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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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We aimed to evaluate the prevalence of familial hypercholesterolaemia (FH) in a subjectwith 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 higherwere selected from the Namwon and Dong-gu Studies. We used next generation sequencing(NGS) to detect mutations in low-density lipoprotein receptors (LDLR), apolipoproteinB (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 previouslyreported. 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 insertionswere 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 suggestthat given the low prevalence of FH mutations in subjects with high total cholesterollevels, NGS-based testing for a population-based approach to FH detection may notbe cost-effective.
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참고문헌 (32)
참고문헌 신청
Marks D / 2003 / A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia / Atherosclerosis 168:1~14
Brown MS / 1986 / A receptor-mediated pathway for cholesterol homeostasis / Science 232:34~47
Rader DJ / 2003 / Monogenic hypercholesterolemia: new insights in pathogenesis and treatment / J Clin Invest 111:1795~1803
Scriver CR / 2001 / The metabolic and molecular bases of inherited disease / Mc-Graw-Hill
Leigh SE / 2008 / Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database / Ann Hum Genet 72:485~498
Brown MS / 1986 / A receptor-mediated pathway for cholesterol homeostasis / Science 232:34~47
Rader DJ / 2003 / Monogenic hypercholesterolemia: new insights in pathogenesis and treatment / J Clin Invest 111:1795~1803
Scriver CR / 2001 / The metabolic and molecular bases of inherited disease / Mc-Graw-Hill
Leigh SE / 2008 / Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database / Ann Hum Genet 72:485~498
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