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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