期刊
JOURNAL OF CLINICAL LIPIDOLOGY
卷 10, 期 6, 页码 1297-1302出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacl.2016.09.009
关键词
Familial defective apolipoprotein B-100; FDB; Familial hypercholesterolemia; FH; Hyperlipidemia; R3500Q; R3500 W; Population genetics; Lipid metabolism; APOB
资金
- National Institutes of Health
- Regeneron
Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant genetic disorder of lipid metabolism associated with hyperlipidemia and elevated risk for atherosclerosis. FDB is caused by mutations in APOB reducing the binding affinity between apolipoprotein B-100 and the low-density lipoprotein receptor. Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the R3500Q variant in APOB most commonly associated with FDB; in addition, the APOB R3500 W variant is known to make a significant contribution to familial hypercholesterolemia (FH) among East Asians. However, the elevation of plasma low-density lipoprotein cholesterol observed in FDB is frequently milder than that of FH due to mutations in LDLR, and FDB is subsequently underdiagnosed according to standard FH diagnostic criteria. (C) 2016 National Lipid Association. All rights reserved.
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