Table 3.
Genomic regions where the African-assigned LWK alleles confer ASD risk
| Region number | Start marker | End marker | Chromosome | Start | End | Size (Mb) | Genes | Known ASD gene(s) | SFARI score | Known neurodevelopmental disease gene(s) |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 10773 | 10905 | 2 | 153,362,927 | 155,354,991 | 1.99 | 6 | GALNT13 | 2 | – |
| 2 | 4074 | 4167 | 9 | 73,274,607 | 74,655,760 | 1.38 | 5 | – | – | – |
| 3 | 590 | 978 | 11 | 5,199,208 | 8,602,452 | 3.40 | 98 | APBB1 | 2 | DCHS1, EIF3F |
| 4 | 6177 | 6239 | 12 | 84,038,708 | 85,090,747 | 1.05 | – | – | – | – |
| 5 | 2236 | 2384 | 22 | 38,038,060 | 40,816,749 | 2.78 | 68 | ADSL, CACNA1I, CSNK1E, SGSM3, TNRC6B | 1; 2; 2; 2; 2 | PDGFB, PLA2G6, SOX10 |
| 6 | 2823 | 2998 | 14 | 54,334,781 | 57,025,840 | 2.69 | 23 | – | – | – |
| 7 | 298 | 320 | 16 | 3,747,204 | 4,045,272 | 0.30 | 4 | CREBBP | 1 | – |
| 8 | 8808 | 8816 | 1 | 142,685,709 | 142,705,564 | 0.02 | 1 | – | – | – |
| 9 | 8973 | 9185 | 9 | 138,862,766 | 141,112,375 | 2.25 | 104 | CACNA1B, EHMT1, GRIN1, PNPLA7 | 2; 1; 1; 2 | ABCA2, CACNA1B, INPP5E, MAN1B1, PMPCA |
| 10 | 3504 | 3686 | 8 | 32,045,867 | 35,209,816 | 3.16 | 10 | TTI2, UNC5D | S; 3 | – |
TDT using alleles derived from local admixture analysis encoding African (LWK) or European (TSI) ancestry identified regions of the genome in which the African-assigned LWK alleles were transmitted to affected offspring more frequently than the European-assigned TSI alleles (Bonferroni corrected p < 3.32 × 10−4). The top 10 regions with TDTae statistic (LRT) >65 are shown. For SFARI score, S denotes syndromic genes.