Table 4.
Recent (2015-presently) neuroimaging genetic studies reporting associations between genes and genomic loci associated with reading and mathematical (dis)abilities. The list is ordered based on evidence of association for genomic loci previously associated with SLD (that is, from replicated associations to newer evidence).
| Phenotype (Trait/Subphenotype) |
Gene (Associated Variant) |
Association Outcome | Neuroimaging Technique | Reference (Population) |
|---|---|---|---|---|
| Dyslexia (poor reading comprehension) |
DCDC2 READ1 element (RU2Short allele) |
Higher R hemisphere connectivity: Stronger functional connectivity between R insula/IFG and R SMG | fMRI (resting state) |
[189] (Hispanic- and African-Americans) |
| Dyslexia |
KIAA0319 (rs6935076) |
Positive correlation between the number of minor alleles and the degree of neural variability in primary auditory cortex (cases and controls) | MEG | [190] (US population) |
| Typically developing children without mathematical training |
ROBO1 (9 SNPs) |
GM pattern of the R parietal cortex (IPS and SPL) | sMRI | [191] (German population) |
| Dyslexia |
NRSN1 (3 SNPs) FOXP2 (6 SNPs) CNTNAP2 (7 SNPs) CMIP (6 SNPs) |
NRSN1: GM volume in R dorsal parieto-occipital cortex, L lateral occipital cortex, L temporo-occipital fusiform cortex (visual word form area)/WM volume in L post-central cortex FOXP2: GM volume in L medial superior frontal gyrus CNTNAP2: WM volume in L cerebral and cerebellar peduncles CMIP: WM volume in R + L portions of cerebellum |
sMRI | [192] (German population) |
| Dyslexia + Dyscalculia | 15q11.2(BP1-BP2) (deletion CNV) | Smaller L fusiform gyrus (less GM) and less WM in R cerebellum, R paracentral lobule and L STL Decreased L fusiform and L angular gyri activation |
sMRI fMRI |
[44] (Icelandic population) |
| Reading comprehension scores |
CEP63 (rs7619451) |
Increased WM volume in R + L hemisphere (temporoparietal region) of healthy individuals | sMRI | [146] (Swedish population) |
| Typically developing individuals |
NCAN (rs1064395) |
Increased WM volume in R + L temporoparietal and L inferior frontal brain regions (young adults) Increased GM volume in R + L cingulate, R superior frontal and R inferior parietal regions (infants) |
sMRI |
[69] (Finnish and Swedish population) |
| Typically developing individuals (reading ability) Brain activity (in 6 ROIs)—Typically developing children (phonological skills, reading competence) |
BDNF (rs6265 or p.V66M) |
Greater activation in reading- related regions (fusiform gyrus, L IFG, L STG) and greater activation in the hippocampus Increased brain activity in ROI 2 (bilateral hippocampus/parahippocampal gyrus/fusiform gyrus/cerebellum) and ROI 3 (L middle frontal gyrus/IFG/thalamus) |
fMRI fMRI |
[99] (US population—86.4% of Caucasian origin) [100] (US population—86.2% of Caucasian origin, or which 86.2% overlap with samples from [99]) |
| Typically developing children and young adults (RAN) | rs1555839 (30kb upstream of RNLS) |
Decreased cortical volume in the R IPL | sMRI | [110] |
CNV: copy number variant, R: right, L: left, WM: white matter, GM: grey matter, fMRI: functional MRI, sMRI: structural MRI, STL: superior temporal lobe, SPL: superior parietal lobe; IPL: inferior parietal lobe, IPS: intraparietal sulcus, IFG: inferior frontal gyrus, MFG: middle frontal gyrus, STG: superior temporal gyrus, SMG: supramarginal gyri, READ1: regulatory element associated with dyslexia 1, ROI: region of interest, RAN: rapid automatized naming, MEG: magnetoencephalography.