Table 1:
Proposed DNA methylation loci associated with the pathogenesis of ASD. Set A involves differentially methylated loci at birth; Set B at time of ASD diagnosis; and Set C involving OXTR promoter region.
| Study | Nearest Gene | Chromosome | CpG Loci ID | Position |
|---|---|---|---|---|
| A. Hannon et al (2018) - Dried blood spots - N=1263 - Infants at birth, who developed ASD |
RALY | 20 | cg12699865 | 32583031 |
| 16 | cg03697766 | 54848022 | ||
| UNC84A | 7 | cg25203085 | 887678 | |
| 5 | cg20712043 | 16392700 | ||
| TG | 8 | cg04918350 | 134124199 | |
| 6 | cg21986027 | 169238138 | ||
| TRIM2 | 4 | cg14001992 | 154073813 | |
| RD3 | 1 | cg00692367 | 154073813 | |
| 1 | cg16254267 | 1073529 | ||
| C2orf85 | 2 | cg03270969 | 242813189 | |
| LHCGR | 2 | cg06995408 | 48977089 | |
| PAG1 | 8 | cg09973676 | 82006417 | |
| ZCCHC24 | 10 | cg25485956 | 81146099 | |
| 14 | cg23256480 | 93252030 | ||
| KLF8 | X | cg22829182 | 56258808 | |
| CCDC147 | 10 | cg02803139 | 106113391 | |
| LOC100128573 | 19 | cg03260991 | 7539710 | |
| 10 | cg04089434 | 94516971 | ||
| KDR | 4 | cg02723107 | 55987799 | |
| KCNJ10 | 1 | cg20064848 | 160037877 | |
| B. Andrews et al (2018) - Blood - N=1654 - Children/adolescents with ASD and controls |
CENPM | 22 | cg21151899 | 42337657 |
| FENDRR | 16 | cg03731974 | 86531598 | |
| SNRNP200 | 2 | cg09962502 | 96971189 | |
| PGLYRP4 | 1 | cg01798266 | 153347938 | |
| EZH1 | 17 | cg01716316 | 40897182 | |
| DIO3 | 14 | cg16234726 | 101632839 | |
| CCDC181 | 1 | cg09671955 | 169460734 | |
| C. Gregory et al (2009) - Blood (PBMC) - N=40 - ASD |
OXTR | 3 | CpG-924, Intron 1, MT2 | 8769047* |
| 8769121* | ||||
| 8769146* |
* =
from Genome Reference Consortium Human Build 38 (hg38). All other position numbers from hg19.