Table 2.
Biological and clinical characteristics of the affected carriers of CYP7A1, LDLRAP1 and LRP6 variant.
| Gene | Variant | Sex | Age * | TC ** | LDL-C ** | HDL-C ** | TG ** | wPRS | Decile | Clinic | Family History |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
CYP7A1 (NM_000780) |
c.38C > T p.(Ala13Val) |
M | 59 | … | … | … | … | 0.571 | IV | … | … |
| c.1039G > A p.(Asp347Asn) |
F | 71 | 7.92 | 6.24 | … | 0.98 | 0.25 | I | … | … | |
| c.1192C > G p.(Pro398Ala) |
M | 71 | 7.52 | 5.69 | … | … | … | … | … | … | |
|
LDLRAP1 (NM_015627) |
c.603dupC p.(Ser202LeufsTer19) |
F | 37 | 7.75 | 5.56 | 1.37 | 1.81 | 0.752 | VII | … | … |
| c.604_605delTCinsCA p.(Ser202His) |
F | 39 | … | 5.44 | … | … | 0.622 | V | … | … | |
|
LRP6 (NM_002336) |
c.2915A > G p.(Tyr972Cys) |
M † | 40 | 6.35 | 4.70 | 1.21 | 0.89 | … | … | CAD | Yes Yes |
| M ‡ | 32 | 7.47 | 5.30 | 1.34 | 1.83 | 0.371 | II | No | |||
| c.4436C > T p.(Thr1479Ile) |
F | 48 | 8.15 | 5.57 | 2.12 | 1.01 | 0.581 | IV | No | Yes | |
| c.4835C > T p.(Ser1612Phe) |
M | 51 | 8.04 | 5.89 | 1.71 | 0.94 | 0.542 | III | CAD | Yes |
* Age in years at lipid measurement. ** Lipid values (mmol/L) without lipid-lowering therapy. † Father. ‡ Son. TC: total cholesterol; LDL-C: low-density lipoprotein cholesterol; HDL-C: high-density lipoprotein cholesterol; TGs: triglycerides; wPRS: weighted polygenic risk score.