45 results on '"Eyjolfsson, Gudmundur I."'
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2. Genetic Architecture of Vitamin B12 and Folate Levels Uncovered Applying Deeply Sequenced Large Datasets
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Grarup, Niels, Sulem, Patrick, Sandholt, Camilla H, Thorleifsson, Gudmar, Ahluwalia, Tarunveer S, Steinthorsdottir, Valgerdur, Bjarnason, Helgi, Gudbjartsson, Daniel F, Magnusson, Olafur T, Sparsø, Thomas, Albrechtsen, Anders, Kong, Augustine, Masson, Gisli, Tian, Geng, Cao, Hongzhi, Nie, Chao, Kristiansen, Karsten, Husemoen, Lise Lotte, Thuesen, Betina, Li, Yingrui, Nielsen, Rasmus, Linneberg, Allan, Olafsson, Isleifur, Eyjolfsson, Gudmundur I, Jørgensen, Torben, Wang, Jun, Hansen, Torben, Thorsteinsdottir, Unnur, Stefánsson, Kari, and Pedersen, Oluf
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Biotechnology ,Prevention ,Human Genome ,Genetics ,Nutrition ,2.1 Biological and endogenous factors ,Aetiology ,Cardiovascular ,Alzheimer Disease ,Denmark ,Exome ,Folic Acid ,Folic Acid Deficiency ,Genome ,Human ,Genome-Wide Association Study ,Humans ,Iceland ,Methylenetetrahydrofolate Reductase (NADPH2) ,Quantitative Trait Loci ,Vitamin B 12 ,Developmental Biology - Abstract
Genome-wide association studies have mainly relied on common HapMap sequence variations. Recently, sequencing approaches have allowed analysis of low frequency and rare variants in conjunction with common variants, thereby improving the search for functional variants and thus the understanding of the underlying biology of human traits and diseases. Here, we used a large Icelandic whole genome sequence dataset combined with Danish exome sequence data to gain insight into the genetic architecture of serum levels of vitamin B(12) (B12) and folate. Up to 22.9 million sequence variants were analyzed in combined samples of 45,576 and 37,341 individuals with serum B(12) and folate measurements, respectively. We found six novel loci associating with serum B(12) (CD320, TCN2, ABCD4, MMAA, MMACHC) or folate levels (FOLR3) and confirmed seven loci for these traits (TCN1, FUT6, FUT2, CUBN, CLYBL, MUT, MTHFR). Conditional analyses established that four loci contain additional independent signals. Interestingly, 13 of the 18 identified variants were coding and 11 of the 13 target genes have known functions related to B(12) and folate pathways. Contrary to epidemiological studies we did not find consistent association of the variants with cardiovascular diseases, cancers or Alzheimer's disease although some variants demonstrated pleiotropic effects. Although to some degree impeded by low statistical power for some of these conditions, these data suggest that sequence variants that contribute to the population diversity in serum B(12) or folate levels do not modify the risk of developing these conditions. Yet, the study demonstrates the value of combining whole genome and exome sequencing approaches to ascertain the genetic and molecular architectures underlying quantitative trait associations.
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- 2013
3. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis
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Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari
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- 2019
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4. Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis
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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
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- 2020
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5. Genome-wide association meta-analysis yields 20 loci associated with gallstone disease
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Ferkingstad, Egil, Oddsson, Asmundur, Gretarsdottir, Solveig, Benonisdottir, Stefania, Thorleifsson, Gudmar, Deaton, Aimee M., Jonsson, Stefan, Stefansson, Olafur A., Norddahl, Gudmundur L., Zink, Florian, Arnadottir, Gudny A., Gunnarsson, Bjarni, Halldorsson, Gisli H., Helgadottir, Anna, Jensson, Brynjar O., Kristjansson, Ragnar P., Sveinbjornsson, Gardar, Sverrisson, David A., Masson, Gisli, Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Holm, Hilma, Jonsdottir, Ingileif, Olafsson, Sigurdur, Steingrimsdottir, Thora, Rafnar, Thorunn, Bjornsson, Einar S., Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Sulem, Patrick, and Stefansson, Kari
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- 2018
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6. A rare missense variant in NR1H4 associates with lower cholesterol levels
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Deaton, Aimee M., Sulem, Patrick, Nioi, Paul, Benonisdottir, Stefania, Ward, Lucas D., Davidsson, Olafur B., Lao, Socheata, Helgadottir, Anna, Fan, Fan, Jensson, Brynjar O., Norddahl, Gudmundur L., Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Sigurdsson, Asgeir, Kristjansson, Ragnar P., Oddsson, Asmundur, Arnadottir, Gudny A., Jonsson, Hakon, Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Bjornsson, Einar S., Olafsson, Sigurdur, Steingrimsdottir, Thora, Rafnar, Thorunn, Thorgeirsson, Gudmundur, Masson, Gisli, Thorleifsson, Gudmar, Gudbjartsson, Daniel F., Holm, Hilma, Thorsteinsdottir, Unnur, and Stefansson, Kari
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- 2018
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7. Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease
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Nioi, Paul, Sigurdsson, Asgeir, Thorleifsson, Gudmar, Helgason, Hannes, Agustsdottir, Arna B., Norddahl, Gudmundur L., Helgadottir, Anna, Magnusdottir, Audur, Jonasdottir, Aslaug, Gretarsdottir, Solveig, Jonsdottir, Ingileif, Steinthorsdottir, Valgerdur, Rafnar, Thorunn, Swinkels, Dorine W., Galesloot, Tessel E., Grarup, Niels, Jørgensen, Torben, Vestergaard, Henrik, Hansen, Torben, Lauritzen, Torsten, Linneberg, Allan, Friedrich, Nele, Krarup, Nikolaj T., Fenger, Mogens, Abildgaard, Ulrik, Hansen, Peter R., Galløe, Anders M., Braund, Peter S., Nelson, Christopher P., Hall, Alistair S., Williams, Michael J.A., van Rij, Andre M., Jones, Gregory T., Patel, Riyaz S., Levey, Allan I., Hayek, Salim, Shah, Svati H., Reilly, Muredach, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Olafsson, Isleifur, Kiemeney, Lambertus A., Quyyumi, Arshed A., Rader, Daniel J., Kraus, William E., Samani, Nilesh J., Pedersen, Oluf, Thorgeirsson, Gudmundur, Masson, Gisli, Holm, Hilma, Gudbjartsson, Daniel, Sulem, Patrick, Thorsteinsdottir, Unnur, and Stefansson, Kari
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- 2016
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8. Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits
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Styrkarsdottir, Unnur, Thorleifsson, Gudmar, Sulem, Patrick, Gudbjartsson, Daniel F., Sigurdsson, Asgeir, Jonasdottir, Aslaug, Jonasdottir, Adalbjorg, Oddsson, Asmundur, Helgason, Agnar, Magnusson, Olafur T., Walters, G. Bragi, Frigge, Michael L., Helgadottir, Hafdis T., Johannsdottir, Hrefna, Bergsteinsdottir, Kristin, Ogmundsdottir, Margret H., Center, Jacqueline R., Nguyen, Tuan V., Eisman, John A., Christiansen, Claus, Steingrimsson, Erikur, Jonasson, Jon G., Tryggvadottir, Laufey, Eyjolfsson, Gudmundur I., Theodors, Asgeir, Jonsson, Thorvaldur, Ingvarsson, Thorvaldur, Olafsson, Isleifur, Rafnar, Thorunn, Kong, Augustine, Sigurdsson, Gunnar, Masson, Gisli, Thorsteinsdottir, Unnur, and Stefansson, Kari
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- 2013
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9. Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR
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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
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- 2021
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10. Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood
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Olafsson, Sigurgeir, primary, Alexandersson, Kristjan F., additional, Gizurarson, Johann G.K., additional, Hauksdottir, Katrin, additional, Gunnarsson, Orvar, additional, Olafsson, Karl, additional, Gudmundsson, Julius, additional, Stacey, Simon N., additional, Sveinbjornsson, Gardar, additional, Saemundsdottir, Jona, additional, Bjornsson, Einar S., additional, Olafsson, Sigurdur, additional, Bjornsson, Sigurdur, additional, Orvar, Kjartan B., additional, Vikingsson, Arnor, additional, Geirsson, Arni J., additional, Arinbjarnarson, Sturla, additional, Bjornsdottir, Gyda, additional, Thorgeirsson, Thorgeir E., additional, Sigurdsson, Snaevar, additional, Halldorsson, Gisli H., additional, Magnusson, Olafur T., additional, Masson, Gisli, additional, Holm, Hilma, additional, Jonsdottir, Ingileif, additional, Sigurdardottir, Olof, additional, Eyjolfsson, Gudmundur I., additional, Olafsson, Isleifur, additional, Sulem, Patrick, additional, Thorsteinsdottir, Unnur, additional, Jonsson, Thorvaldur, additional, Rafnar, Thorunn, additional, Gudbjartsson, Daniel F., additional, and Stefansson, Kari, additional
