Table 2.
Previously identified ASD candidate genes located in rHH
| Pop. | No. genes identified in rHH regions | No. rHH genes previously implicated in ASD | ASD candidate genes located in rHH regions |
|---|---|---|---|
| Discovery stage 1 | |||
| C2 | 243 | 7 | BTN2A1, CSMD3, FNTA, FOXP2, GABRA2, GABRG1, GBE1 |
| C3 | 341 | 12 | ALAS1, FBXO33, GBE1, IMMP2L, LRFN5, LRRN3, NRXN1, PRCP, PTGS2, REEP3, ROBO1, SLC4A10 |
| C4 | 79 | – | – |
| C5 | 417 | 5 | ACO2, FOXP2, GRIK2, HERC2, TSPAN12 |
| C6 | 372 | 11 | BTN2A1, DOCK4, GBE1, GRIK2, GRM8, IMMP2L, LRFN5, LRRN3, ROBO1, SLC4A10, WDR75 |
| Replication stage 2 | |||
| C3 | 529 | 8 | ALAS1, FOXP2, GBE1, GRIK2, GRM8, IMMP2L, SLC4A10, STOM |
| C4 | 70 | 1 | CSMD3 |
| C5 | 731 | 9 | ACO2, CSMD3, FBXO33, GABRG1, GRM8, NAGLU, PCDH10, SEPHS2, SLC6A4 |
| C6 | 46 | – | – |
A number of genes that have previously been implicated in ASD were found to be located in rHH regions in both the discovery and replication HH mapping studies. In the discovery analysis, 25 previously reported ASD candidate genes occurred in rHH regions. Nine ASD candidate genes were located in rHH in more than one population group and are shown in bold. Another 16 ASD candidates were located in rHH in a single population group and may represent population-specific susceptibility genes. We also found that 16 previously implicated ASD genes were located in rHH regions in the replication study. Two ASD candidate genes were located in rHH in more than one population group and 14 ASD genes were population-specific. Ten ASD candidate genes (ALAS1, CSMD3, FOXP2, GABRG1, GBE1, GRM8, FBXO33, IMMP2L, SLC4A10 and ACO2) occurred in rHH regions in both the discovery and replication HH mapping analyses