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GWAS Study

Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.

Pott J, Gådin JR, Theusch E et al.

34590679 PubMed ID
GWAS Study Type
12721 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PJ
Pott J
GJ
Gådin JR
TE
Theusch E
KM
Kleber ME
DG
Delgado GE
KH
Kirsten H
HS
Hauck SM
BR
Burkhardt R
SH
Scharnagl H
KR
Krauss RM
LM
Loeffler M
MW
März W
TJ
Thiery J
SA
Silveira A
VH
Van't Hooft FM
SM
Scholz M
Chapter II

Abstract

Summary of the research findings

Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a key player in lipid metabolism, as it degrades low-density lipoprotein (LDL) receptors from hepatic cell membranes. So far, only variants of the PCSK9 gene locus were found to be associated with PCSK9 levels. Here we aimed to identify novel genetic loci that regulate PCSK9 levels and how they relate to other lipid traits. Additionally, we investigated to what extend the causal effect of PCSK9 on coronary artery disease (CAD) is mediated by low-density lipoprotein-cholesterol (LDL-C).

12,721 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

12721
Total Participants
GWAS
Study Type
Yes
Replicated
300 African American statin-free individuals
Replication Participants
European, African American or Afro-Caribbean
Ancestry
Sweden, U.S., Germany
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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