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Sequence variants associating with urinary biomarkers

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dc.contributor Háskólinn í Reykjavík
dc.contributor Reykjavik University
dc.contributor Háskóli Íslands
dc.contributor University of Iceland
dc.contributor.author Benonisdottir, Stefania
dc.contributor.author Kristjansson, Ragnar P
dc.contributor.author Oddsson, Asmundur
dc.contributor.author Steinthorsdottir, Valgerdur
dc.contributor.author Mikaelsdottir, Evgenia
dc.contributor.author Kehr, Birte
dc.contributor.author Jensson, Brynjar O
dc.contributor.author Arnadottir, Gudny A
dc.contributor.author Sulem, Gerald
dc.contributor.author Sveinbjornsson, Gardar
dc.contributor.author Kristmundsdóttir, Snædís
dc.contributor.author Ívarsdóttir, Erna V.
dc.contributor.author Tragante, Vinicius
dc.contributor.author Gunnarsson, Bjarni
dc.contributor.author Runolfsdottir, Hrafnhildur Linnet
dc.contributor.author Arthur, Joseph G
dc.contributor.author Deaton, Aimee M
dc.contributor.author Eyjolfsson, Gudmundur I
dc.contributor.author Davidsson, Olafur B
dc.contributor.author Asselbergs, Folkert W
dc.contributor.author Hreidarsson, Astradur B
dc.contributor.author Rafnar, Thorunn
dc.contributor.author Thorleifsson, Gudmar
dc.contributor.author Edvardsson, Vidar
dc.contributor.author Sigurdsson, Gunnar
dc.contributor.author Helgadottir, Anna
dc.contributor.author Halldórsson, Bjarni
dc.contributor.author Masson, Gisli
dc.contributor.author Holm, Hilma
dc.contributor.author Önundarson, Páll Torfi
dc.contributor.author Indridason, Olafur S
dc.contributor.author Benediktsson, Rafn
dc.contributor.author Palsson, Runolfur
dc.contributor.author Gudbjartsson, Daniel F
dc.contributor.author Olafsson, Isleifur
dc.contributor.author Thorsteinsdottir, Unnur
dc.contributor.author Sulem, Patrick
dc.contributor.author Stefansson, Kari
dc.date.accessioned 2020-09-29T14:59:04Z
dc.date.available 2020-09-29T14:59:04Z
dc.date.issued 2018-11-24
dc.identifier.citation Benonisdottir, S., Kristjansson, R. P., Oddsson, A., Steinthorsdottir, V., Mikaelsdottir, E., Kehr, B., Jensson, B. O., Arnadottir, G. A., Sulem, G., Sveinbjornsson, G., Kristmundsdottir, S., Ivarsdottir, E. V., Tragante, V., Gunnarsson, B., Runolfsdottir, H. L., Arthur, J. G., Deaton, A. M., Eyjolfsson, G. I., Davidsson, O. B., … Stefansson, K. (2019). Sequence variants associating with urinary biomarkers. Human Molecular Genetics, 28(7), 1199–1211. https://doi.org/10.1093/hmg/ddy409
dc.identifier.issn 0964-6906
dc.identifier.issn 1460-2083 (eISSN)
dc.identifier.uri https://hdl.handle.net/20.500.11815/2082
dc.description Publisher´s version (útgefin grein)
dc.description.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.
dc.format.extent 1199-1211
dc.language.iso en
dc.publisher Oxford University Press (OUP)
dc.relation.ispartofseries Human Molecular Genetics;28(7)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Genetics
dc.subject Molecular Biology
dc.subject Human molecular genetics
dc.subject Biomarkers
dc.subject Urine
dc.subject Genes
dc.subject Kidney diseases
dc.subject Kidney stones
dc.subject Genetic variation
dc.subject Erfðafræði
dc.subject Sameindalíffræði
dc.subject Sameindaerfðafræði
dc.subject Lífsýni
dc.subject Þvag
dc.subject Gen
dc.subject Nýrnasjúkdómar
dc.subject Nýrnasteinar
dc.subject Erfðabreytileiki
dc.title Sequence variants associating with urinary biomarkers
dc.type info:eu-repo/semantics/article
dcterms.license © The Author(s) 2018. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
dc.description.version "Peer Reviewed"
dc.identifier.doi 10.1093/hmg/ddy409
dc.relation.url http://academic.oup.com/hmg/article-pdf/28/7/1199/28073446/ddy409.pdf
dc.contributor.department Læknadeild (HÍ)
dc.contributor.department Faculty of Medicine (UI)
dc.contributor.school Tækni- og verkfræðideild (HR)
dc.contributor.school School of Science and Engineering (RU)
dc.contributor.school Verkfræði- og náttúruvísindasvið (HÍ)
dc.contributor.school School of Engineering and Natural Sciences (UI)
dc.contributor.school Heilbrigðisvísindasvið (HÍ)
dc.contributor.school School of Health Sciences (UI)


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