The frequency of single nucleotide polymorphisms and their association with uric acid concentration based on data from genome-wide association studies in the Korean population.

We aimed, first, to investigate the minor allele frequencies (MAFs) of single nucleotide polymorphisms (SNPs) associated with serum uric acid (SUA) level in the Korean population and compare these with data from other ethnic groups and, second, to investigate whether the SNPs are associated with altered SUA levels. We examined the frequencies of risk alleles, investigated the MAFs of 40 previously described SNPs associated with SUA level in the Korean population (a total of 1,957 subjects), and compared results with data for other ethnic groups. We also analyzed associations with SUA concentrations based on data from genome-wide association studies in the Korean population (a total of 402 rheumatoid arthritis subjects) and tested whether polymorphism of any of the 40 SNPs associated with SUA identified previously was associated with SUA levels. The MAFs of SNPs associated with SUA level in the Korean population were quite similar to those among Japanese, but not in populations of European descent. SNP rs12734001 (PPP1R12B) proved to have the most probable association with SUA concentrations (P_trend = 2.29 × 10(-9)). We also analyzed 13 SNPs shown previously by meta-analysis to be associated with SUA, and SNP rs3741414 (INHBC) was found to have probable association with SUA level observed in the present study (P_trend = 0.01). The pattern of variants controlling SUA levels in the Korean population is not similar to that in European population. SNP rs12734001 (PPP1R12B) is significantly associated with SUA level among Koreans.