- •A mutation in LDLR/APOB/PCSK9 is found in only ∼40% of patients with clinical familial hypercholesterolaemia (FH).
- •At least 80% of these no-mutation patients have a high LDL-C “SNP-Score”.
- •Atherosclerosis and CHD risk are lower in polygenic patients than in monogenic FH.
- •Monogenic FH requires more aggressive lipid lowering than polygenic hypercholesterolaemia.
- •This is a paradigm example of the use of genomic data to inform precision medicine.
2. Development of the LDL-C SNP-Score
|Score deciles||Mean (SD)||Min and max|
3. Can the LDL-C SNP score be improved?
4. Estimation of the proportion of FH/M-subjects likely to be polygenic by SNP-Score
5. Variants of unknown significance (VUS)
- Webb J.C.
- Patel D.D.
- Shoulders C.C.
- Knight B.L.
- Soutar A.K.
- Richards S.
- Aziz N.
- Bale S.
- et al.
6. Identifying new FH genes
7. Clinical utility of a diagnosis of monogenic FH vs polygenic hypercholesterolaemia
Conflicts of interest
Appendix A. Supplementary data
- FH score calculator v2
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