Gout

Gout is a disease caused by a build-up of uric acid in the joints, provoking an arthritis-like inflammatory response. More specifically, gout is thought to progress through three checkpoints: hyperuricaemia (HU; i.e. high serum urate levels), deposition of monosodium urate (MSU) crystals into joints, and then an inflammatory response to those crystals.Wikipedia

To date, more genetics research has focused on variants associated with high serum uric acid (SUA) levels, since it's a prerequisite to the development of gout. However, given that only a minority of individuals (~25%) with high SUA develop gout, there are also likely to be genetic and other factors involved in determining a predisposition to forming crystals as well as to the inflammatory response.

SNPs in several genes that have been reported to increase risk of gout or to decrease response to therapy include:

• ABCG2
  • rs2231142 causes ~10% of gout
  • rs72552713, risk allele A in SNPedia orientation [PMID 25646370]
  • rs3114018, risk allele C (in Chinese study)

• PRKG2 was associated with gout in a Taiwanese study [PMID 18678579]
  • rs7688672
  • rs6837293

• SLC2A9
  • rs16890979, risk allele C in the Amish and Framingham/Rotterdam studies [PMID 18834626]
  • rs1014290, risk allele A
  • rs6449213; the C allele appears to be protective against gout [PMID 18327257]
  • rs6855911 [PMID 18398472]
  • rs737267 [PMID 18398472]
  • rs12498742, minor G allele reduces risk for gout [PMID 23263486]
  • rs3775948, risk allele G [PMID 25646370]

• SLC17A3
  • rs1165205; the T allele appears to be protective against gout in the Framingham/Rotterdam study [PMID 18834626]. Note that 23andMe reports this as the A allele.

• GREM2
  • rs1934341; minor allele predicts better allopurinol response

• OAT10
  • rs117371763; minor allele reduces gout susceptibility

An intergenic SNP on chromosome 4, rs10489070, was associated with gout in both the Amish and Framingham/Rotterdam studies.