| Identification of low-frequency variants associated with gout and serum uric acid levels. | |
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MedLine Citation:
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PMID: 21983786 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Patrick Sulem; Daniel F Gudbjartsson; G Bragi Walters; Hafdis T Helgadottir; Agnar Helgason; Sigurjon A Gudjonsson; Carlo Zanon; Soren Besenbacher; Gyda Bjornsdottir; Olafur T Magnusson; Gisli Magnusson; Eirikur Hjartarson; Jona Saemundsdottir; Arnaldur Gylfason; Adalbjorg Jonasdottir; Hilma Holm; Ari Karason; Thorunn Rafnar; Hreinn Stefansson; Ole A Andreassen; Jesper H Pedersen; Allan I Pack; Marieke C H de Visser; Lambertus A Kiemeney; Arni J Geirsson; Gudmundur I Eyjolfsson; Isleifur Olafsson; Augustine Kong; Gisli Masson; Helgi Jonsson; Unnur Thorsteinsdottir; Ingileif Jonsdottir; Kari Stefansson |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-09 |
Journal Detail:
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Title: Nature genetics Volume: - ISSN: 1546-1718 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1] deCODE genetics, Reykjavik, Iceland. [2]. |
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