Dataset Information

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

ABSTRACT: Background: The monogenic defect in familial hypercholesterolemia (FH) is detected in ?40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C). We sought to investigate whether the underlying monogenic or polygenic defect is associated with the response to rosuvastatin. METHODS:FH Individuals were tested for mutations in LDLR and APOB genes. A previously established LDL-C-specific polygenic risk score (PRS) was used to examine the possibility of polygenic hypercholesterolemia in mutation-negative patients. All of the patients received rosuvastatin and they were followed for 8 ± 2 months. A propensity score analysis was performed to evaluate the variables associated with the response to treatment. RESULTS:Monogenic subjects had higher mean (±SD) baseline LDL-C when compared to polygenic (7.6 ± 1.5 mmol/L vs. 6.2 ± 1.2 mmol/L; p < 0.001). Adjusted model showed a lower percentage of change in LDL-C after rosuvastatin treatment in monogenic patients vs. polygenic subjects (45.9% vs. 55.4%, p < 0.001). The probability of achieving LDL-C targets in monogenic FH was lower than in polygenic subjects (0.075 vs. 0.245, p = 0.004). Polygenic patients were more likely to achieve LDL-C goals, as compared to those monogenic (OR 3.28; 95% CI: 1.23-8.72). CONCLUSION:Our findings indicate an essentially higher responsiveness to rosuvastatin in FH patients with a polygenic cause, as compared to those carrying monogenic mutations.

SUBMITTER: Mickiewicz A

PROVIDER: S-EPMC7281142 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Mickiewicz Agnieszka A Futema Marta M Ćwiklinska Agnieszka A Kuchta Agnieszka A Jankowski Maciej M Kaszubowski Mariusz M Chmara Magdalena M Wasąg Bartosz B Fijałkowski Marcin M Jaguszewski Miłosz M Humphries Steve E SE Gruchała Marcin M

Life (Basel, Switzerland) 20200520 5

Background<b>:</b> The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C). We sought to investigate whether the underlying monogenic or polygenic defect is associated with the response to rosuvastatin.<h4>Methods</h4>FH Individuals were tested for mutations in LDLR and APOB genes<i>.</i> A previously established LDL-C-specific polygenic risk score (PRS) was used to ...[more]

PMID: 32443900

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Dataset Information

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Publications

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

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