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- 2020
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11. Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes
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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
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- 2019
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12. Sequence variants associating with urinary biomarkers
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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
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- 2019
13. Sequence variants associating with urinary biomarkers
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Benonisdottir, Stefania, primary, Kristjansson, Ragnar P, additional, Oddsson, Asmundur, additional, Steinthorsdottir, Valgerdur, additional, Mikaelsdottir, Evgenia, additional, Kehr, Birte, additional, Jensson, Brynjar O, additional, Arnadottir, Gudny A, additional, Sulem, Gerald, additional, Sveinbjornsson, Gardar, additional, Kristmundsdottir, Snaedis, additional, Ivarsdottir, Erna V, additional, Tragante, Vinicius, additional, Gunnarsson, Bjarni, additional, Runolfsdottir, Hrafnhildur Linnet, additional, Arthur, Joseph G, additional, Deaton, Aimee M, additional, Eyjolfsson, Gudmundur I, additional, Davidsson, Olafur B, additional, Asselbergs, Folkert W, additional, Hreidarsson, Astradur B, additional, Rafnar, Thorunn, additional, Thorleifsson, Gudmar, additional, Edvardsson, Vidar, additional, Sigurdsson, Gunnar, additional, Helgadottir, Anna, additional, Halldorsson, Bjarni V, additional, Masson, Gisli, additional, Holm, Hilma, additional, Onundarson, Pall T, additional, Indridason, Olafur S, additional, Benediktsson, Rafn, additional, Palsson, Runolfur, additional, Gudbjartsson, Daniel F, additional, Olafsson, Isleifur, additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional
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- 2018
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14. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA
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Gudmundsson, Julius, primary, Sigurdsson, Jon K., additional, Stefansdottir, Lilja, additional, Agnarsson, Bjarni A., additional, Isaksson, Helgi J., additional, Stefansson, Olafur A., additional, Gudjonsson, Sigurjon A., additional, Gudbjartsson, Daniel F., additional, Masson, Gisli, additional, Frigge, Michael L., additional, Stacey, Simon N., additional, Sulem, Patrick, additional, Halldorsson, Gisli H., additional, Tragante, Vinicius, additional, Holm, Hilma, additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Jonsson, Thorvaldur, additional, Jonsson, Eirikur, additional, Barkardottir, Rosa B., additional, Hilmarsson, Rafn, additional, Asselbergs, Folkert W., additional, Geirsson, Gudmundur, additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, Thorleifsson, Gudmar, additional, and Stefansson, Kari, additional
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- 2018
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15. Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease
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Helgadottir, Anna, primary, Sulem, Patrick, additional, Thorgeirsson, Gudmundur, additional, Gretarsdottir, Solveig, additional, Thorleifsson, Gudmar, additional, Jensson, Brynjar Ö, additional, Arnadottir, Gudny A, additional, Olafsson, Isleifur, additional, Eyjolfsson, Gudmundur I, additional, Sigurdardottir, Olof, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F, additional, Holm, Hilma, additional, and Stefansson, Kari, additional
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- 2018
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16. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA
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Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, Stefansson, Kari, Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, and Stefansson, Kari
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- 2018
17. Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA
- Author
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Onderzoek Precision medicine, Circulatory Health, Team Medisch, Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, Stefansson, Kari, Onderzoek Precision medicine, Circulatory Health, Team Medisch, Gudmundsson, Julius, Sigurdsson, Jon K, Stefansdottir, Lilja, Agnarsson, Bjarni A, Isaksson, Helgi J, Stefansson, Olafur A, Gudjonsson, Sigurjon A, Gudbjartsson, Daniel F, Masson, Gisli, Frigge, Michael L, Stacey, Simon N, Sulem, Patrick, Halldorsson, Gisli H, Tragante, Vinicius, Holm, Hilma, Eyjolfsson, Gudmundur I, Sigurdardottir, Olof, Olafsson, Isleifur, Jonsson, Thorvaldur, Jonsson, Eirikur, Barkardottir, Rosa B, Hilmarsson, Rafn, Geirsson, Gudmundur, Asselbergs, Folkert W, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Thorleifsson, Gudmar, and Stefansson, Kari
- Published
- 2018
18. Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci
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Paul, Ds, Albers, Ca, Rendon, A, Voss, K, Stephens, J, Akkerman, Jan Willem N., Albers, Cornelis A., Ale, Algra, Abtehale Al Hussani, Hooman, Allayee, Franco, Anni, Asselbergs, Folkert W., Antony, Attwood, Beverley, Balkau, Stefania, Bandinelli, François, Bastardot, Saonli, Basu, Baumeister, Sebastian E., Jacques, Beckmann, Beben, Benyamin, Ginevra, Biino, Bis, Joshua C., Lorenzo, Bomba, Amélie, Bonnefond, Boomsma, Dorret I., Bradley, John R., François, Cambien, Chambers, John C., Marina, Ciullo, Cookson, William O., Francesco, Cucca, Ana, Cvejic, D'Adamo, ADAMO PIO, John, Danesh, Fabrice, Danjou, Debashish, Das, Gail, Davies, Paul IW de Bakker, de Boer, Rudolf A., Eco JC de Geus, Deary, Ian J., Dedoussis, George V., Panos, Deloukas, Maria, Dimitriou, Christian, Dina, Angela, Döring, Ulrich, Elling, David, Ellinghaus, Paul, Elliott, Gunnar, Engström, Jeanette, Erdmann, Tõnu, Esko, Evans, David M., Eyjolfsson, Gudmundur I., Mario, Falchi, Wei, Feng, Ferreira, Manuel A., Luigi, Ferrucci, Krista, Fischer, Folsom, Aaron R., Paolo, Fortina, Andre, Franke, Lude, Franke, Frazer, Ian H., Philippe, Froguel, Renzo, Galanello, Ganesh, Santhi K., Garner, Stephen F., Gasparini, Paolo, Bernd, Genser, Gibson, Quince D., Christian, Gieger, Girotto, Giorgia, Glazer, Nicole L., Martin, Gögele, Goodall, Alison H., Andreas, Greinacher, Gudbjartsson, Daniel F., Chris, Hammond, Harris, Sarah E., Jaana, Hartiala, Anna Liisa Hartikainen, Hazen, Stanley L., Heckbert, Susan R., Hedblad, Bo, Christian, Hengstenberg, Micha, Hersch, Hicks, Andrew A., Hilma, Holm, Jouke Jan Hottenga, Thomas, Illig, Marjo Riitta Jarvelin, Jennifer, Jolley, Steve, Jupe, Mika, Kähönen, Naoyuki, Kamatani, Stavroula, Kanoni, Kema, Ido P., Kemp, John P., Jyoti, Khadake, Kay Tee Khaw, Kleber, Marcus E., Kooner, Jaspal S., Peter, Kovacs, Brigitte, Kühnel, Marie Christine Kyrtsonis, Yann, Labrune, Vasiliki, Lagou, Claudia, Langenberg, Terho, Lehtimäki, Xinzhong, Li, Liming, Liang, Lifelines Cohort Study, Heather Lloyd Jones, Ruth JF Loos, Lopez, Lorna M., Thomas, Lumley, Leo Pekka Lyytikäinen, Winfried, Maerz, Reedik, Mägi, Massimo, Mangino, Martin, Nicholas G., Andrea, Maschio, Irene Mateo Leach, Barbara, Mcknight, Stuart, Meacham, Medland, Sarah E., Christa, Meisinger, Olle, Melander, Yasin, Memari, Andres, Metspalu, Kathy, Miller, Mitchell, Braxton D., Moffatt, Miriam F., Montgomery, Grant W., Carmel, Moore, Federico, Murgia, Yusuke, Nakamura, Matthias, Nauck, Gerjan, Navis, Nolte, Ilja M., Ute, Nöthlings, Teresa, Nutile, Yukinori, Okada, Isleifur, Olafsson, Onundarson, Pall T., O’Reilly, Paul F., Ouwehand, Willem H., Debora, Parracciani, Afshin, Parsa, Paul, Dirk S., Penninger, Josef M., Penninx, Brenda W., Mario, Pirastu, Pirastu, Nicola, Giorgio, Pistis, Eleonora, Porcu, Laura, Portas, David, Porteous, Anneli, Pouta, Pramstaller, Peter P., Inga, Prokopenko, Psaty, Bruce M., Janne, Pullat, Aparna, Radhakrishnan, Olli, Raitakari, Ramiro Ramirez Solis, Augusto, Rendon, Ried, Janina S., Ring, Susan M., Robino, Antonietta, Rotter, Jerome I., Daniela, Ruggiero, Aimo, Ruokonen, Cinzia, Sala, Andres, Saluments, Samani, Nilesh J., Jennifer, Sambrook, Serena, Sanna, David, Schlessinger, Schmidt, Carsten O., Stefan, Schreiber, Heribert, Schunkert, James, Scott, Joban, Sehmi, Jovana Serbanovic Canic, So Youn Shin, Shuldiner, Alan R., Rob, Sladek, Smit, Johannes H., George Davey Smith, Gustav Smith, J., Smith, Nicholas L., Harold, Snieder, Nicole, Soranzo, Rossella, Sorice, Spector, Timothy D., Starr, John M., Kari, Stefansson, Derek, Stemple, Jonathan, Stephens, Michael, Stumvoll, Patrick, Sulem, Atsushi, Takahashi, Sian Tsung Tan, Toshiko, Tanaka, Clara, Tang, Weihong, Tang, WH Wilson Tang, Kent, Taylor, Albert, Tenesa, Alexander, Teumer, Swee Lay Thein, Unnur, Thorsteinsdottir, Daniela, Toniolo, Anke, Tönjes, Traglia, Michela, Manuela, Uda, Sheila, Ulivi, Pim van der Harst, Ellen van der Schoot, C., van Gilst, Wiek H., Joost van Pelt, L., van Veldhuisen, Dirk