Table 2.
Overview of single nucleotide polymorphisms (SNPs) among the published top-findings of GWAS in ASD which may also be involved in ADHD
SNP/CNV | Chr | Position (bp) | Position | Gene functiona | Previous findings for ADHDa |
---|---|---|---|---|---|
Wang et al. [96] | |||||
6 SNPs | 5p14.1 | 25934678–26008578 | Between CDH9 and CDH10 | The genes encode type II classical cadherins from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell–cell adhesion. Both are expressed in brain. | The SNPs lie close to a linkage region for ADHD [44]. |
rs9395885, rs9349688 | 6p12.1 | 53853436–53870051 | Within intron of LRRC1 | Ecodes leucine-rich repeat-containing protein 1, a membrane protein of unknown function found in epithelia (and brain). | The SNPs are within a region of suggestive linkage to ADHD from a meta-analysis [101]. |
rs9384952 | 6p22.1 | 116066757 | Intergenic | The SNPs are within a region of suggestive linkage to ADHD from a meta-analysis [101]. | |
8 SNPs | 13q33.3 | 108823637–108881899 | Within 200 kb downstream of MYO16 | Encodes myosin heavy chain Myr 8, a gene highly expressed in brain. This cytoskeletal motor protein is involved in brain (especially cerebellum) development. | The SNPs lie close to suggestive linkage result for ADHD [9]. |
rs9932538 | 16p12.3 | 19116070 | Within intron of SYT17 | The product of this gene, synaptotagmin XVII (or B/K protein), is involved in vesicle transport and is highly expressed in brain, especially in the frontal and temporal lobes, the hippocampus, the hypothalamus, the amygdala, the substantia nigra, and the pituitary [21] | The SNP lies close to significant linkage result for ADHD [67]. |
Ma et al. [54]b | |||||
5 SNPs | 5p14 | 25934777–25970827 | Between CDH9 and CDH10 | The genes encode type II classical cadherins from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell–cell adhesion. Both are expressed in brain. See also above, same findings reported by Wang et al. [96]. | The SNPs lie close to a linkage region for ADHD [44]. |
rs2528795 | 7 | 73111430 | Within intron of ELN | This gene encodes the elastin isoform a precursor. The mature protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations result in severe anomalies of the aorta and skin, but the gene also falls into the deletion found in Williams Beuren syndrome. The latter is a contiguous gene syndrome with neurobehavioral features and mental retardation not easily accounted for by the disruption of the elastin gene alone. | The SNP lies within suggestive linkage region for ADHD from meta-analysis [101]. |
rs171415 | 20 | 58229934 | Within intron of hypothetical genes AX747739 and AK309218 | Hypothetical gene(s) of unknown function. | Less than 10 kb from one of the top-findings of GWAS for ADHD [63]. |
ADHD attention-deficit/hyperactivity disorder, ASD autism spectrum disorders, CNV copy number variation, SNP single nucleotide polymorphism
aWhere not indicated otherwise, the information is derived from the UCSC Browser, NCBI’s OMIM, Gene and Unigene databases, and the Sullivan Lab Evidence Project website (location of SNP expanded by ±5 Mb for genome-wide linkage scans, ±5 kb for GWAS, microarray and CNV studies, and ±50 kb for signposts)
bAnalysis was limited to SNPs showing p-values of 10−4 or smaller in the combined analysis of discovery and replication dataset