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GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study.

Abstract：

:Among the 146 patients enrolled in the Korean FH registry, 83 patients who had undergone appropriate LLT escalation and were followed-up for ≥ 6 months were analyzed for pathogenic variants (PVs). The achieved percentage of expected low-density lipoprotein-cholesterol (LDL-C) reduction (primary variable) and achievement rates of LDL-C < 70 mg/dL were assessed. The correlations between the treatment response and the characteristics of PVs, and the weighted 4 SNP-based score were evaluated. The primary variables were significantly lower in the PV-positive patients than in the PV-negative patients (p = 0.007). However, the type of PV did not significantly correlate with the primary variable. The achievement rates of LDL-C < 70 mg/dL was very low, regardless of the PV characteristics. Patients with a higher 4-SNP score showed a lower primary variable (R2 = 0.045, p = 0.048). Among evolocumab users, PV-negative patients or those with only defective PVs revealed higher primary variable, whereas patients with at least one null PV showed lower primary variables. The adjusted response of patients with FH to LLT showed significant associations with PV positivity and 4-SNP score. These results may be helpful in managing FH patients with diverse genetic backgrounds.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Kim H,Lee CJ,Pak H,Kim DI,Rhee MY,Lee BK,Ahn Y,Cho BR,Woo JT,Hur SH,Jeong JO,Lee JH,Lee SH

doi

10.1038/s41598-020-75901-0

subject

Has Abstract

pub_date

2020-11-09 00:00:00

pages

19336

issue

1

issn

2045-2322

pii

10.1038/s41598-020-75901-0

journal_volume

10

pub_type

杂志文章

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