Figure 2.

Genomic structure of ALPK1 with nine linked loci and mRNA expression in gout aboriginal cohort (A) Exons are indicated by black boxes. Most significant three loci are indicated by blue text and alleles in red text. SNP rs9994944 is located in intron 7-8, followed by four nonsynonymous variants in exon 11, two synonymous variants in exon 13 and exon 14 located within alpha-kinase domain, and rs231253 and rs960583 located in three prime untranslated region. SNP rs11726117 [C], rs231247 [G] and rs231253 [G] have most significant P values from association study. Therefore, three SNPs were entered into real-time PCR validation. (B) Real-time PCR result of ALPK1 mRNA (Hs00228473_m1) on peripheral blood leukocytes of 62 gout aborigines demonstrated elevated ALPK1 mRNA (at-risk [CC+GG+GG] in cases compared with wild-types [TT+AA+CC] in controls) with post hoc compared Dunnett's test (OR = 1.83, 95% CI = 1.24–2.68; P = 8.21 × 10⁻⁴). Error bar indicates 95% confidence interval; PCR, polymerase chain reaction