J., Niek, Verweij, Visscher, Peter M., Uwe, Völker, Peter, Vollenweider, Katrin, Voss, Wareham, Nicholas J., Lorenz, Wernisch, Harm Jan Westra, Whitfield, John B., Herich, Wichmann, Wiggins, Kerri L., Gonneke, Willemsen, Winkelmann, Bernhard R., Gerald, Wirnsberger, Bruce HR Wolffenbuttel, Jian, Yang, Tsun Po Yang, Weihua, Zhang, Jing Hua Zhao, Paavo, Zitting, Jaap Jan Zwaginga, van der Harst, P, Chambers, Jc, Soranzo, N, Ouwehand, Wh, Deloukas, P., Paul, D, Albers, Ca, Rendon, A, Voss, K, Stephens, J, Jan Willem N., Akkerman, Cornelis A., Alber, Ale, Algra, Abtehale Al, Hussani, Hooman, Allayee, Franco, Anni, Folkert W., Asselberg, Antony, Attwood, Beverley, Balkau, Stefania, Bandinelli, François, Bastardot, Saonli, Basu, Sebastian E., Baumeister, Jacques, Beckmann, Beben, Benyamin, Ginevra, Biino, Joshua C., Bi, Lorenzo, Bomba, Amélie, Bonnefond, Dorret I., Boomsma, John R., Bradley, François, Cambien, John C., Chamber, Marina, Ciullo, William O., Cookson, Francesco, Cucca, Ana, Cvejic, D'Adamo, ADAMO PIO, John, Danesh, Fabrice, Danjou, Debashish, Da, Gail, Davie, Paul IW de, Bakker, Rudolf A., de Boer, Eco JC de, Geu, Ian J., Deary, George V., Dedoussi, Panos, Delouka, Maria, Dimitriou, Christian, Dina, Angela, Döring, Ulrich, Elling, David, Ellinghau, Paul, Elliott, Gunnar, Engström, Jeanette, Erdmann, Tõnu, Esko, David M., Evan, Gudmundur I., Eyjolfsson, Mario, Falchi, Wei, Feng, Manuel A., Ferreira, Luigi, Ferrucci, Krista, Fischer, Aaron R., Folsom, Paolo, Fortina, Andre, Franke, Lude, Franke, Ian H., Frazer, Philippe, Froguel, Renzo, Galanello, Santhi K., Ganesh, Stephen F., Garner, Gasparini, Paolo, Bernd, Genser, Quince D., Gibson, Christian, Gieger, Girotto, Giorgia, Nicole L., Glazer, Martin, Gögele, Alison H., Goodall, Andreas, Greinacher, Daniel F., Gudbjartsson, Chris, Hammond, Sarah E., Harri, Jaana, Hartiala, Anna Liisa, Hartikainen, Stanley L., Hazen, Susan R., Heckbert, Bo, Hedblad, Christian, Hengstenberg, Micha, Hersch, Andrew A., Hick, Hilma, Holm, Jouke Jan, Hottenga, Thomas, Illig, Marjo Riitta, Jarvelin, Jennifer, Jolley, Steve, Jupe, Mika, Kähönen, Naoyuki, Kamatani, Stavroula, Kanoni, Ido P., Kema, John P., Kemp, Jyoti, Khadake, Kay Tee, Khaw, Marcus E., Kleber, Jaspal S., Kooner, Peter, Kovac, Brigitte, Kühnel, Marie Christine, Kyrtsoni, Yann, Labrune, Vasiliki, Lagou, Claudia, Langenberg, Terho, Lehtimäki, Xinzhong, Li, Liming, Liang, Lifelines Cohort, Study, Heather Lloyd, Jone, Ruth JF, Loo, Lorna M., Lopez, Thomas, Lumley, Leo Pekka, Lyytikäinen, Winfried, Maerz, Reedik, Mägi, Massimo, Mangino, Nicholas G., Martin, Andrea, Maschio, Irene Mateo, Leach, Barbara, Mcknight, Stuart, Meacham, Sarah E., Medland, Christa, Meisinger, Olle, Melander, Yasin, Memari, Andres, Metspalu, Kathy, Miller, Braxton D., Mitchell, Miriam F., Moffatt, Grant W., Montgomery, Carmel, Moore, Federico, Murgia, Yusuke, Nakamura, Matthias, Nauck, Gerjan, Navi, Ilja M., Nolte, Ute, Nöthling, Teresa, Nutile, Yukinori, Okada, Isleifur, Olafsson, Pall T., Onundarson, Paul F., O’Reilly, Willem H., Ouwehand, Debora, Parracciani, Afshin, Parsa, Dirk S., Paul, Josef M., Penninger, Brenda W., Penninx, Mario, Pirastu, Pirastu, Nicola, Giorgio, Pisti, Eleonora, Porcu, Laura, Porta, David, Porteou, Anneli, Pouta, Peter P., Pramstaller, Inga, Prokopenko, Bruce M., Psaty, Janne, Pullat, Aparna, Radhakrishnan, Olli, Raitakari, Ramiro Ramirez, Soli, Augusto, Rendon, Janina S., Ried, Susan M., Ring, Robino, Antonietta, Jerome I., Rotter, Daniela, Ruggiero, Aimo, Ruokonen, Cinzia, Sala, Andres, Salument, Nilesh J., Samani, Jennifer, Sambrook, Serena, Sanna, David, Schlessinger, Carsten O., Schmidt, Stefan, Schreiber, Heribert, Schunkert, James, Scott, Joban, Sehmi, Jovana Serbanovic, Canic, So Youn, Shin, Alan R., Shuldiner, Rob, Sladek, Johannes H., Smit, George Davey, Smith, J., Gustav Smith, Nicholas L., Smith, Harold, Snieder, Nicole, Soranzo, Rossella, Sorice, Timothy D., Spector, John M., Starr, Kari, Stefansson, Derek, Stemple, Jonathan, Stephen, Michael, Stumvoll, Patrick, Sulem, Atsushi, Takahashi, Sian Tsung, Tan, Toshiko, Tanaka, Clara, Tang, Weihong, Tang, WH Wilson, Tang, Kent, Taylor, Albert, Tenesa, Alexander, Teumer, Swee Lay, Thein, Unnur, Thorsteinsdottir, Daniela, Toniolo, Anke, Tönje, Traglia, Michela, Manuela, Uda, Sheila, Ulivi, Pim van der, Harst, C., Ellen van der Schoot, Wiek H., van Gilst, L., Joost van Pelt, Dirk J., van Veldhuisen, Niek, Verweij, Peter M., Visscher, Uwe, Völker, Peter, Vollenweider, Katrin, Vo, Nicholas J., Wareham, Lorenz, Wernisch, Harm Jan, Westra, John B., Whitfield, Herich, Wichmann, Kerri L., Wiggin, Gonneke, Willemsen, Bernhard R., Winkelmann, Gerald, Wirnsberger, Bruce HR, Wolffenbuttel, Jian, Yang, Tsun Po, Yang, Weihua, Zhang, Jing Hua, Zhao, Paavo, Zitting, Jaap Jan, Zwaginga, van der Harst, P, Chambers, Jc, Soranzo, N, Ouwehand, Wh, Deloukas, P., Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, EMGO+ - Mental Health, Neuroscience Campus Amsterdam - Brain Imaging Technology, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England, UCL, UCL Canc Inst, London WC1E 6BT, England, Univ Cambridge, Dept Haematol, Cambridge CB2 0PT, England, Natl Hlth Serv NHS Blood & Transplant, Cambridge CB2 0PT, England, Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands, Inst Publ Hlth, MRC Biostat Unit, Cambridge CB2 0SR, England, NIHR Biomed Res Ctr, Cambridge CB2 0PT, England, Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, NL-9713 GZ Groningen, Netherlands, Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9713 GZ Groningen, Netherlands, Univ London Imperial Coll Sci Technol & Med, Dept Epidemiol & Biostat, London W2 1NY, England, Hammersmith Hosp, Imperial Coll Healthcare NHS Trust, London W12 0HS, England, Royal Brompton & Harefield Hosp NHS Trust, London SW3 6NP, England, Ealing Hosp NHS Trust, Southall UB1 3HW, Middx, England, Psychiatry, Epidemiology and Data Science, NCA - Brain mechanisms in health and disease, NCA - Neurobiology of mental health, EMGO - Mental health, NCA - Brain imaging technology, and Cardiovascular Centre (CVC)
- Subjects
Netherlands Twin Register (NTR) ,Erythrocytes ,Genome-wide association study ,UNCERTAINTY ,Regulatory Sequences, Nucleic Acid ,VARIANTS ,ANNOTATION ,COLORECTAL-CANCER ,Histones ,0302 clinical medicine ,BINDING ,Cluster Analysis ,Myeloid Cells ,Genetics (clinical) ,Genetics ,hematological trait ,0303 health sciences ,Chromosome Mapping ,MRP4 ABCC4 ,Chromatin ,Nucleosomes ,Phenotype ,Organ Specificity ,030220 oncology & carcinogenesis ,Blood Platelets ,Quantitative Trait Loci ,Biology ,Quantitative trait locus ,Polymorphism, Single Nucleotide ,DYNAMIN 3 ,03 medical and health sciences ,Quantitative Trait, Heritable ,MEGAKARYOCYTES ,Humans ,Cell Lineage ,ddc:610 ,GENOME-WIDE ASSOCIATION ,Enhancer ,Transcription factor ,Gene ,ChIA-PET ,030304 developmental biology ,Research ,Genetic Variation ,DNA ,Chromatin Assembly and Disassembly ,Genetic architecture ,Gene Expression Regulation ,Genome-Wide Association Study - Abstract
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. Nearly three-quarters of the 143 genetic signals associated with platelet and erythrocyte phenotypes identified by meta-analyses of genome-wide association (GWA) studies are located at non-protein-coding regions. Here, we assessed the role of candidate regulatory variants associated with cell type-restricted, closely related hematological quantitative traits in biologically relevant hematopoietic cell types. We used formaldehyde-assisted isolation of regulatory elements followed by next-generation sequencing (FAIRE-seq) to map regions of open chromatin in three primary human blood cells of the myeloid lineage. In the precursors of platelets and erythrocytes, as well as in monocytes, we found that open chromatin signatures reflect the corresponding hematopoietic lineages of the studied cell types and associate with the cell type-specific gene expression patterns. Dependent on their signal strength, open chromatin regions showed correlation with promoter and enhancer histone marks, distance to the transcription start site, and ontology classes of nearby genes. Cell type-restricted regions of open chromatin were enriched in sequence variants associated with hematological indices. The majority (63.6%) of such candidate functional variants at platelet quantitative trait loci (QTLs) coincided with binding sites of five transcription factors key in regulating megakaryopoiesis. We experimentally tested 13 candidate regulatory variants at 10 platelet QTLs and found that 10 (76.9%) affected protein binding, suggesting that this is a frequent mechanism by which regulatory variants influence quantitative trait levels. Our findings demonstrate that combining large-scale GWA data with open chromatin profiles of relevant cell types can be a powerful means of dissecting the genetic architecture of closely related quantitative traits. Marie-Curie Initial Training Network NETSIM British Heart Foundation RG/09/12/28096 National Institutes for Health RP-PG-0310-1002 Wellcome Trust 098051 info:eu-repo/grantAgreement/EC/FP7/282510
