vacic, Vladimir, Wilson, Catherine H., Agbessi, Mawusse, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Bonder, Marc Jan, Boomsma, Dorret I., Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tonu, Fave, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan, Hemani, Gibran, Jansen, Rick, Kahonen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johannes, Kim, Yungil, Kirsten, Holger, Kovacs, Peter, Krohn, Knut, Kronberg-Guzman, Jaanika, Kukushkina, Viktorija, Kutalik, Zoltan, Lee, Bernett, Lehtimaki, Terho, Loeffler, Markus, Marigorta, Urko M., Metspalu, Andres, Milani, Lili, Montgomery, Grant W., Mueller-Nurasyid, Martina, Nauck, Matthias, Penninx, Brenda, Perola, Markus, Pervjakova, Natalia, Pierce, Brandon, Powell, Joseph, Prokisch, Holger, Psaty, Bruce M., Raitakari, Olli, Ring, Susan, Ripatti, Samuli, Rotzchke, Olaf, Rueger, Sina, Saha, Ashis, Scholz, Markus, Schramm, Katharina, Seppala, Ilkka, Stumvoll, Michael, Sullivan, Patrick, Hoen, Peter-Bramt, Teumer, Alexander, Thiery, Joachim, Tong, Lin, Tonjes, Anke, van Dongen, Jenny, van Meurs, Joyce, Verlouw, Joost, Visscher, Peter M., Voelker, Uwe, Vosa, Urmo, Westra, Harm-Jan, Yaghootkar, Hanieh, Yang, Jian, Zeng, Biao, Lee, James J., Pers, Tune H., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E., Hofer, Edith, Horikoshi, Momoko, Huffman, Jennifer E., Kaasik, Kadri, Kalafati, Ioanna P., Kong, Augustine, Lahti, Jari, van der Lee, Sven J., de Leeuw, Christiaan, Lind, Penelope A., Lindgren, Karl-Oskar, Liu, Tian, Mangino, Massimo, Marten, Jonathan, Mihailov, Evelin, Miller, Michael B., van der Most, Peter J., Oldmeadow, Christopher, Payton, Antony, Peyrot, Wouter J., Qian, Yong, Rueedi, Rico, Salvi, Erika, Schmidt, Boerge, Schraut, Katharina E., Shi, Jianxin, Smith, Albert V., Poot, Raymond A., St Pourcain, Beate, Thorleifsson, Gudmar, Verweij, Niek, Vuckovic, Dragana, Wellmann, Juergen, Yang, Jingyun, Zhao, Wei, Zhu, Zhihong, Alizadeh, Behrooz Z., Amin, Najaf, Bakshi, Andrew, Baumeister, Sebastian E., Biino, Ginevra, Bonnelykke, Klaus, Boyle, Patricia A., Campbell, Harry, Cappuccio, Francesco P., Davies, Gail, De Neve, Jan-Emmanuel, Deloukas, Panos, Demuth, Ilja, Ding, Jun, Eisele, Lewin, Eklund, Niina, Evans, David M., Faul, Jessica D., Feitosa, Mary F., Forstner, Andreas J., Gandin, Ilaria, Gunnarsson, Bjarni, Halldorsson, Bjarni V., Harris, Tamara B., Heath, Andrew C., Hocking, Lynne J., Holliday, Elizabeth G., Homuth, Georg, Horan, Michael A., Hottenga, Jouke-Jan, de Jager, Philip L., Jugessur, Astanand, Kaakinen, Marika A., Kanoni, Stavroula, Keltigangas-Jarvinen, Liisa, Kiemeney, Lambertus A. L. M., Kolcic, Ivana, Koskinen, Seppo, Kraja, Aldi T., Kroh, Martin, Latvala, Antti, Launer, Lenore J., Lebreton, Mael P., Levinson, Douglas F., Lichtenstein, Paul, Lichtner, Peter, Liewald, David C. M., Loukola, Anu, Madden, Pamela A., Magi, Reedik, Maki-Opas, Tomi, Marioni, Riccardo E., Marques-Vidal, Pedro, McMahon, George, Meisinger, Christa, Meitinger, Thomas, Milaneschi, Yusplitri, Myhre, Ronny, Nelson, Christopher P., Nyholt, Dale R., Ollier, William E. R., Palotie, Aarno, Paternoster, Lavinia, Pedersen, Nancy L., Petrovic, Katja E., Porteous, David J., Raikkonen, Katri, Ring, Susan M., Robino, Antonietta, Rostapshova, Olga, Rudan, Igor, Rustichini, Aldo, Salomaa, Veikko, Sanders, Alan R., Sarin, Antti-Pekka, Schmidt, Helena, Scott, Rodney J., Smith, Blair H., Smith, Jennifer A., Staessen, Jan A., Steinhagen-Thiessen, Elisabeth, Strauch, Konstantin, Terracciano, Antonio, Tobin, Martin D., Ulivi, Sheila, Vaccargiu, Simona, Quaye, Lydia, Venturini, Cristina, Vinkhuyzen, Anna A. E., Voelzke, Henry, Vonk, Judith M., Vozzi, Diego, Waage, Johannes, Ware, Erin B., Willemsen, Gonneke, Attia, John R., Bennett, David A., Berger, Klaus, Bertram, Lars, Bisgaard, Hans, Borecki, Ingrid B., Bultmann, Ute, Chabris, Christopher F., Cucca, Francesco, Cusi, Daniele, Deary, J., Dedoussis, George V., van Duijn, Cornelia M., Eriksson, Johan G., Franke, Barbara, Gasparini, Paolo, Gejman, Pablo V., Gieger, Christian, Grabe, Hans-Joergen, Gratten, Jacob, Gudnason, Vilmundur, van der Harst, Pim, Hayward, Caroline, Hinds, David A., Hoffmann, Wolfgang, Hypponen, Elina, Iacono, William G., Jacobsson, Bo, Jarvelin, Marjo-Riitta, Jockel, Karl-Heinz, Kaprio, Jaakko, Kardia, Sharon L. R., Lehrer, Steven F., Magnusson, Patrik K. E., Martin, Nicholas G., McGue, Matt, Pendleton, Neil, Pirastu, Nicola, Pirastu, Mario, Polasek, Ozren, Posthuma, Danielle, Power, Christine, Province, Michael A., Samani, Nilesh J., Schlessinger, David, Schmidt, Reinhold, Sorensen, Thorkild I. A., Spector, Tim D., Stefansson, Kari, Thorsteinsdottir, Unnur, Thurik, A. Roy, Timpson, Nicholas J., Tiemeier, Henning, Uitterlinden, Andre G., Vitart, Veronique, Vollenweider, Peter, Weir, David R., Wilson, James F., Wright, Alan F., Conley, Dalton C., Krueger, Robert F., Smith, George Davey, Laibson, David I., Medland, Sarah E., Johannesson, Magnus, Koellinger, Philipp D., Cesarini, David, Benjamin, Daniel J., Auton, Adam, Boardman, Jason D., Clark, David W., Conlin, Andrew, Dolan, Conor C., Fischbacher, Urs, Groenen, Patrick J. F., Harris, Kathleen Mullan, Hasler, Gregor, Hofman, Albert, Ikram, Mohammad A., Jain, Sonia, Karlsson, Robert, Kessler, Ronald C., Kooyman, Maarten, MacKillop, James, Mannikko, Minna, Morcillo-Suarez, Carlos, McQueen, Matthew B., Schmidt, Klaus M., Smart, Melissa C., Sutter, Matthias, White, Jon, de Wit, Harriet, Fehr, Ernst, Kumari, Meena, Laibson, David, Meyer, Michelle N., Navarro, Arcadi, Palmer, Abraham A., Schunk, Daniel, Stein, Murray B., Svento, Rauli, Timmers, Paul R. H. J., Ursano, Robert J., Wagner, Gert G., and Beauchamp, Jonathan P.

