Table 4.
LDL-C levels and weighted Polygenic Risk Score (wPRS) comparison among the carriers of CYP7A1, LRP6 and/or LDLRAP1 variants.
| Non-ADH Subjects * | ADH Probands ** | CYP7A1 Variant Carriers *** | LRP6 Variant Carriers # | LDLRAP1 Variant Carriers ## | CYP7A1 and LRP6 Variants Carriers ### | CYP7A1, LRP6 and LDLRAP1 Variants Carriers † | |
|---|---|---|---|---|---|---|---|
| N | 13 | 152 | 4 | 6 | 3 | 2 | 2 |
| Sex (% of women) | 53.8 | 60.4 | 25 | 33.3 | 66.7 | 100 | 50 |
| Age (years) | 50 ± 15 | 48 ± 18 | 66 ± 6 | 39 ± 9 | 54 ± 28 | 81–71 | 6366 |
| p-value vs. non-ADH subjects | 0.4897 | 0.0266 | 0.0520 | 0.3185 | |||
| p-value vs. ADH probands | 0.0094 | 0.0453 | 0.4945 | ||||
| LDL-C (mmol/L) | 3.4 ± 0.5 | 6.1 ± 1.5 | 5.5 ± 0.8 | 4.6 ± 1.3 | 4.7 ± 1.3 | 5.5–5.5 | 7.9–10.7 |
| p-value vs. non-ADH subjects | <0.0001 | 0.0053 | 0.0242 | 0.0693 | |||
| p-value vs. ADH probands | 0.2364 | 0.0088 | 0.0542 | ||||
| wPRS | 0.665 ± 0.165 | 0.700 ± 0.187 | 0.574 ± 0.326 | 0.655 ± 0.243 | 0.792 ± 0.193 | 0.731–0.831 | 0.831–0.902 |
| p-value vs. non-ADH subjects | 0.2024 | 0.3428 | 0.500 | 0.2091 | |||
| p-value vs. ADH probands | 0.2091 | 0.2548 | 0.2676 | ||||
* Normocholesterolemic and non-carriers of a rare variant in an ADH-causing genes. ** Non-carriers of a rare variant in LDLR, APOB, APOE, PCSK9, CYP7A1, LRP6, and LDLRAP1 genes. *** One p.(Ala13Val), one p.(Asp347Asn), and two p.(Pro398Ala) (Figure 1, Table 2). # Two p.(Tyr972Cys), two p.(Val1382Phe), one p.(Thr1479Ile), and one p.(Ser1612Phe) (Figure 1, Table 2). ## One p.(Ser202LeufsTer19) and two p.(Ser202His) (Figure 1, Table 2). ### Two p.(Pro398Ala) in CYP7A1 and p.(Val1382Phe) in LRP6 (Figure 1). † Two p.(Pro398Ala) in CYP7A1, p.(Val1382Phe) in LRP6, and p.(Ser202His) in LDLRAP1 (Figure 1).