Table 2.
Genes identified in genome-wide association studies as being associated with sporadic cSVD
| SNP | CHR | Nearest Gene | Phenotype | Population | References |
|---|---|---|---|---|---|
| rs7214628 | 17 | TRIM65* | WMH | Community, clinical stroke | 50, 52 |
| rs72848980 | 10 | NEURL1 | WMH | Community | 50, 52 |
| rs7894407 | 10 | PDCD11 | WMH | Community | 50, 52 |
| rs12357919 | 10 | SH3PXD2A | WMH, SVS | Community | 50, 52 |
| rs7909791 | 10 | SH3PXD2A | WMH | Community | 50, 52 |
| rs78857879 | 2 | EFEMP1* | WMH | Community, clinical stroke | 50, 52 |
| rs2984613 | 1 | PMF1-BGLAP | WMH, ICH, SVS | Community, clinical stroke | 50, 52, 65 |
| rs11679640 | 2 | HAAO | WMH | Community | 50, 52 |
| rs72934505 | 2 | NBEAL1 | WMH | Community, clinical stroke | 50, 52 |
| rs941898 | 14 | EVL | WMH | Community, clinical stroke | 50, 52 |
| rs962888 | 17 | C1QL1 | WMH | Community, clinical stroke | 50, 52 |
| rs9515201 | 13 | COL4A2* | WMH | Community, clinical stroke | 50, 52 |
| rs12445022 | 16 | ZCCHC14 | WMH, SVS | Stroke | 70 |
| rs12204590 | 6 | FOXF2* | WMH, SVS | Community, clinical stroke | 72, 74 |
| rs275350 | 6 | PLEKHG1* | WMH | Community, clinical stroke | 56 |
| rs13164785, rs67827860 | 5 | VCAN* | MD, FA, WMH | Community | 58 |
Abbreviations: SNP, single nucleotide polymorphism; CHR, chromosome.
*
Genetic loci that have been putatively linked to the various NVU domains and associated SVD dysfunction