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- 2013
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19. Identification of sequence variants influencing immunoglobulin levels
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Jonsson, Stefan, primary, Sveinbjornsson, Gardar, additional, de Lapuente Portilla, Aitzkoa Lopez, additional, Swaminathan, Bhairavi, additional, Plomp, Rosina, additional, Dekkers, Gillian, additional, Ajore, Ram, additional, Ali, Mina, additional, Bentlage, Arthur E H, additional, Elmér, Evelina, additional, Eyjolfsson, Gudmundur I, additional, Gudjonsson, Sigurjon A, additional, Gullberg, Urban, additional, Gylfason, Arnaldur, additional, Halldorsson, Bjarni V, additional, Hansson, Markus, additional, Holm, Hilma, additional, Johansson, Åsa, additional, Johnsson, Ellinor, additional, Jonasdottir, Aslaug, additional, Ludviksson, Bjorn R, additional, Oddsson, Asmundur, additional, Olafsson, Isleifur, additional, Olafsson, Sigurgeir, additional, Sigurdardottir, Olof, additional, Sigurdsson, Asgeir, additional, Stefansdottir, Lilja, additional, Masson, Gisli, additional, Sulem, Patrick, additional, Wuhrer, Manfred, additional, Wihlborg, Anna-Karin, additional, Thorleifsson, Gudmar, additional, Gudbjartsson, Daniel F, additional, Thorsteinsdottir, Unnur, additional, Vidarsson, Gestur, additional, Jonsdottir, Ingileif, additional, Nilsson, Björn, additional, and Stefansson, Kari, additional
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- 2017
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20. A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease
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Bjornsson, Eythor, primary, Helgason, Hannes, additional, Halldorsson, Gisli, additional, Helgadottir, Anna, additional, Gylfason, Arnaldur, additional, Kehr, Birte, additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Oddsson, Asmundur, additional, Thorleifsson, Gudmar, additional, Magnusson, Olafur Th., additional, Gretarsdottir, Solveig, additional, Zink, Florian, additional, Kristjansson, Ragnar P., additional, Asgeirsdottir, Margret, additional, Swinkels, Dorine W., additional, Kiemeney, Lambertus A., additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Masson, Gisli, additional, Olafsson, Isleifur, additional, Thorgeirsson, Gudmundur, additional, Holm, Hilma, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F., additional, Sulem, Patrick, additional, and Stefansson, Kari, additional
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- 2017
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21. A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma
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Smith, Dirk, primary, Helgason, Hannes, additional, Sulem, Patrick, additional, Bjornsdottir, Unnur Steina, additional, Lim, Ai Ching, additional, Sveinbjornsson, Gardar, additional, Hasegawa, Haruki, additional, Brown, Michael, additional, Ketchem, Randal R., additional, Gavala, Monica, additional, Garrett, Logan, additional, Jonasdottir, Adalbjorg, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Magnusson, Olafur T., additional, Eyjolfsson, Gudmundur I., additional, Olafsson, Isleifur, additional, Onundarson, Pall Torfi, additional, Sigurdardottir, Olof, additional, Gislason, David, additional, Gislason, Thorarinn, additional, Ludviksson, Bjorn Runar, additional, Ludviksdottir, Dora, additional, Boezen, H. Marike, additional, Heinzmann, Andrea, additional, Krueger, Marcus, additional, Porsbjerg, Celeste, additional, Ahluwalia, Tarunveer S., additional, Waage, Johannes, additional, Backer, Vibeke, additional, Deichmann, Klaus A., additional, Koppelman, Gerard H., additional, Bønnelykke, Klaus, additional, Bisgaard, Hans, additional, Masson, Gisli, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F., additional, Johnston, James A., additional, Jonsdottir, Ingileif, additional, and Stefansson, Kari, additional
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- 2017
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22. A genome-wide association study yields five novel thyroid cancer risk loci
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Gudmundsson, Julius, primary, Thorleifsson, Gudmar, additional, Sigurdsson, Jon K., additional, Stefansdottir, Lilja, additional, Jonasson, Jon G., additional, Gudjonsson, Sigurjon A., additional, Gudbjartsson, Daniel F., additional, Masson, Gisli, additional, Johannsdottir, Hrefna, additional, Halldorsson, Gisli H., additional, Stacey, Simon N., additional, Helgason, Hannes, additional, Sulem, Patrick, additional, Senter, Leigha, additional, He, Huiling, additional, Liyanarachchi, Sandya, additional, Ringel, Matthew D., additional, Aguillo, Esperanza, additional, Panadero, Angeles, additional, Prats, Enrique, additional, Garcia-Castaño, Almudena, additional, De Juan, Ana, additional, Rivera, Fernando, additional, Xu, Li, additional, Kiemeney, Lambertus A., additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Kristvinsson, Hoskuldur, additional, Netea-Maier, Romana T., additional, Jonsson, Thorvaldur, additional, Mayordomo, Jose I., additional, Plantinga, Theo S., additional, Hjartarson, Hannes, additional, Hrafnkelsson, Jon, additional, Sturgis, Erich M., additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, de la Chapelle, Albert, additional, and Stefansson, Kari, additional
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- 2017
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23. Sequence variants associating with urinary biomarkers.
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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, Tragante, Vinicius, Gunnarsson, Bjarni, Runolfsdottir, Hrafnhildur Linnet, Arthur, Joseph G, Deaton, Aimee M, Eyjolfsson, Gudmundur I, Davidsson, Olafur B, and Asselbergs, Folkert W
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- 2019
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24. A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma
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Smith, Dirk, Helgason, Hannes, Sulem, Patrick, Bjornsdottir, Unnur Steina, Lim, Ai Ching, Sveinbjornsson, Gardar, Hasegawa, Haruki, Brown, Michael, Ketchem, Randal R, Gavala, Monica, Garrett, Logan, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Magnusson, Olafur T, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Onundarson, Pall Torfi, Sigurdardottir, Olof, Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn Runar, Ludviksdottir, Dora, Boezen, H Marike, Heinzmann, Andrea, Krueger, Marcus, Porsbjerg, Celeste, Ahluwalia, Tarunveer S, Waage, Johannes, Backer, Vibeke, Deichmann, Klaus A, Koppelman, Gerard H, Bønnelykke, Klaus, Bisgaard, Hans, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Johnston, James A, Jonsdottir, Ingileif, Stefansson, Kari, Smith, Dirk, Helgason, Hannes, Sulem, Patrick, Bjornsdottir, Unnur Steina, Lim, Ai Ching, Sveinbjornsson, Gardar, Hasegawa, Haruki, Brown, Michael, Ketchem, Randal R, Gavala, Monica, Garrett, Logan, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Magnusson, Olafur T, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Onundarson, Pall Torfi, Sigurdardottir, Olof, Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn Runar, Ludviksdottir, Dora, Boezen, H Marike, Heinzmann, Andrea, Krueger, Marcus, Porsbjerg, Celeste, Ahluwalia, Tarunveer S, Waage, Johannes, Backer, Vibeke, Deichmann, Klaus A, Koppelman, Gerard H, Bønnelykke, Klaus, Bisgaard, Hans, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Johnston, James A, Jonsdottir, Ingileif, and Stefansson, Kari
- Abstract
IL-33 is a tissue-derived cytokine that induces and amplifies eosinophilic inflammation and has emerged as a promising new drug target for asthma and allergic disease. Common variants at IL33 and IL1RL1, encoding the IL-33 receptor ST2, associate with eosinophil counts and asthma. Through whole-genome sequencing and imputation into the Icelandic population, we found a rare variant in IL33 (NM_001199640:exon7:c.487-1G>C (rs146597587-C), allele frequency = 0.65%) that disrupts a canonical splice acceptor site before the last coding exon. It is also found at low frequency in European populations. rs146597587-C associates with lower eosinophil counts (β = -0.21 SD, P = 2.5×10-16, N = 103,104), and reduced risk of asthma in Europeans (OR = 0.47; 95%CI: 0.32, 0.70, P = 1.8×10-4, N cases = 6,465, N controls = 302,977). Heterozygotes have about 40% lower total IL33 mRNA expression than non-carriers and allele-specific analysis based on RNA sequencing and phased genotypes shows that only 20% of the total expression is from the mutated chromosome. In half of those transcripts the mutation causes retention of the last intron, predicted to result in a premature stop codon that leads to truncation of 66 amino acids. The truncated IL-33 has normal intracellular localization but neither binds IL-33R/ST2 nor activates ST2-expressing cells. Together these data demonstrate that rs146597587-C is a loss of function mutation and support the hypothesis that IL-33 haploinsufficiency protects against asthma.
