Table 1.
GATA4 gene regulatory variants in ASD patients and controls
| Regulatory variants | Genotypes | Locationa | Controls (n = 336) | ASD (n = 332) | P value | Frequencies (gnoMAD) |
|---|---|---|---|---|---|---|
| g.31329C>T(rs1429952472) | CT | − 904 bp | 1 | 0 | – | Not found |
| g.31360 T>C(rs372004083) | TC | − 873 bp | 0 | 1 | – | 0.000287 |
| g.31415 T>C | TC | − 818 bp | 1 | 0 | – | – |
| g.31436G>A | GA | − 797 bp | 0 | 1 | – | – |
| g.31437C>A(rs769262495) | CA | − 796 bp | 0 | 2 | – | 0.000287 |
| g.31487C>G(rs1053351749) | CG | − 746 bp | 0 | 1 | – | 0.000064 |
| g.31806C>T(rs1204517110) | CT | − 427 bp | 1 | 0 | – | Not found |
| g.31856C>T(rs1385460518) | CT | − 377 bp | 0 | 1 | – | Not found |
| g.31892C>G(rs1204747694) | CG | − 341 bp | 1 | 0 | – | 0.000032 |
| g.31974G>C(rs560860578) | GC | − 259 bp | 1 | 0 | – | 0.003761 |
| g.31979_80InsG | –/G | − 256 bp | 5 | 1 | 0.104 | – |
| g.32051C>A | CA | − 182 bp | 1 | 0 | – | – |
aRegulatory variants are located upstream (–) to the transcription start site of GATA4 gene at 32233 of NG_008177.2