Asset Details
Do you wish to reserve the book?
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia
Do you wish to request the book?
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia
2021
Overview
Familial hypercholesterolemia (FH) is an autosomal dominant monogenic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) and an increased risk of premature coronary artery disease (CAD). Recently, it has been shown that a high polygenic risk score (PRS) could be an independent risk factor for CAD in FH patients of European ancestry. However, it is uncertain whether PRS is also useful for risk stratification of FH patients in East Asia. We recruited and genotyped clinically diagnosed FH (CDFH) patients from the Kanazawa University Mendelian Disease FH registry and controls from the Shikamachi Health Improvement Practice genome cohort in Japan. We calculated PRS from 3.6 million variants of each participant (imputed from the 1000 Genome phase 3 Asian dataset) for LDL-C (PRS
) using a genome-wide association study summary statistic from the BioBank Japan Project. We assessed the association of PRS
with LDL-C and CAD among and within monogenic FH, mutation negative CDFH, and controls. We tested a total of 1223 participants (376 FH patients, including 173 with monogenic FH and 203 with mutation negative CDFH, and 847 controls) for the analyses. PRS
was significantly higher in mutation negative CDFH patients than in controls (p = 3.1 × 10
). PRS
was also significantly linked to LDL-C in controls (p trend = 3.6 × 10
) but not in FH patients. Moreover, we could not detect any association between PRS
and CAD in any of the groups. In conclusion, mutation negative CDFH patients demonstrated significantly higher PRS
than controls. However, PRS
may have little additional effect on LDL-C and CAD among FH patients.
Publisher
Nature Publishing Group
Subject
/ Coronary Artery Disease - blood
/ Coronary Artery Disease - etiology
/ Coronary Artery Disease - genetics
/ Coronary Artery Disease - pathology
/ Female
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Humans
/ Hyperlipoproteinemia Type II - blood
/ Hyperlipoproteinemia Type II - complications
/ Hyperlipoproteinemia Type II - genetics
/ Hyperlipoproteinemia Type II - pathology
/ Male
/ Multifactorial Inheritance - genetics
/ Mutation
/ Polymorphism, Single Nucleotide - genetics
/ Statins