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- 2017
25. VariantASGR1Associated with a Reduced Risk of Coronary Artery Disease
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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
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- 2016
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26. Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease
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Helgadottir, Anna, primary, Gretarsdottir, Solveig, additional, Thorleifsson, Gudmar, additional, Hjartarson, Eirikur, additional, Sigurdsson, Asgeir, additional, Magnusdottir, Audur, additional, Jonasdottir, Aslaug, additional, Kristjansson, Helgi, additional, Sulem, Patrick, additional, Oddsson, Asmundur, additional, Sveinbjornsson, Gardar, additional, Steinthorsdottir, Valgerdur, additional, Rafnar, Thorunn, additional, Masson, Gisli, additional, Jonsdottir, Ingileif, additional, Olafsson, Isleifur, additional, Eyjolfsson, Gudmundur I, additional, Sigurdardottir, Olof, additional, Daneshpour, Maryam S, additional, Khalili, Davood, additional, Azizi, Fereidoun, additional, Swinkels, Dorine W, additional, Kiemeney, Lambertus, additional, Quyyumi, Arshed A, additional, Levey, Allan I, additional, Patel, Riyaz S, additional, Hayek, Salim S, additional, Gudmundsdottir, Ingibjorg J, additional, Thorgeirsson, Gudmundur, additional, Thorsteinsdottir, Unnur, additional, Gudbjartsson, Daniel F, additional, Holm, Hilma, additional, and Stefansson, Kari, additional
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- 2016
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27. Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
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Kristjansson, Ragnar P., primary, Oddsson, Asmundur, additional, Helgason, Hannes, additional, Sveinbjornsson, Gardar, additional, Arnadottir, Gudny A., additional, Jensson, Brynjar O., additional, Jonasdottir, Aslaug, additional, Jonasdottir, Adalbjorg, additional, Bragi Walters, G., additional, Sulem, Gerald, additional, Oskarsdottir, Arna, additional, Benonisdottir, Stefania, additional, Davidsson, Olafur B., additional, Masson, Gisli, additional, Th Magnusson, Olafur, additional, Holm, Hilma, additional, Sigurdardottir, Olof, additional, Jonsdottir, Ingileif, additional, Eyjolfsson, Gudmundur I., additional, Olafsson, Isleifur, additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional
- Published
- 2016
- Full Text
- View/download PDF
28. A loss-of-function variant in ALOX15protects against nasal polyps and chronic rhinosinusitis
- Author
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Kristjansson, Ragnar P., Benonisdottir, Stefania, Davidsson, Olafur B., Oddsson, Asmundur, Tragante, Vinicius, Sigurdsson, Jon K., Stefansdottir, Lilja, Jonsson, Stefan, Jensson, Brynjar O., Arthur, Joseph G., Arnadottir, Gudny A., Sulem, Gerald, Halldorsson, Bjarni V., Gunnarsson, Bjarni, Halldorsson, Gisli H., Stefansson, Olafur A., Oskarsson, Gudjon R., Deaton, Aimee M., Olafsson, Isleifur, Eyjolfsson, Gudmundur I., Sigurdardottir, Olof, Onundarson, Pall T., Gislason, David, Gislason, Thorarinn, Ludviksson, Bjorn R., Ludviksdottir, Dora, Olafsdottir, Thorunn A., Rafnar, Thorunn, Masson, Gisli, Zink, Florian, Bjornsdottir, Gyda, Magnusson, Olafur Th., Bjornsdottir, Unnur S., Thorleifsson, Gudmar, Norddahl, Gudmundur L., Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Sulem, Patrick, and Stefansson, Kari
- Abstract
Nasal polyps (NP) are lesions on the nasal and paranasal sinus mucosa and are a risk factor for chronic rhinosinusitis (CRS). We performed genome-wide association studies on NP and CRS in Iceland and the UK (using UK Biobank data) with 4,366 NP cases, 5,608 CRS cases, and >700,000 controls. We found 10 markers associated with NP and 2 with CRS. We also tested 210 markers reported to associate with eosinophil count, yielding 17 additional NP associations. Of the 27 NP signals, 7 associate with CRS and 13 with asthma. Most notably, a missense variant in ALOX15that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P=8.0 × 10−27, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P=1.1 × 10−8, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity. Our findings identify 15-LO as a potential target for therapeutic intervention in NP and CRS.
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- 2019
- Full Text
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29. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
- Author
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Chambers, John C., Zhang, Weihua, Sehmi, Joban, Li, Xinzhong, Wass, Mark N., Van der Harst, Pim, Holm, Hilma, Sanna, Serena, Kavousi, Maryam, Baumeister, Sebastian E., Coin, Lachlan J., Deng, Guohong, Gieger, Christian, Heard-Costa, Nancy L., Hottenga, Jouke-Jan, Kühnel, Brigitte, Kumar, Vinod, Lagou, Vasiliki, Liang, Liming, Luan, Jian'an, Vidal, Pedro Marques, Mateo Leach, Irene, O'Reilly, Paul F., Peden, John F., Rahmioglu, Nilufer, Soininen, Pasi, Speliotes, Elizabeth K., Yuan, Xin, Thorleifsson, Gudmar, Alizadeh, Behrooz Z., Atwood, Larry D., Borecki, Ingrid B., Brown, Morris J., Charoen, Pimphen, Cucca, Francesco, Das, Debashish, de Geus, Eco J. C., Dixon, Anna L., Döring, Angela, Ehret, Georg, Eyjolfsson, Gudmundur I., Farrall, Martin, Forouhi, Nita G., Friedrich, Nele, Goessling, Wolfram, Gudbjartsson, Daniel F., Harris, Tamara B., Hartikainen, Anna-Liisa, Heath, Simon, Hirschfield, Gideon M., Hofman, Albert, Homuth, Georg, Hyppönen, Elina, Janssen, Harry L. A., Johnson, Toby, Kangas, Antti J., Kema, Ido P., Kühn, Jens P., Lai, Sandra, Lathrop, Mark, Lerch, Markus M., Li, Yun, Liang, T. Jake, Lin, Jing-Ping, Loos, Ruth J. F., Martin, Nicholas G., Moffatt, Miriam F., Montgomery, Grant W., Munroe, Patricia B., Musunuru, Kiran, Nakamura, Yusuke, O'Donnell, Christopher J., Olafsson, Isleifur, Penninx, Brenda W., Pouta, Anneli, Prins, Bram P., Prokopenko, Inga, Puls, Ralf, Ruokonen, Aimo, Savolainen, Markku J., Schlessinger, David, Schouten, Jeoffrey N. L., Seedorf, Udo, Sen-Chowdhry, Srijita, Siminovitch, Katherine A., Smit, Johannes H., Spector, Timothy D., Tan, Wenting, Teslovich, Tanya M., Tukiainen, Taru, Uitterlinden, Andre G., Van der Klauw, Melanie M., Vasan, Ramachandran S., Wallace, Chris, Wallaschofski, Henri, Wichmann, H-Erich, Willemsen, Gonneke, Würtz, Peter, Xu, Chun, Yerges-Armstrong, Laura M., Alcohol Genome-wide Association Consortium, Diabetes Genetics Replication, Meta-analyses Study, Genetic Investigation of Anthropometric Traits Consortium, Global Lipids Genetics Consortium, Genetics of Liver Disease Consortium, International Consortium for Blood Pressure, Meta-analyses of Glucose, Insulin-Related Traits Consortium, Abecasis, Goncalo R., Ahmadi, Kourosh R., Boomsma, Dorret I., Caulfield, Mark, Cookson, William O., van Duijn, Cornelia M., Froguel, Philippe, Matsuda, Koichi, McCarthy, Mark I., Meisinger, Christa, Mooser, Vincent, Pietiläinen, Kirsi H., Schumann, Gunter, Snieder, Harold, Sternberg, Michael J. E., Stolk, Ronald P., Thomas, Howard C., Thorsteinsdottir, Unnur, Uda, Manuela, Waeber, Gérard, Wareham, Nicholas J., Waterworth, Dawn M., Watkins, Hugh, Whitfield, John B., Witteman, Jacqueline C. M., Wolffenbuttel, Bruce H. R., Fox, Caroline S., Ala-Korpela, Mika, Stefansson, Kari, Vollenweider, Peter, Völzke, Henry, Schadt, Eric E., Scott, James, Järvelin, Marjo-Riitta, Elliott, Paul, and Kooner, Jaspal S.
