Table 4.
Characteristics of genome‐wide association studies (GWAS) of diagnostic biomarkers in neurodevelopmental disorders
| Study | Country | Design | Disorder/s | Diagnosis | N probands | N controls | Biomarker(s) | Most adjusted effect size or p value |
|---|---|---|---|---|---|---|---|---|
| Demontis et al 32 | Multiple | Cross‐sectional | ADHD | Various (DSM/ICD) | 20,183 | 35,191 | Global SNP‐h2 rs11420276 rs1222063 rs9677504 rs4858241 rs28411770 rs4916723 rs5886709 rs74760947 rs11591402 rs1427829 rs281324 rs212178 |
SNP‐h2 = 0.216±0.014 All SNPs: p<5x10−8, OR range = 0.835‐0.928 and 1.079‐1.124 |
| Grove et al 33 | Multiple | Cross‐sectional | ASD | Various (DSM/ICD) | 18,381 | 27,969 | Global SNP‐h2 rs910805 rs10099100 rs201910565 rs71190156 rs111931861 |
SNP‐h2 = 0.118±0.010 All SNPs: p<5x10−8 |
| Niemi et al 34 | UK and Ireland | Cross‐sectional | Global developmental delay and autism | Various | 6,987 | 9,270 | Global SNP‐h2 No robust genome‐wide significant SNPs |
SNP‐h2 = 0.077±0.021 |
| Yu et al 35 | Multiple | Cross‐sectional | Tic disorder and Tourette's syndrome | Various | 4,819 | 9,488 | Global SNP‐h2 rs2504235 |
SNP‐h2 = 0.21±0.024 OR=1.16, p=2.1×10−8 |
| Nudel et al 36 | UK | Cross‐sectional | Speech/language impairment | Various | 278 | Not applicable (family based study) | No robust genome‐wide significant SNPs |
ADHD – attention‐deficit/hyperactivity disorder, ASD – autism spectrum disorder, SNP‐h2 – single nucleotide polymorphism‐based heritability, OR – odds ratio