Table 1.
Vascular and valvular phenotypes: genetic loci with genome-wide significant association.
| Phenotype | Chromosome | Candidate gene | SNP | P-value | Study |
|---|---|---|---|---|---|
| Aortic valve | |||||
| Aortic valve calcium and stenosis | 6q25 | LPA | rs10455872 | 9×10−10 | [124] |
| Aorta | |||||
| Abdominal aneurysm | 1p13 | SORT1 | rs599839 | 7×10−14 | [44] |
| Abdominal aneurysm | 1q21 | IL6R | rs2228145 | 3×10−11 | [146] |
| Abdominal aneurysm | 9p21 | CDKN2A/CDKN2B | rs10757278 | 1×10−12 | [45] |
| Abdominal aneurysm | 9q33 | DAB2IP | rs7025486 | 5×10−10 | [41] |
| Abdominal aneurysm | 12q13 | LRP1 | rs1466535 | 5×10−10 | [147] |
| Abdominal aneurysm | 19p13 | LDLR | rs6511720 | 2×10−10 | [148] |
| Thoracic aneurysm and dissection | 15q21 | FBN1 | rs2118181 | 6×10−12 | [149] |
| Peripheral arterial disease | |||||
| Ankle-brachial index | 9p21 | CDKN2A/CDKN2B | rs10757269 | 3×10−9 | [39] |
| Vascular stiffness | |||||
| Pulse wave velocity | 13q34 | COL4A1 | rs3742207* | 5×10−8 | [36] |
| Pulse wave velocity | 14q32 | BCL11B | rs7152623 | 3×10−15 | [35] |
Because genetic associations implicate genetic variation in a region, the causal variant and the gene which it influences are often unknown. We indicate throughout this review the chromosomal region, the nearest candidate gene and the SNP in the reported studies demonstrating the strongest evidence of association (lowest p-value). P-values and references refer to the initial discovery study.
*
coding variant with r2 > 0.9 to index SNP in 1000 Genomes CEU.