English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background  Screening of variants, related to lipid metabolism in patients with extreme cholesterol levels, is a tool used to identify targets affecting cardiovascular outcomes. The aim of this study was to examine the prevalence and characteristics of rare and common variants of  APOB  and  PCSK9  in Korean patients with extremely low low-density lipoprotein-cholesterol (LDL-C) levels.    Methods  Among 13,545 participants enrolled in a cardiovascular genome cohort, 22 subjects, whose LDL-C levels without lipid-lowering agents were ≤1 percentile (48 mg/dL) of Korean population, were analyzed. Two target genes,  APOB  and  PCSK9 , were sequenced by targeted next-generation sequencing. Prediction of functional effects was conducted using SIFT, PolyPhen-2, and Mutation Taster, and matched against a public database of variants.    Results  Eight rare variants of the two candidate genes (five in  APOB  and three in  PCSK9 ) were found in nine subjects. Two subjects had more than two different rare variants of either gene (one subject in  APOB  and another subject in  APOB/PCSK9 ). Conversely, 12 common variants (nine in  APOB  and three in  PCSK9 ) were discovered in 21 subjects. Among all variants, six in  APOB  and three in  PCSK9  were novel. Several variants previously reported functional, including c.C277T (p.R93C) and c.G2009A (p.G670E) of  PCSK9 , were found in our population.    Conclusions  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.

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