DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Serum uric acid levels. The EFO term uric acid measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: uric acid measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

P Sulem, DF Gudbjartsson, GB Walters, HT Helgadottir, A Helgason, SA Gudjonsson, C Zanon, S Besenbacher, G Bjornsdottir, OT Magnusson, G Magnusson, E Hjartarson, J Saemundsdottir, A Gylfason, A Jonasdottir, H Holm, A Karason, T Rafnar, H Stefansson, OA Andreassen, JH Pedersen, AI Pack, MC de Visser, LA Kiemeney, AJ Geirsson, GI Eyjolfsson, I Olafsson, A Kong, G Masson, H Jonsson, U Thorsteinsdottir, I Jonsdottir, K Stefansson

TITLE:

Identification of low-frequency variants associated with gout and serum uric acid levels.

JOURNAL:

Nature genetics Oct 2011, Vol 43, pp. 1127-30

ABSTRACT:

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. PUBMED: 21983786
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