Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Chan Joo LeeYunbeom LeeSungha ParkSeok-Min KangYangsoo JangJi Hyun LeeSang-Hak Lee

Published in: PloS one (2017)

Rare variants of APOB or PCSK9 were identified in nine of the 22 study patients with extremely low LDL-C levels, whereas most of them had common variants of the two genes. The common novelty of variants suggested polymorphism of the two genes among them. Our results provide rare genetic information associated with this lipid phenotype in East Asian people.

Keyphrases

copy number
genome wide
dna methylation
low density lipoprotein
gene expression
genome wide identification
fatty acid