• English
    • íslenska
  • English 
    • English
    • íslenska
  • Login
View Item 
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
  •   Home
  • Journal Articles, Peer Reviewed (Ritrýndar vísindagreinar)
  • English Journal Articles (Peer Reviewed)
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Browse

All of HirslaCommunitiesAuthorsTitleSubjectsSubject (MeSH)Issue DateJournalThis CollectionAuthorsTitleSubjectsSubject (MeSH)Issue DateJournal

My Account

LoginRegister

Local Links

FAQ - (Icelandic)FAQ - (English)Hirsla LogosAbout LandspitaliLSH Home PageLibrary HomeIcelandic Journals

Statistics

Display statistics

Rare mutations associating with serum creatinine and chronic kidney disease.

  • CSV
  • RefMan
  • EndNote
  • BibTex
  • RefWorks
Average rating
 
   votes
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item. When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
 
Your vote was cast
Thank you for your feedback
Authors
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
Stefansson, Kari
Show allShow less
Issue Date
2014-12-20

Metadata
Show full item record
Citation
Hum. Mol. Genet. 2014, 23 (25):6935-43
Abstract
Chronic kidney disease (CKD) is a complex disorder with a strong genetic component. A number of common sequence variants have been found to associate with serum creatinine (SCr), estimated glomerular filtration rate (eGFR) and/or CKD. We imputed 24 million single-nucleotide polymorphisms and insertions/deletions identified by whole-genome sequencing of 2230 Icelanders into 81 656 chip-typed individuals and 112 630 relatives of genotyped individuals over the age of 18 with SCr measurements. The large set of sequenced individuals allowed accurate imputation of variants to a minor allele frequency (MAF) of 0.1%. We tested the imputed variants for association with SCr. In addition to replicating established loci, we discovered missense and loss-of-function variants associating with SCr in three solute carriers (SLC6A19, SLC25A45 and SLC47A1) and two E3 ubiquitin ligases (RNF186 and RNF128). All the variants are within coding sequences and all but one are rare (MAF <2%) with SCr effects between 0.085 and 0.129 standard deviations. These rare variants have a larger effect on SCr than previously reported common variants, explaining 0.5% of the variability of SCr in Icelanders in addition to the 1% already accounted for. We tested the five variants associating with SCr for association with CKD in an Icelandic sample of 15 594 cases and 291 428 controls. Three of the variants also associated with CKD. These variants may either affect kidney function or creatinine synthesis and excretion. Of note were four mutations in SLC6A19 that associate with reduced SCr, three of which have been shown to cause Hartnup disease.
Description
To access publisher's full text version of this article click on the hyperlink at the bottom of the page
Additional Links
http://hmg.oxfordjournals.org/content/23/25/6935.full.pdf
http://dx.doi.org/10.1093/hmg/ddu399
Rights
Archived with thanks to Human molecular genetics
ae974a485f413a2113503eed53cd6c53
10.1093/hmg/ddu399
Scopus Count
Collections
English Journal Articles (Peer Reviewed)

entitlement

Related articles

  • Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study.
  • Authors: Hishida A, Nakatochi M, Akiyama M, Kamatani Y, Nishiyama T, Ito H, Oze I, Nishida Y, Hara M, Takashima N, Turin TC, Watanabe M, Suzuki S, Ibusuki R, Shimoshikiryo I, Nakamura Y, Mikami H, Ikezaki H, Furusyo N, Kuriki K, Endoh K, Koyama T, Matsui D, Uemura H, Arisawa K, Sasakabe T, Okada R, Kawai S, Naito M, Momozawa Y, Kubo M, Wakai K, Japan Multi-Institutional Collaborative Cohort (J-MICC) Study Group.
  • Issue date: 2018
  • Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium.
  • Authors: Wuttke M, Wong CS, Wühl E, Epting D, Luo L, Hoppmann A, Doyon A, Li Y, CKDGen Consortium., Sözeri B, Thurn D, Helmstädter M, Huber TB, Blydt-Hansen TD, Kramer-Zucker A, Mehls O, Melk A, Querfeld U, Furth SL, Warady BA, Schaefer F, Köttgen A
  • Issue date: 2016 Feb
  • Low prevalence of apolipoprotein L1 gene variants in Black South Africans with hypertension-attributed chronic kidney disease
.
  • Authors: Nqebelele NU, Dickens C, Dix-Peek T, Duarte R, Naicker S
  • Issue date: 2019 Jan
  • Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
  • Authors: Gudbjartsson DF, Holm H, Indridason OS, Thorleifsson G, Edvardsson V, Sulem P, de Vegt F, d'Ancona FC, den Heijer M, Wetzels JF, Franzson L, Rafnar T, Kristjansson K, Bjornsdottir US, Eyjolfsson GI, Kiemeney LA, Kong A, Palsson R, Thorsteinsdottir U, Stefansson K
  • Issue date: 2010 Jul 29
  • Metabolite Genome-Wide Association Study for Indoleamine 2,3-Dioxygenase Activity Associated with Chronic Kidney Disease.
  • Authors: Kim HR, Jin HS, Eom YB
  • Issue date: 2021 Nov 27

DSpace software (copyright © 2002 - 2022)  DuraSpace
Quick Guide | Contact Us
Open Repository is a service operated by 
Atmire NV
 

Export search results

The export option will allow you to export the current search results of the entered query to a file. Different formats are available for download. To export the items, click on the button corresponding with the preferred download format.

By default, clicking on the export buttons will result in a download of the allowed maximum amount of items.

To select a subset of the search results, click "Selective Export" button and make a selection of the items you want to export. The amount of items that can be exported at once is similarly restricted as the full export.

After making a selection, click one of the export format buttons. The amount of items that will be exported is indicated in the bubble next to export format.