Table 2.
Variants within the MYH6 gene promoter in patients with VSD
| Variations | Positiona | Genotypes | VSDb | Controlsb | Frequencyc | P value |
|---|---|---|---|---|---|---|
| g.4085G>C(rs1222539675) | − 915 | G>C | 1 | 0 | C = 0.000019 | – |
| g.4716G>A(rs377648095) | − 284 | G>A | 1 | 0 | A = 0.000011 | – |
| g.3285A>G(rs17091776) | − 1715 | A>G | 56 | 42 | G = 0.1048 | 0.221 |
| g.3557G>T(rs191392051) | − 1443 | G>T | 18 | 10 | T = 0.0038 | 0.165 |
| g.3726A>G(rs178648) | − 1244 | A>G | 7 | 2 | G = 0.0046 | 0.178 |
| g.3816C>A(rs138953808) | − 1184 | C>A | 8 | 9 | A = 0.0224 | 0.711 |
| g.3931del(rs377182175) | − 1069 | delC | 5 | 4 | delC = 0.0014 | 1.0 |
| g.4208A>G(rs9788443) | − 972 | A>G | 63 | 45 | G = 0.1767 | 0.116 |
| g.4387T>C(rs73587609) | − 613 | T>C | 62 | 46 | C = 0.0477 | 0.175 |
aVariants are located upstream (−) to the transcription start site at the position of 5,001 (+ 1) of the MYH6 gene (NG_023444.1)
bAllele frequency in groups. VSD, ventricular septal defect
cThe allele frequency was obtained from NCBI dbSNP database