Identification of low-frequency variants associated with gout and serum uric acid levels.
Average rating
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
Thank you for your feedback
Authors
Sulem, PatrickGudbjartsson, 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
Issue Date
2011-11
Metadata
Show full item recordCitation
Nat. Genet. 2011, 43(11):1127-30Abstract
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.Description
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field.Additional Links
http://dx.doi.org/10.1038/ng.972Rights
Archived with thanks to Nature geneticsae974a485f413a2113503eed53cd6c53
10.1038/ng.972
Scopus Count
Collections
Related articles
- Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
- Authors: Dehghan A, Köttgen A, Yang Q, Hwang SJ, Kao WL, Rivadeneira F, Boerwinkle E, Levy D, Hofman A, Astor BC, Benjamin EJ, van Duijn CM, Witteman JC, Coresh J, Fox CS
- Issue date: 2008 Dec 6
- Common Variants in LRP2 and COMT Genes Affect the Susceptibility of Gout in a Chinese Population.
- Authors: Dong Z, Zhao D, Yang C, Zhou J, Qian Q, Ma Y, He H, Ji H, Yang Y, Wang X, Xu X, Pang Y, Zou H, Jin L, Wang J
- Issue date: 2015
- Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
- Authors: Tin A, Woodward OM, Kao WH, Liu CT, Lu X, Nalls MA, Shriner D, Semmo M, Akylbekova EL, Wyatt SB, Hwang SJ, Yang Q, Zonderman AB, Adeyemo AA, Palmer C, Meng Y, Reilly M, Shlipak MG, Siscovick D, Evans MK, Rotimi CN, Flessner MF, Köttgen M, Cupples LA, Fox CS, Köttgen A, CARe and CHARGE Consortia.
- Issue date: 2011 Oct 15
- Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.
- Authors: McArdle PF, Parsa A, Chang YP, Weir MR, O'Connell JR, Mitchell BD, Shuldiner AR
- Issue date: 2008 Sep
- Common variants in the <i>SLC28A2</i> gene are associated with serum uric acid level and hyperuricemia and gout in Han Chinese.
- Authors: Zhou Z, Li Z, Wang C, Li X, Cheng X, Li C, Shi Y
- Issue date: 2019