Abstract

Humans vary substantially in their willingness to take risks. In a combined sample of over 1 million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. Across all GWAS, we identified hundreds of associated loci, including 99 loci associated with general risk tolerance. We report evidence of substantial shared genetic influences across risk tolerance and the risky behaviors: 46 of the 99 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is genetically correlated (vertical bar(r) over cap (g)vertical bar similar to 0.25 to 0.50) with a range of risky behaviors. Bioinformatics analyses imply that genes near SNPs associated with general risk tolerance are highly expressed in brain tissues and point to a role for glutamatergic and GABAergic neurotransmission. We found no evidence of enrichment for genes previously hypothesized to relate to risk tolerance.

Published
2019

50. Sequence variants associating with urinary biomarkers

Author

Onderzoek Precision medicine, Circulatory Health, Team Medisch, Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Vogel, Lotte K, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, Asselbergs, Folkert W, Hreidarsson, Astradur B, Rafnar, Thorunn, Thorleifsson, Gudmar, Edvardsson, Vidar, Sigurdsson, Gunnar, Helgadottir, Anna, Halldorsson, Bjarni V, Masson, Gisli, Holm, Hilma, Onundarson, Pall T, Indridason, Olafur S, Benediktsson, Rafn, Palsson, Runolfur, Gudbjartsson, Daniel F, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Sulem, Patrick, Stefansson, Kari, Onderzoek Precision medicine, Circulatory Health, Team Medisch, Benonisdottir, Stefania, Kristjansson, Ragnar P, Oddsson, Asmundur, Steinthorsdottir, Valgerdur, Mikaelsdottir, Evgenia, Kehr, Birte, Jensson, Brynjar O, Arnadottir, Gudny A, Sulem, Gerald, Sveinbjornsson, Gardar, Kristmundsdottir, Snaedis, Ivarsdottir, Erna V, Vogel, Lotte K, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, Asselbergs, Folkert W, Hreidarsson, Astradur B, Rafnar, Thorunn, Thorleifsson, Gudmar, Edvardsson, Vidar, Sigurdsson, Gunnar, Helgadottir, Anna, Halldorsson, Bjarni V, Masson, Gisli, Holm, Hilma, Onundarson, Pall T, Indridason, Olafur S, Benediktsson, Rafn, Palsson, Runolfur, Gudbjartsson, Daniel F, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Sulem, Patrick, and Stefansson, Kari

Published
2019

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