Article
Identification of low-frequency variants associated with gout and serum uric acid levels.
Nature genetics - 9 Oct 2011
Sulem Patrick, Gudbjartsson 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
Abstract excerpt
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)...
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