Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts / 전남의대학술지
Chonnam Medical Journal
;
: 31-35, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-787260
ABSTRACT
We aimed to evaluate the prevalence of familial hypercholesterolaemia (FH) in a subject with hypercholesterolaemia from two population-based cohorts in South Korea. A total of 283 subjects with total cholesterol levels of 290 mg/dL (7.5 mmol/L) or higher were selected from the Namwon and Dong-gu Studies. We used next generation sequencing (NGS) to detect mutations in low-density lipoprotein receptors (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. We have confirmed 17 different mutations of the LDLR, APOB and PCSK9 in 23 subjects (8.1%). Eleven LDLR variants and one APOB variant have been previously reported. One LDLR and two PCSK9 rare variants were identified in the variants database, but not in the FH mutation database. Two novel LDLR variants were found, p.Leu680Val, and p.Thr734Phe. No LDLR, APOB or PCSK9 deletions nor insertions were found. When the subjects were restricted to 110 subjects with a total cholesterol ≥310 mg/dL, only 10 variants were found in the 10 subjects (9.1%). These results suggest that given the low prevalence of FH mutations in subjects with high total cholesterol levels, NGS-based testing for a population-based approach to FH detection may not be cost-effective.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Apolipoproteínas
/
Apolipoproteínas B
/
Colesterol
/
Prevalência
/
Estudos de Coortes
/
Receptores de Lipoproteínas
/
Pró-Proteína Convertases
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Hiperlipoproteinemia Tipo II
/
Coreia (Geográfico)
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo de prevalência
/
Estudo prognóstico
/
Fatores de risco
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Chonnam Medical Journal
Ano de publicação:
2018
Tipo de documento:
Artigo
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