Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China

Gene
Kuan-Rau Chiou, Min-Ji Charng

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. This study investigated FH patients carrying common mutations in Taiwan and compared them to FH southeastern Asians. Causal FH mutations were identified by exon-by-exon sequencing with/without multiplex ligation-dependent probe amplification among 208 Taiwanese with clinically diagnosed FH. Haplotype analyses among probands and family members were undertaken using TaqMan® Assays. Totally, LDLR mutations were found in 118 probands, consisting of 61 different loci, and APOB 10579C>T mutations in 12 probands. Three mutations (64delG, 1661C>T, and 2099A>G) were novel. LDLR 986G>A (13.1%), 1747C>T (10.8%), and APOB 10579C>T (9.2%) were common mutations with no differences in phenotypes. LDLR 1747C>T associated with one haplotype (CAAGCCCCATGG/(dTA)n-112nt); LDLR 986G>A with two. APOB 10579C>T associated with the same LDLR binding-domain pattern in Taiwanese and southeastern Asians. We concluded that LDLR 986G>A, 1747C>T and APOB 10579C>T are common mutations, with combined frequency of approximately 33%. The pr...Continue Reading

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Citations

Jun 19, 2013·Biochemical Genetics·Alyaa R Al-KhateebBin Alwi Zilfalil
Mar 8, 2016·Journal of Atherosclerosis and Thrombosis·Sang-Hak Lee
May 22, 2016·Journal of Clinical Lipidology·Kuan-Rau Chiou, Min-Ji Charng
Apr 8, 2015·Applied Biochemistry and Biotechnology·Liang-liang FanRong Xiang
Apr 15, 2016·Journal of Atherosclerosis and Thrombosis·Mengge Zhou, Dong Zhao
Sep 1, 2016·Journal of Clinical Lipidology·Lars H AndersenAndré R Miserez
Jun 14, 2018·ELife·Atif RahmanLior Pachter
Dec 10, 2016·Arteriosclerosis, Thrombosis, and Vascular Biology·Jian-Jun LiQian Dong
Jan 17, 2019·Current Opinion in Lipidology·Brian TomlinsonElaine Chow
Dec 29, 2018·Molecular Genetics & Genomic Medicine·Melody Lok-Yi ChanKathryn Choon-Beng Tan
Jul 31, 2021·American Journal of Preventive Cardiology·Candace L JacksonIftikhar J Kullo

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