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6 results on '"Holm, Hilma"'

1. Rare mutations associating with serum creatinine and chronic kidney disease

Author

Sveinbjornsson, Gardar, Mikaelsdottir, Evgenia, Palsson, Runolfur, Indridason, Olafur S., Holm, Hilma, Jonasdottir, Aslaug, Helgason, Agnar, Sigurdsson, Snaevar, Jonasdottir, Adalbjorg, Sigurdsson, Asgeir, Eyjolfsson, Gudmundur Ingi, Sigurdardottir, Olof, Magnusson, Olafur Th., Kong, Augustine, Masson, Gisli, Sulem, Patrick, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., and Stefansson, Kari

Published
2014
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2. Sequence variants at CYP1A1–CYP1A2 and AHR associate with coffee consumption

Author

Sulem, Patrick, Gudbjartsson, Daniel F., Geller, Frank, Prokopenko, Inga, Feenstra, Bjarke, Aben, Katja K.H., Franke, Barbara, den Heijer, Martin, Kovacs, Peter, Stumvoll, Michael, Mägi, Reedik, Yanek, Lisa R., Becker, Lewis C., Boyd, Heather A., Stacey, Simon N., Walters, G. Bragi, Jonasdottir, Adalbjorg, Thorleifsson, Gudmar, Holm, Hilma, Gudjonsson, Sigurjon A., Rafnar, Thorunn, Björnsdottir, Gyda, Becker, Diane M., Melbye, Mads, Kong, Augustine, Tönjes, Anke, Thorgeirsson, Thorgeir, Thorsteinsdottir, Unnur, Kiemeney, Lambertus A., and Stefansson, Kari

Published
2011
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3. Sequence variants associating with urinary biomarkers

Author

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

Published
2018
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4. A rare splice donor mutation in the haptoglobin gene associates with blood lipid levels and coronary artery disease

Author

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

Published
2017
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5. Rare mutations associating with serum creatinine and chronic kidney disease.

Author

Sveinbjornsson, Gardar, Mikaelsdottir, Evgenia, Palsson, Runolfur, Indridason, Olafur S., Holm, Hilma, Jonasdottir, Aslaug, Helgason, Agnar, Sigurdsson, Snaevar, Jonasdottir, Adalbjorg, Sigurdsson, Asgeir, Eyjolfsson, Gudmundur Ingi, Sigurdardottir, Olof, Magnusson, Olafur Th., Kong, Augustine, Masson, Gisli, Sulem, Patrick, Olafsson, Isleifur, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., and Stefansson, Kari

Published
2012
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6. Sequence variants associating with urinary biomarkers.

Author

Benonisdottir S, Kristjansson RP, Oddsson A, Steinthorsdottir V, Mikaelsdottir E, Kehr B, Jensson BO, Arnadottir GA, Sulem G, Sveinbjornsson G, Kristmundsdottir S, Ivarsdottir EV, Tragante V, Gunnarsson B, Runolfsdottir HL, Arthur JG, Deaton AM, Eyjolfsson GI, Davidsson OB, Asselbergs FW, Hreidarsson AB, Rafnar T, Thorleifsson G, Edvardsson V, Sigurdsson G, Helgadottir A, Halldorsson BV, Masson G, Holm H, Onundarson PT, Indridason OS, Benediktsson R, Palsson R, Gudbjartsson DF, Olafsson I, Thorsteinsdottir U, Sulem P, and Stefansson K

Subjects
Adult, Aged, Alleles, Female, Hematuria genetics, Hematuria urine, Humans, Hydrogen-Ion Concentration, Iceland, Ketosis genetics, Ketosis urine, Kidney metabolism, Male, Middle Aged, Proteinuria genetics, Proteinuria urine, Sodium-Glucose Transporter 2 genetics, Whole Genome Sequencing methods, Biomarkers analysis, Biomarkers urine, Genetic Variation genetics
Abstract

Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract and metabolic diseases. Several environmental factors are known to affect the test results, whereas the effects of genetic diversity are largely unknown. We tested 32.5 million sequence variants for association with urinary biomarkers in a set of 150 274 Icelanders with urine dipstick measurements. We detected 20 association signals, of which 14 are novel, associating with at least one of five clinical entities defined by the urine dipstick: glucosuria, ketonuria, proteinuria, hematuria and urine pH. These include three independent glucosuria variants at SLC5A2, the gene encoding the sodium-dependent glucose transporter (SGLT2), a protein targeted pharmacologically to increase urinary glucose excretion in the treatment of diabetes. Two variants associating with proteinuria are in LRP2 and CUBN, encoding the co-transporters megalin and cubilin, respectively, that mediate proximal tubule protein uptake. One of the hematuria-associated variants is a rare, previously unreported 2.5 kb exonic deletion in COL4A3. Of the four signals associated with urine pH, we note that the pH-increasing alleles of two variants (POU2AF1, WDR72) associate significantly with increased risk of kidney stones. Our results reveal that genetic factors affect variability in urinary biomarkers, in both a disease dependent and independent context., (© The Author(s) 2018. Published by Oxford University Press.)

Published
2019
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