Identification of low-frequency variants associated with gout and serum uric acid levels.
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Gudbjartsson, Daniel F
Walters, G Bragi
Helgadottir, Hafdis T
Gudjonsson, Sigurjon A
Magnusson, Olafur T
Andreassen, Ole A
Pedersen, Jesper H
Pack, Allan I
de Visser, Marieke C H
Kiemeney, Lambertus A
Geirsson, Arni J
Eyjolfsson, Gudmundur I
MetadataShow full item record
CitationNat. Genet. 2011, 43(11):1127-30
AbstractWe 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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