- Published
- 2011
- Full Text
- View/download PDF
30. Common and rare variants associated with kidney stones and biochemical traits
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Oddsson, Asmundur, primary, Sulem, Patrick, additional, Helgason, Hannes, additional, Edvardsson, Vidar O., additional, Thorleifsson, Gudmar, additional, Sveinbjörnsson, Gardar, additional, Haraldsdottir, Eik, additional, Eyjolfsson, Gudmundur I., additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Masson, Gisli, additional, Holm, Hilma, additional, Gudbjartsson, Daniel F., additional, Thorsteinsdottir, Unnur, additional, Indridason, Olafur S., additional, Palsson, Runolfur, additional, and Stefansson, Kari, additional
- Published
- 2015
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31. Large-scale whole-genome sequencing of the Icelandic population
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Gudbjartsson, Daniel F, primary, Helgason, Hannes, additional, Gudjonsson, Sigurjon A, additional, Zink, Florian, additional, Oddson, Asmundur, additional, Gylfason, Arnaldur, additional, Besenbacher, Soren, additional, Magnusson, Gisli, additional, Halldorsson, Bjarni V, additional, Hjartarson, Eirikur, additional, Sigurdsson, Gunnar Th, additional, Stacey, Simon N, additional, Frigge, Michael L, additional, Holm, Hilma, additional, Saemundsdottir, Jona, additional, Helgadottir, Hafdis Th, additional, Johannsdottir, Hrefna, additional, Sigfusson, Gunnlaugur, additional, Thorgeirsson, Gudmundur, additional, Sverrisson, Jon Th, additional, Gretarsdottir, Solveig, additional, Walters, G Bragi, additional, Rafnar, Thorunn, additional, Thjodleifsson, Bjarni, additional, Bjornsson, Einar S, additional, Olafsson, Sigurdur, additional, Thorarinsdottir, Hildur, additional, Steingrimsdottir, Thora, additional, Gudmundsdottir, Thora S, additional, Theodors, Asgeir, additional, Jonasson, Jon G, additional, Sigurdsson, Asgeir, additional, Bjornsdottir, Gyda, additional, Jonsson, Jon J, additional, Thorarensen, Olafur, additional, Ludvigsson, Petur, additional, Gudbjartsson, Hakon, additional, Eyjolfsson, Gudmundur I, additional, Sigurdardottir, Olof, additional, Olafsson, Isleifur, additional, Arnar, David O, additional, Magnusson, Olafur Th, additional, Kong, Augustine, additional, Masson, Gisli, additional, Thorsteinsdottir, Unnur, additional, Helgason, Agnar, additional, Sulem, Patrick, additional, and Stefansson, Kari, additional
- Published
- 2015
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32. Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene
- Author
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Mooser, Vincent, Gudbjartsson, Daniel F., DeSilva, Ranil, Stefansson, Kari, Waeber, Gérard, Milaneschi, Yuri, Singleton, Andrew B., Hernandez, Dena G., Bandinelli, Stefania, Elliott, Paul, Sigurdsson, Gunnar, Li, Yun, Zhang, Weihua, Kooner, Jaspal S., Guralnik, Jack M., Marek, Diana, Chambers, John, DiIorio, Angelo, Ferrucci, Luigi, Holm, Hilma, Waterworth, Dawn, Kapur, Karen, Beckmann, Noam D., Tanaka, Toshiko, Eyjolfsson, Gudmundur I., Thorsteinsdottir, Unnur, Bjornsdottir, Unnur S., Johnson, Toby, Sehmi, Joban, Styrkarsdottir, Unnur, Kutalik, Zoltán, and Scott, James
- Abstract
Calcium has a pivotal role in biological functions, and serum calcium levels have been associated with numerous disorders of bone and mineral metabolism, as well as with cardiovascular mortality. Here we report results from a genome-wide association study of serum calcium, integrating data from four independent cohorts including a total of 12,865 individuals of European and Indian Asian descent. Our meta-analysis shows that serum calcium is associated with SNPs in or near the calcium-sensing receptor (CASR) gene on 3q13. The top hit with a p-value of 6.3×10-37 is rs1801725, a missense variant, explaining 1.26% of the variance in serum calcium. This SNP had the strongest association in individuals of European descent, while for individuals of Indian Asian descent the top hit was rs17251221 (p = 1.1×10-21), a SNP in strong linkage disequilibrium with rs1801725. The strongest locus in CASR was shown to replicate in an independent Icelandic cohort of 4,126 individuals (p = 1.02×10-4). This genome-wide meta-analysis shows that common CASR variants modulate serum calcium levels in the adult general population, which confirms previous results in some candidate gene studies of the CASR locus. This study highlights the key role of CASR in calcium regulation.
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- 2010
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33. Identification of low-frequency variants associated with gout and serum uric acid levels
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Sulem, Patrick, Gudbjartsson, Daniel F, Walters, G Bragi, Helgadottir, Hafdis T, Helgason, Agnar, Gudjonsson, Sigurjon A, Zanon, Carlo, Besenbacher, Soren, Bjornsdottir, Gyda, Magnusson, Olafur T, Magnusson, Gisli, Hjartarson, Eirikur, Saemundsdottir, Jona, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Holm, Hilma, Karason, Ari, Rafnar, Thorunn, Stefansson, Hreinn, Andreassen, Ole A, Pedersen, Jesper H, Pack, Allan I, de Visser, Marieke C H, Kiemeney, Lambertus A, Geirsson, Arni J, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Kong, Augustine, Masson, Gisli, Jonsson, Helgi, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Stefansson, Kari, Sulem, Patrick, Gudbjartsson, Daniel F, Walters, G Bragi, Helgadottir, Hafdis T, Helgason, Agnar, Gudjonsson, Sigurjon A, Zanon, Carlo, Besenbacher, Soren, Bjornsdottir, Gyda, Magnusson, Olafur T, Magnusson, Gisli, Hjartarson, Eirikur, Saemundsdottir, Jona, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Holm, Hilma, Karason, Ari, Rafnar, Thorunn, Stefansson, Hreinn, Andreassen, Ole A, Pedersen, Jesper H, Pack, Allan I, de Visser, Marieke C H, Kiemeney, Lambertus A, Geirsson, Arni J, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Kong, Augustine, Masson, Gisli, Jonsson, Helgi, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, and Stefansson, Kari
- Abstract
We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 chip-genotyped Icelanders and their relatives, for effective sample sizes of 968 individuals with gout and 15,506 individuals for whom serum uric acid measurements were available. We identified a low-frequency missense variant (c.1580C>G) in ALDH16A1 associated with gout (OR = 3.12, P = 1.5 × 10(-16), at-risk allele frequency = 0.019) and serum uric acid levels (effect = 0.36 s.d., P = 4.5 × 10(-21)). We confirmed the association with gout by performing Sanger sequencing on 6,017 Icelanders. The association with gout was stronger in males relative to females. We also found a second variant on chromosome 1 associated with gout (OR = 1.92, P = 0.046, at-risk allele frequency = 0.986) and serum uric acid levels (effect = 0.48 s.d., P = 4.5 × 10(-16)). This variant is close to a common variant previously associated with serum uric acid levels. This work illustrates how whole-genome sequencing data allow the detection of associations between low-frequency variants and complex traits.
- Published
- 2011
34. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
- Author
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Gudbjartsson, Daniel F., Bjornsdottir, Unnur S., Halapi, Eva, Helgadottir, Anna, Sulem, Patrick, Jonsdottir, Gudrun M., Thorleifsson, Gudmar, Helgadottir, Hafdis, Steinthorsdottir, Valgerdur, Stefansson, Hreinn, Williams, Carolyn, Hui, Jennie, Beilby, John, Warrington, Nicole M., James, Alan, Palmer, Lyle J., Koppelman, Gerard H., Heinzmann, Andrea, Krueger, Marcus, Boezen, H. Marike, Wheatley, Amanda, Altmuller, Janine, Shin, Hyoung Doo, Uh, Soo-Taek, Cheong, Hyun Sub, Jonsdottir, Brynja, Gislason, David, Park, Choon-Sik, Rasmussen, Linda M., Porsbjerg, Celeste, Hansen, Jakob W., Backer, Vibeke, Werge, Thomas, Janson, Christer, Jönsson, Ulla-Britt, Ng, Maggie C. Y., Chan, Juliana, So, Wing Yee, Ma, Ronald, Shah, Svati H., Granger, Christopher B., Quyyumi, Arshed A., Levey, Allan I., Vaccarino, Viola, Reilly, Muredach P., Rader, Daniel J., Williams, Michael J. A., van Rij, Andre M., Jones, Gregory T., Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Boner, Attilio, Pescollderungg, Lydia, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Ludviksson, Bjorn R., Ludviksdottir, Dora, Eyjolfsson, Gudmundur I., Arnar, David, Thorgeirsson, Gudmundur, Deichmann, Klaus, Thompson, Philip J., Wjst, Matthias, Hall, Ian P., Postma, Dirkje S., Gislason, Thorarinn, Gulcher, Jeffrey, Kong, Augustine, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Stefansson, Kari, Gudbjartsson, Daniel F., Bjornsdottir, Unnur S., Halapi, Eva, Helgadottir, Anna, Sulem, Patrick, Jonsdottir, Gudrun M., Thorleifsson, Gudmar, Helgadottir, Hafdis, Steinthorsdottir, Valgerdur, Stefansson, Hreinn, Williams, Carolyn, Hui, Jennie, Beilby, John, Warrington, Nicole M., James, Alan, Palmer, Lyle J., Koppelman, Gerard H., Heinzmann, Andrea, Krueger, Marcus, Boezen, H. Marike, Wheatley, Amanda, Altmuller, Janine, Shin, Hyoung Doo, Uh, Soo-Taek, Cheong, Hyun Sub, Jonsdottir, Brynja, Gislason, David, Park, Choon-Sik, Rasmussen, Linda M., Porsbjerg, Celeste, Hansen, Jakob W., Backer, Vibeke, Werge, Thomas, Janson, Christer, Jönsson, Ulla-Britt, Ng, Maggie C. Y., Chan, Juliana, So, Wing Yee, Ma, Ronald, Shah, Svati H., Granger, Christopher B., Quyyumi, Arshed A., Levey, Allan I., Vaccarino, Viola, Reilly, Muredach P., Rader, Daniel J., Williams, Michael J. A., van Rij, Andre M., Jones, Gregory T., Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Boner, Attilio, Pescollderungg, Lydia, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Ludviksson, Bjorn R., Ludviksdottir, Dora, Eyjolfsson, Gudmundur I., Arnar, David, Thorgeirsson, Gudmundur, Deichmann, Klaus, Thompson, Philip J., Wjst, Matthias, Hall, Ian P., Postma, Dirkje S., Gislason, Thorarinn, Gulcher, Jeffrey, Kong, Augustine, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, and Stefansson, Kari
- Abstract
Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Icelanders. The most significant SNPs were studied further in 12,118 Europeans and 5,212 East Asians. SNPs at 2q12 (rs1420101), 2q13 (rs12619285), 3q21 (rs4857855), 5q31 (rs4143832) and 12q24 (rs3184504) reached genome-wide significance (P = 5.3 x 10(-14), 5.4 x 10(-10), 8.6 x 10(-17), 1.2 x 10(-10) and 6.5 x 10(-19), respectively). A SNP at IL1RL1 associated with asthma (P = 5.5 x 10(-12)) in a collection of ten different populations (7,996 cases and 44,890 controls). SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4.2 x 10(-6), 2.2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).
