Genetic Variants Associated with Gout Discovered

Several genetic variants associated with gout and serum uric acid levels have been discovered by researchers from the Icelandic genomics company deCODE along with academic colleagues in Iceland, Norway, Denmark, the Netherlands, and the United States. The results were published online last month in Nature Genetics.

The findings were based on sequencing the entire genome of 457 Icelanders, from which 16 million single nucleotide polymorphisms (SNPs), or points in the genome that commonly vary, were identified. These 16 million SNPs were then meshed with genetic information from 41,675 Icelanders, including 1,200 with gout and over 22,000 for whom serum uric acid measurements were available.

The researchers discovered a genetic variant on chromosome 19 that causes an increase in serum uric acid level of 0.04 mol/L and a threefold increase in the likelihood of developing gout. Around 4% of individuals in Iceland have this variant, as well as around 0.2% of individuals assessed by the collaborating researchers.

The researchers also found a new variant associated with serum acid level and gout at a previously reported locus on chromosome 1. This variant decreases the likelihood of developing gout by 50% and the level of serum uric acid by 0.05 mmol/L. Around 3% of the Icelandic population has this variant, as well as 1.5% of Europeans. The variants each had a significantly greater impact on gout risk level for men, who are three times as likely to develop gout as are women, though their impact on serum uric acid levels did not vary by gender.

Sources:

deCODE Genetics, in Collaboration with Academic Colleagues and Illumina, Discovers Two Rare Variants that Affect the Risk of Gout and Serum Uric Acid Levels [deCODE Press Release]

Identification of low-frequency variants associated with gout and serum uric acid levels [Nature Genetics]