Skip to main content

Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Table 1 Association analysis of three loci with 723 clinically-defined gout cases and 913 controls

From: Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese

Varianta Gene Chr. Positionb A1/A2 Genotypes Alleles frequency model
Cases Controls Frequencyc P value OR (95% CI)
A1/A1 A1/A2 A2/A2 A1/A1 A1/A2 A2/A2 Cases Controls
rs12236871 RFX3 9 3589117 A/G 166 354 172 259 412 239 0.504 0.489 0.390 1.06 (0.92–1.22)
rs179785d KCNQ1 11 2781519 A/G 196 277 102 204 379 143 0.418 0.458 0.043 0.85 (0.73–0.99)
rs200562977 KCNQ1 11 2781508–2781519 GGCGGGCAGGCA/− 575 142 6 726 173 14 0.107 0.110 0.744 0.96 (0.77–1.20)
rs179784 KCNQ1 11 2781824 A/G 288 331 104 304 474 135 0.373 0.407 0.044 0.86 (0.75–1.00)
rs11653176 BCAS3 17 59447369 C/T 227 346 148 218 476 219 0.445 0.501 1.66 × 10− 3 0.80 (0.70–0.92)
  1. Chr chromosome, OR odds ratio, CI confidence interval
  2. adbSNP rs number. The variants of KCNQ1 were genotyped by direct sequencing because of the presence of common deletion variant (rs200562977), whereas the variants of RFX3 and BCAS3 were correctly genotyped by the TaqMan method. In the analysis of rs179785 of KCNQ1, 148 cases and 187 controls with a heterozygous or homozygous deletion variant of rs200562977 were excluded because rs179785 is located at the last nucleotide, “A”, of rs200562977 (g.2781508_2781519del12GGCGGGCAGGCA). rs179784 of KCNQ1 shows strong linkage disequilibrium with rs179785 (D’ = 1.0 and r2 = 0.99)
  3. bThe positions of variants are based on NCBI human genome reference sequence Build 37
  4. c‘Frequency’ means the frequency of A2