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) |
- Chr chromosome, OR odds ratio, CI confidence interval
- 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)
- bThe positions of variants are based on NCBI human genome reference sequence Build 37
- c‘Frequency’ means the frequency of A2