- Published
- 2009
- Full Text
- View/download PDF
35. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
- Author
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Gudbjartsson, Daniel F, Bjornsdottir, Unnur S, Halapi, Eva, Helgadottir, Anna, Sulem, Patrick, Jonsdottir, Gudrun M, Thorleifsson, Gudmar, Helgadottir, Hafdis, Steinthorsdottir, Valgerdur, Stefansson, Hreinn, Williams, Carolyn, Hui, Jennie, Beilby, John, Warrington, Nicole M, James, Alan, Palmer, Lyle J, Koppelman, Gerard H, Heinzmann, Andrea, Krueger, Marcus, Boezen, H Marike, Wheatley, Amanda, Altmuller, Janine, Shin, Hyoung Doo, Uh, Soo-Taek, Cheong, Hyun Sub, Jonsdottir, Brynja, Gislason, David, Park, Choon-Sik, Rasmussen, Linda M, Porsbjerg, Celeste, Hansen, Jakob W, Backer, Vibeke, Werge, Thomas, Janson, Christer, Jönsson, Ulla-Britt, Ng, Maggie C Y, Chan, Juliana, So, Wing Yee, Ma, Ronald, Shah, Svati H, Granger, Christopher B, Quyyumi, Arshed A, Levey, Allan I, Vaccarino, Viola, Reilly, Muredach P, Rader, Daniel J, Williams, Michael J A, van Rij, Andre M, Jones, Gregory T, Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Boner, Attilio, Pescollderungg, Lydia, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Ludviksson, Bjorn R, Ludviksdottir, Dora, Eyjolfsson, Gudmundur I, Arnar, David, Thorgeirsson, Gudmundur, Deichmann, Klaus, Thompson, Philip J, Wjst, Matthias, Hall, Ian P, Postma, Dirkje S, Gislason, Thorarinn, Gulcher, Jeffrey, Kong, Augustine, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Stefansson, Kari, Gudbjartsson, Daniel F, Bjornsdottir, Unnur S, Halapi, Eva, Helgadottir, Anna, Sulem, Patrick, Jonsdottir, Gudrun M, Thorleifsson, Gudmar, Helgadottir, Hafdis, Steinthorsdottir, Valgerdur, Stefansson, Hreinn, Williams, Carolyn, Hui, Jennie, Beilby, John, Warrington, Nicole M, James, Alan, Palmer, Lyle J, Koppelman, Gerard H, Heinzmann, Andrea, Krueger, Marcus, Boezen, H Marike, Wheatley, Amanda, Altmuller, Janine, Shin, Hyoung Doo, Uh, Soo-Taek, Cheong, Hyun Sub, Jonsdottir, Brynja, Gislason, David, Park, Choon-Sik, Rasmussen, Linda M, Porsbjerg, Celeste, Hansen, Jakob W, Backer, Vibeke, Werge, Thomas, Janson, Christer, Jönsson, Ulla-Britt, Ng, Maggie C Y, Chan, Juliana, So, Wing Yee, Ma, Ronald, Shah, Svati H, Granger, Christopher B, Quyyumi, Arshed A, Levey, Allan I, Vaccarino, Viola, Reilly, Muredach P, Rader, Daniel J, Williams, Michael J A, van Rij, Andre M, Jones, Gregory T, Trabetti, Elisabetta, Malerba, Giovanni, Pignatti, Pier Franco, Boner, Attilio, Pescollderungg, Lydia, Girelli, Domenico, Olivieri, Oliviero, Martinelli, Nicola, Ludviksson, Bjorn R, Ludviksdottir, Dora, Eyjolfsson, Gudmundur I, Arnar, David, Thorgeirsson, Gudmundur, Deichmann, Klaus, Thompson, Philip J, Wjst, Matthias, Hall, Ian P, Postma, Dirkje S, Gislason, Thorarinn, Gulcher, Jeffrey, Kong, Augustine, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, and Stefansson, Kari
- Abstract
Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Icelanders. The most significant SNPs were studied further in 12,118 Europeans and 5,212 East Asians. SNPs at 2q12 (rs1420101), 2q13 (rs12619285), 3q21 (rs4857855), 5q31 (rs4143832) and 12q24 (rs3184504) reached genome-wide significance (P = 5.3 x 10(-14), 5.4 x 10(-10), 8.6 x 10(-17), 1.2 x 10(-10) and 6.5 x 10(-19), respectively). A SNP at IL1RL1 associated with asthma (P = 5.5 x 10(-12)) in a collection of ten different populations (7,996 cases and 44,890 controls). SNPs at WDR36, IL33 and MYB that showed suggestive association with eosinophil counts were also associated with atopic asthma (P = 4.2 x 10(-6), 2.2 x 10(-5) and 2.4 x 10(-4), respectively). We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls).
- Published
- 2009
36. Discovery of common variants associated with low TSH levels and thyroid cancer risk
- Author
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Gudmundsson, Julius, primary, Sulem, Patrick, additional, Gudbjartsson, Daniel F, additional, Jonasson, Jon G, additional, Masson, Gisli, additional, He, Huiling, additional, Jonasdottir, Aslaug, additional, Sigurdsson, Asgeir, additional, Stacey, Simon N, additional, Johannsdottir, Hrefna, additional, Th Helgadottir, Hafdis, additional, Li, Wei, additional, Nagy, Rebecca, additional, Ringel, Matthew D, additional, Kloos, Richard T, additional, de Visser, Marieke C H, additional, Plantinga, Theo S, additional, den Heijer, Martin, additional, Aguillo, Esperanza, additional, Panadero, Angeles, additional, Prats, Enrique, additional, Garcia-Castaño, Almudena, additional, De Juan, Ana, additional, Rivera, Fernando, additional, Walters, G Bragi, additional, Bjarnason, Hjordis, additional, Tryggvadottir, Laufey, additional, Eyjolfsson, Gudmundur I, additional, Bjornsdottir, Unnur S, additional, Holm, Hilma, additional, Olafsson, Isleifur, additional, Kristjansson, Kristleifur, additional, Kristvinsson, Hoskuldur, additional, T Magnusson, Olafur, additional, Thorleifsson, Gudmar, additional, Gulcher, Jeffrey R, additional, Kong, Augustine, additional, Kiemeney, Lambertus ALM, additional, Jonsson, Thorvaldur, additional, Hjartarson, Hannes, additional, Mayordomo, Jose I, additional, Netea-Maier, Romana T, additional, de la Chapelle, Albert, additional, Hrafnkelsson, Jon, additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, and Stefansson, Kari, additional
- Published
- 2012
- Full Text
- View/download PDF
37. Identification of low-frequency variants associated with gout and serum uric acid levels
- Author
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Sulem, Patrick, primary, Gudbjartsson, Daniel F, additional, Walters, G Bragi, additional, Helgadottir, Hafdis T, additional, Helgason, Agnar, additional, Gudjonsson, Sigurjon A, additional, Zanon, Carlo, additional, Besenbacher, Soren, additional, Bjornsdottir, Gyda, additional, Magnusson, Olafur T, additional, Magnusson, Gisli, additional, Hjartarson, Eirikur, additional, Saemundsdottir, Jona, additional, Gylfason, Arnaldur, additional, Jonasdottir, Adalbjorg, additional, Holm, Hilma, additional, Karason, Ari, additional, Rafnar, Thorunn, additional, Stefansson, Hreinn, additional, Andreassen, Ole A, additional, Pedersen, Jesper H, additional, Pack, Allan I, additional, de Visser, Marieke C H, additional, Kiemeney, Lambertus A, additional, Geirsson, Arni J, additional, Eyjolfsson, Gudmundur I, additional, Olafsson, Isleifur, additional, Kong, Augustine, additional, Masson, Gisli, additional, Jonsson, Helgi, additional, Thorsteinsdottir, Unnur, additional, Jonsdottir, Ingileif, additional, and Stefansson, Kari, additional
- Published
- 2011
- Full Text
- View/download PDF
38. Genetic Correction of PSA Values Using Sequence Variants Associated with PSA Levels
- Author
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Gudmundsson, Julius, primary, Besenbacher, Soren, additional, Sulem, Patrick, additional, Gudbjartsson, Daniel F., additional, Olafsson, Isleifur, additional, Arinbjarnarson, Sturla, additional, Agnarsson, Bjarni A., additional, Benediktsdottir, Kristrun R., additional, Isaksson, Helgi J., additional, Kostic, Jelena P., additional, Gudjonsson, Sigurjon A., additional, Stacey, Simon N., additional, Gylfason, Arnaldur, additional, Sigurdsson, Asgeir, additional, Holm, Hilma, additional, Bjornsdottir, Unnur S., additional, Eyjolfsson, Gudmundur I., additional, Navarrete, Sebastian, additional, Fuertes, Fernando, additional, Garcia-Prats, Maria D., additional, Polo, Eduardo, additional, Checherita, Ionel A., additional, Jinga, Mariana, additional, Badea, Paula, additional, Aben, Katja K., additional, Schalken, Jack A., additional, van Oort, Inge M., additional, Sweep, Fred C., additional, Helfand, Brian T., additional, Davis, Michael, additional, Donovan, Jenny L., additional, Hamdy, Freddie C., additional, Kristjansson, Kristleifur, additional, Gulcher, Jeffrey R., additional, Masson, Gisli, additional, Kong, Augustine, additional, Catalona, William J., additional, Mayordomo, Jose I., additional, Geirsson, Gudmundur, additional, Einarsson, Gudmundur V., additional, Barkardottir, Rosa B., additional, Jonsson, Eirikur, additional, Jinga, Viorel, additional, Mates, Dana, additional, Kiemeney, Lambertus A., additional, Neal, David E., additional, Thorsteinsdottir, Unnur, additional, Rafnar, Thorunn, additional, and Stefansson, Kari, additional
- Published
- 2010
- Full Text
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39. Correction: Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases
- Author
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Gudbjartsson, Daniel F., primary, Holm, Hilma, additional, Indridason, Olafur S., additional, Thorleifsson, Gudmar, additional, Edvardsson, Vidar, additional, Sulem, Patrick, additional, de Vegt, Femmie, additional, d'Ancona, Frank C. H., additional, den Heijer, Martin, additional, Wetzels, Jack F. M., additional, Franzson, Leifur, additional, Rafnar, Thorunn, additional, Kristjansson, Kristleifur, additional, Bjornsdottir, Unnur S., additional, Eyjolfsson, Gudmundur I., additional, Kiemeney, Lambertus A., additional, Kong, Augustine, additional, Palsson, Runolfur, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional
