Table 3 CpG-sites with genome-wide significant association with baseline aortic diameters (p < 10–6)
Aorta diameter | CpG | CHR | Position | Strand | Gene | UCSC_CpG_Islands_Name | β value | SE | p value | Cardiovascular function |
|---|---|---|---|---|---|---|---|---|---|---|
Aortic root | cg20074307 | 14 | 55,092,491 | F | SAMD4A |  | − 7.328698 | 1.42835322 | 7.81E−07 |  |
Ascending aorta | cg25190999 | 2 | 8,826,175 | F |  | chr2: 8825106–8826188 | − 7.3255838 | 1.41517063 | 6.33E−07 |  |
Aortic arch | cg13399952 | 9 | 132,652,889 | F | FNBP1 | chr9: 132652350–132652715 | 3.259245 | 0.59292635 | 1.39E−07 |  |
Proximal desc aorta | cg22162225 | 2 | 62,932,835 | R | EHBP1 | chr2: 62932595–62933353 | − 3.9168576 | 0.75191428 | 5.44E−07 |  |
Proximal desc aorta | cg04258811 | 15 | 84,976,641 | F |  | chr15: 84976070–84977044 | 2.73851672 | 0.47139499 | 3.02E−08 |  |
Aorta at diaphragm | cg11825706 | 1 | 201,552,873 | R |  |  | − 2.9891322 | 0.55625272 | 2.51E−07 |  |
Aorta at diaphragm | cg10045864 | 2 | 240,036,897 | F | HDAC4 | chr2: 240033147–240033453 | − 5.1346472 | 0.89881755 | 4.87E−08 | Cardiac hypertrophy and remodeling |
| Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Aortic aneurysm formation |
| Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Vascular dysfunction |
Aorta at diaphragm | cg18487516 | 6 | 3,849,542 | F | FAM50B | chr6: 3849271–3851048 | − 6.2306009 | 1.03917257 | 1.18E−08 |  |
Aorta at diaphragm | cg07829265 | 7 | 4,308,166 | F | SDK1 | chr7: 4303079–4305062 | − 3.9305036 | 0.62392327 | 2.47E−09 | Hypertension |
Aorta at diaphragm | cg05852760 | 7 | 23,508,224 | F | IGF2BP3 | chr7: 23508184–23509712 | − 3.0209111 | 0.52917492 | 4.97E−08 | Congenital heart disease |
Aorta at diaphragm | cg21375490 | 7 | 157,411,039 | F | PTPRN2 | chr7: 157409846–157410241 | − 4.9468079 | 0.95539399 | 6.29E−07 | Future myocardial infarction |
Aorta at diaphragm | cg07701530 | 10 | 22,911,629 | F | PIP4K2A |  | − 1.862081 | 0.29196299 | 1.64E−09 |  |
Aorta at diaphragm | cg26558664 | 11 | 18,230,491 | F | LOC494141 | chr11: 18230619–18230906 | − 1.1258168 | 0.18214965 | 4.58E−09 |  |
Aorta at diaphragm | cg04838249 | 12 | 34,500,640 | F |  | chr12: 34500550–34500814 | 3.92396387 | 0.65291884 | 1.10E−08 |  |
Aorta at diaphragm | cg05265042 | 14 | 102,030,999 | F | DIO3 | chr14: 102025989–102031567 | 2.89385142 | 0.54443147 | 3.31E−07 | Heart failure |
| Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Ventricular remodeling |
Aorta at diaphragm | cg09689342 | 16 | 5,077,985 | F | NAGPA |  | − 4.945524 | 0.75454621 | 6.42E−10 |  |
Aorta at diaphragm | cg02472906 | 16 | 87,938,341 | F | CA5A |  | − 5.0764489 | 0.84196725 | 9.96E−09 |  |
Aorta at diaphragm | cg06906965 | 19 | 58,450,175 | R |  | chr19: 58446336–58446800 | − 3.9017762 | 0.73555419 | 3.48E−07 |  |
Aorta at diaphragm | cg27614967 | 23 | 153,561,283 | F |  | chrX: 153561035–153561361 | − 5.0488276 | 0.87988599 | 4.30E−08 |  |
Aorta at bifurcation | cg24073777 | 1 | 10,832,698 | F | CASZ1 |  | − 9.4883778 | 1.54559989 | 5.68E−09 | Congenital heart disease |
| Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Hypertension |
Aorta at bifurcation | cg03158772 | 3 | 14,768,188 | F | C3orf20 |  | − 6.4625567 | 1.0591771 | 6.89E−09 |  |
Aorta at bifurcation | cg24324446 | 3 | 110,363,281 | F |  |  | − 4.3209801 | 0.79936682 | 2.16E−07 |  |
Aorta at bifurcation | cg05149776 | 5 | 140,870,164 | R | PCDHGA1 | chr5: 140871064–140872335 | − 5.8834917 | 1.0294066 | 4.81E−08 | Atherosclerosis |
Aorta at bifurcation | cg24588058 | 7 | 76,591,673 | F |  | chr7: 76588998–76589608 | − 4.9102623 | 0.94591786 | 5.91E−07 |  |
Aorta at bifurcation | cg19804570 | 18 | 44,618,587 | R | KATNAL2 |  | − 5.4528539 | 1.01978524 | 2.85E−07 |  |
Aorta at bifurcation | cg18075379 | 20 | 61,788,662 | F |  | chr20: 61788160–61788669 | − 5.1667712 | 0.95877471 | 2.34E−07 |  |
Aorta at bifurcation | cg14798310 | 22 | 24,234,197 | F | MIF-AS1 | chr22: 24236257–24237539 | − 4.8972641 | 0.88169036 | 1.06E−07 |  |
Aorta at bifurcation | cg27504079 | 23 | 50,653,533 | R | BMP15 |  | − 3.9887835 | 0.65665158 | 7.91E−09 |  |