The genetic spectrum of familial hypercholesterolemia in the central south region of China

Release time:2017-03-30

Impact Factor:3.919

Affiliation of Author(s):The State Key Laboratory of Medical Genetics & School of Life Sciences, Central South University

Journal:Atherosclerosis

Key Words:APOB, Familial hypercholesterolemia, LDLR, Mutation spectrum, PCSK9

Abstract:BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is the most common and severe autosomal dominant lipid metabolism dysfunction, which causes xanthoma, atherosclerosis and coronary heart disease. Earlier studies showed that mutations in LDLR, APOB and PCSK9 cause FH. Although more than 75% of the population in Europe has been scrutinized for FH-causing mutations, the genetic diagnosis proportion among Chinese people remains very low (less than 0.5%). The aim of this study was to perform a survey and mutation detection among the Chinese population. METHODS: 219 FH patients from the centra

Co-author:Zhao S P, Xia K, Chen Y Q, Liu Y X, Jin J Y, Shi X Y, Li J J, Lin M J, Fan L L, Xiang R

Indexed by:Unit Twenty Basic Research

Discipline:生物学

Document Type:J

Volume:258

Page Number:84-88

ISSN No.:0021-9150

Translation or Not:no

Date of Publication:2017-03-01

Included Journals:SCI

Links to published journals:http://www.sciencedirect.com/science/article/pii/S002191501730059X