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- 2010
- Full Text
- View/download PDF
40. Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases
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Gudbjartsson, Daniel F., primary, Holm, Hilma, additional, Indridason, Olafur S., additional, Thorleifsson, Gudmar, additional, Edvardsson, Vidar, additional, Sulem, Patrick, additional, de Vegt, Femmie, additional, d'Ancona, Frank C. H., additional, den Heijer, Martin, additional, Franzson, Leifur, additional, Rafnar, Thorunn, additional, Kristjansson, Kristleifur, additional, Bjornsdottir, Unnur S., additional, Eyjolfsson, Gudmundur I., additional, Kiemeney, Lambertus A., additional, Kong, Augustine, additional, Palsson, Runolfur, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional
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- 2010
- Full Text
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41. Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene
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Kapur, Karen, primary, Johnson, Toby, additional, Beckmann, Noam D., additional, Sehmi, Joban, additional, Tanaka, Toshiko, additional, Kutalik, Zoltán, additional, Styrkarsdottir, Unnur, additional, Zhang, Weihua, additional, Marek, Diana, additional, Gudbjartsson, Daniel F., additional, Milaneschi, Yuri, additional, Holm, Hilma, additional, DiIorio, Angelo, additional, Waterworth, Dawn, additional, Li, Yun, additional, Singleton, Andrew B., additional, Bjornsdottir, Unnur S., additional, Sigurdsson, Gunnar, additional, Hernandez, Dena G., additional, DeSilva, Ranil, additional, Elliott, Paul, additional, Eyjolfsson, Gudmundur I., additional, Guralnik, Jack M., additional, Scott, James, additional, Thorsteinsdottir, Unnur, additional, Bandinelli, Stefania, additional, Chambers, John, additional, Stefansson, Kari, additional, Waeber, Gérard, additional, Ferrucci, Luigi, additional, Kooner, Jaspal S., additional, Mooser, Vincent, additional, Vollenweider, Peter, additional, Beckmann, Jacques S., additional, Bochud, Murielle, additional, and Bergmann, Sven, additional
- Published
- 2010
- Full Text
- View/download PDF
42. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
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Gudbjartsson, Daniel F, primary, Bjornsdottir, Unnur S, additional, Halapi, Eva, additional, Helgadottir, Anna, additional, Sulem, Patrick, additional, Jonsdottir, Gudrun M, additional, Thorleifsson, Gudmar, additional, Helgadottir, Hafdis, additional, Steinthorsdottir, Valgerdur, additional, Stefansson, Hreinn, additional, Williams, Carolyn, additional, Hui, Jennie, additional, Beilby, John, additional, Warrington, Nicole M, additional, James, Alan, additional, Palmer, Lyle J, additional, Koppelman, Gerard H, additional, Heinzmann, Andrea, additional, Krueger, Marcus, additional, Boezen, H Marike, additional, Wheatley, Amanda, additional, Altmuller, Janine, additional, Shin, Hyoung Doo, additional, Uh, Soo-Taek, additional, Cheong, Hyun Sub, additional, Jonsdottir, Brynja, additional, Gislason, David, additional, Park, Choon-Sik, additional, Rasmussen, Linda M, additional, Porsbjerg, Celeste, additional, Hansen, Jakob W, additional, Backer, Vibeke, additional, Werge, Thomas, additional, Janson, Christer, additional, Jönsson, Ulla-Britt, additional, Ng, Maggie C Y, additional, Chan, Juliana, additional, So, Wing Yee, additional, Ma, Ronald, additional, Shah, Svati H, additional, Granger, Christopher B, additional, Quyyumi, Arshed A, additional, Levey, Allan I, additional, Vaccarino, Viola, additional, Reilly, Muredach P, additional, Rader, Daniel J, additional, Williams, Michael J A, additional, van Rij, Andre M, additional, Jones, Gregory T, additional, Trabetti, Elisabetta, additional, Malerba, Giovanni, additional, Pignatti, Pier Franco, additional, Boner, Attilio, additional, Pescollderungg, Lydia, additional, Girelli, Domenico, additional, Olivieri, Oliviero, additional, Martinelli, Nicola, additional, Ludviksson, Bjorn R, additional, Ludviksdottir, Dora, additional, Eyjolfsson, Gudmundur I, additional, Arnar, David, additional, Thorgeirsson, Gudmundur, additional, Deichmann, Klaus, additional, Thompson, Philip J, additional, Wjst, Matthias, additional, Hall, Ian P, additional, Postma, Dirkje S, additional, Gislason, Thorarinn, additional, Gulcher, Jeffrey, additional, Kong, Augustine, additional, Jonsdottir, Ingileif, additional, Thorsteinsdottir, Unnur, additional, and Stefansson, Kari, additional
- Published
- 2009
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43. Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations
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Gudmundsson, Julius, primary, Sulem, Patrick, additional, Gudbjartsson, Daniel F, additional, Jonasson, Jon G, additional, Sigurdsson, Asgeir, additional, Bergthorsson, Jon T, additional, He, Huiling, additional, Blondal, Thorarinn, additional, Geller, Frank, additional, Jakobsdottir, Margret, additional, Magnusdottir, Droplaug N, additional, Matthiasdottir, Sigurborg, additional, Stacey, Simon N, additional, Skarphedinsson, Oskar B, additional, Helgadottir, Hafdis, additional, Li, Wei, additional, Nagy, Rebecca, additional, Aguillo, Esperanza, additional, Faure, Eduardo, additional, Prats, Enrique, additional, Saez, Berta, additional, Martinez, Mariano, additional, Eyjolfsson, Gudmundur I, additional, Bjornsdottir, Unnur S, additional, Holm, Hilma, additional, Kristjansson, Kristleifur, additional, Frigge, Michael L, additional, Kristvinsson, Hoskuldur, additional, Gulcher, Jeffrey R, additional, Jonsson, Thorvaldur, additional, Rafnar, Thorunn, additional, Hjartarsson, Hannes, additional, Mayordomo, Jose I, additional, de la Chapelle, Albert, additional, Hrafnkelsson, Jon, additional, Thorsteinsdottir, Unnur, additional, Kong, Augustine, additional, and Stefansson, Kari, additional
- Published
- 2009
- Full Text
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44. Epidemiology of hairy cell leukemia in Iceland
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Kristinsson, Sigurdur Yngvi, primary, Vidarsson, Brynjar, additional, Agnarsson, Bjarni A, additional, Haraldsdottir, Vilhelmina, additional, Olafsson, Orn, additional, Johannesson, Gudmundur M, additional, Eyjolfsson, Gudmundur I, additional, Bjornsdottir, Johanna, additional, Onundarson, Pall T, additional, and Reykdal, Sigrun, additional
- Published
- 2002
- Full Text
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45. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
- Author
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Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, Coin LJ, Deng G, Gieger C, Heard-Costa NL, Hottenga JJ, Kühnel B, Kumar V, Lagou V, Liang L, Luan J, Vidal PM, Mateo Leach I, O'Reilly PF, Peden JF, Rahmioglu N, Soininen P, Speliotes EK, Yuan X, Thorleifsson G, Alizadeh BZ, Atwood LD, Borecki IB, Brown MJ, Charoen P, Cucca F, Das D, de Geus EJ, Dixon AL, Döring A, Ehret G, Eyjolfsson GI, Farrall M, Forouhi NG, Friedrich N, Goessling W, Gudbjartsson DF, Harris TB, Hartikainen AL, Heath S, Hirschfield GM, Hofman A, Homuth G, Hyppönen E, Janssen HL, Johnson T, Kangas AJ, Kema IP, Kühn JP, Lai S, Lathrop M, Lerch MM, Li Y, Liang TJ, Lin JP, Loos RJ, Martin NG, Moffatt MF, Montgomery GW, Munroe PB, Musunuru K, Nakamura Y, O'Donnell CJ, Olafsson I, Penninx BW, Pouta A, Prins BP, Prokopenko I, Puls R, Ruokonen A, Savolainen MJ, Schlessinger D, Schouten JN, Seedorf U, Sen-Chowdhry S, Siminovitch KA, Smit JH, Spector TD, Tan W, Teslovich TM, Tukiainen T, Uitterlinden AG, Van der Klauw MM, Vasan RS, Wallace C, Wallaschofski H, Wichmann HE, Willemsen G, Würtz P, Xu C, Yerges-Armstrong LM, Abecasis GR, Ahmadi KR, Boomsma DI, Caulfield M, Cookson WO, van Duijn CM, Froguel P, Matsuda K, McCarthy MI, Meisinger C, Mooser V, Pietiläinen KH, Schumann G, Snieder H, Sternberg MJ, Stolk RP, Thomas HC, Thorsteinsdottir U, Uda M, Waeber G, Wareham NJ, Waterworth DM, Watkins H, Whitfield JB, Witteman JC, Wolffenbuttel BH, Fox CS, Ala-Korpela M, Stefansson K, Vollenweider P, Völzke H, Schadt EE, Scott J, Järvelin MR, Elliott P, and Kooner JS
- Subjects
- Delta-5 Fatty Acid Desaturase, Enzymes genetics, Humans, Polymorphism, Single Nucleotide, Enzymes blood, Genome-Wide Association Study, Liver enzymology
- Abstract
Concentrations of liver enzymes in plasma are widely used as indicators of liver disease. We carried out a genome-wide association study in 61,089 individuals, identifying 42 loci associated with concentrations of liver enzymes in plasma, of which 32 are new associations (P = 10(-8) to P = 10(-190)). We used functional genomic approaches including metabonomic profiling and gene expression analyses to identify probable candidate genes at these regions. We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827). Our results provide new insight into genetic mechanisms and pathways influencing markers of liver function.
- Published
- 2011
- Full Text
- View/download PDF
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