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Sequence variants associating with urinary biomarkers.

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Authors
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
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
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Issue Date
2019-04-01

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Citation
Sequence variants associating with urinary biomarkers. 2019, 28(7):1199-1211 Hum Mol Genet.
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.
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Additional Links
https://academic.oup.com/hmg/article/28/7/1199/5204138
ae974a485f413a2113503eed53cd6c53
10.1093/hmg/ddy409
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English Journal Articles (Peer Reviewed)

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