Zhang D-W, Garuti R, Tang W-J, Cohen JC, Hobbs HH. Structural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptor. Proc Natl Acad Sci USA. 2008;105(35):13045–50.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sabatine MS, Giugliano RP, Wiviott SD, Raal FJ, Blom DJ, Robinson J, et al. Efficacy and safety of evolocumab in reducing lipids and cardiovascular events. N Engl J Med. 2015;372(16):1500–9.

Article  CAS  PubMed  Google Scholar 

Cannon CP, Cariou B, Blom D, McKenney JM, Lorenzato C, Pordy R, et al. Efficacy and safety of alirocumab in high cardiovascular risk patients with inadequately controlled hypercholesterolaemia on maximally tolerated doses of statins: the ODYSSEY COMBO II randomized controlled trial. Eur Heart J. 2015;36(19):1186–94.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lamb YN. Inclisiran: first approval. Drugs. 2021;81(3):389–95.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jeong HJ, Lee H-S, Kim K-S, Kim Y-K, Yoon D, Park SW. Sterol-dependent regulation of proprotein convertase subtilisin/kexin type 9 expression by sterol-regulatory element binding protein-2. J Lipid Res. 2008;49(2):399–409.

Article  CAS  PubMed  Google Scholar 

Jia F, Fei S-F, Tong D-B, Xue C, Li J-J. Sex difference in circulating PCSK9 and its clinical implications. Front Pharmacol. 2022;13: 953845.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kheirkhah A, Lamina C, Kollerits B, Schachtl-Riess JF, Schultheiss UT, Forer L, et al. PCSK9 and cardiovascular disease in individuals with moderately decreased kidney function. Clin J Am Soc Nephrol. 2022;17(6):809–18.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, et al. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biol. 2022;23(1):268.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang H, Plutzky J, Shubina M, Turchin A. Drivers of the sex disparity in statin therapy in patients with coronary artery disease: a cohort study. PLoS ONE. 2016;11(5): e0155228.

Article  PubMed  PubMed Central  Google Scholar 

Mauvais-Jarvis F, Berthold HK, Campesi I, Carrero J-J, Dakal S, Franconi F, et al. Sex- and gender-based pharmacological response to drugs. Pharmacol Rev. 2021;73(2):730–62.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Theusch E, Medina MW, Rotter JI, Krauss RM. Ancestry and other genetic associations with plasma PCSK9 response to simvastatin. Pharmacogenet Genomics. 2014;24(10):492–500.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pott J, Gådin JR, Theusch E, Kleber ME, Delgado GE, Kirsten H, et al. Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2. Hum Mol Genet. 2022;31(6):999–1011.

Article  CAS  PubMed  Google Scholar 

Scholz M, Henger S, Beutner F, Teren A, Baber R, Willenberg A, et al. Cohort profile: the leipzig research center for civilization diseases-heart study (LIFE-Heart). Int J Epidemiol. 2020;49:1439.

Article  PubMed  Google Scholar 

Engel C, Wirkner K, Zeynalova S, Baber R, Binder H, Ceglarek U, et al. Cohort profile: the LIFE-adult-study. Int J Epidemiol. 2022;52:e66.

Article  PubMed Central  Google Scholar 

Winkelmann BR, März W, Boehm BO, Zotz R, Hager J, Hellstern P, et al. Rationale and design of the LURIC study—a resource for functional genomics, pharmacogenomics and long-term prognosis of cardiovascular disease. Pharmacogenomics. 2001;2(1 Suppl 1):S1-73.

Article  CAS  PubMed  Google Scholar 

Magnusson PKE, Almqvist C, Rahman I, Ganna A, Viktorin A, Walum H, et al. The Swedish Twin Registry: establishment of a biobank and other recent developments. Twin Res Hum Genet. 2013;16(1):317–29.

Article  PubMed  Google Scholar 

Holle R, Happich M, Löwel H, Wichmann HE. KORA—a research platform for population based health research. Gesundheitswesen. 2005;67(Suppl 1):S19-25.

Article  PubMed  Google Scholar 

Eckardt K-U, Bärthlein B, Baid-Agrawal S, Beck A, Busch M, Eitner F, et al. The German Chronic Kidney Disease (GCKD) study: design and methods. Nephrol Dial Transplant. 2012;27(4):1454–60.

Article  CAS  PubMed  Google Scholar 

Kheirkhah A, Schachtl-Riess JF, Lamina C, Di Maio S, Koller A, Schönherr S, et al. Meta-GWAS on PCSK9 concentrations reveals associations of novel loci outside the PCSK9 locus in white populations. Atherosclerosis. 2023;386: 117384.

Article  CAS  PubMed  Google Scholar 

Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, et al. A global reference for human genetic variation. Nature. 2015;526(7571):68–74.

Article  PubMed  Google Scholar 

McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016;48(10):1279–83.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience. 2015;4:7.

Article  PubMed  PubMed Central  Google Scholar 

Mbatchou J, Barnard L, Backman J, Marcketta A, Kosmicki JA, Ziyatdinov A, et al. Computationally efficient whole-genome regression for quantitative and binary traits. Nat Genet. 2021;53(7):1097–103.

Article  CAS  PubMed  Google Scholar 

Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet. 2011;88(1):76–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yang J, Zaitlen NA, Goddard ME, Visscher PM, Price AL. Advantages and pitfalls in the application of mixed-model association methods. Nat Genet. 2014;46(2):100–6.

Article  PubMed  PubMed Central  Google Scholar 

Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Mägi R, et al. Quality control and conduct of genome-wide association meta-analyses. Nat Protoc. 2014;9(5):1192–212.

Article  PubMed  PubMed Central  Google Scholar 

Zerbino DR, Achuthan P, Akanni W, Amode MR, Barrell D, Bhai J, et al. Ensembl 2018. Nucleic Acids Res. 2018;46(D1):D754–61.

Article  CAS  PubMed  Google Scholar 

Battle A, Brown CD, Engelhardt BE, Montgomery SB. Genetic effects on gene expression across human tissues. Nature. 2017;550(7675):204–13.

Article  PubMed  Google Scholar 

Joehanes R, Zhang X, Huan T, Yao C, Ying S-X, Nguyen QT, et al. Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies. Genome Biol. 2017;18(1):16.

Article  PubMed  PubMed Central  Google Scholar 

Kirsten H, Al-Hasani H, Holdt L, Gross A, Beutner F, Krohn K, et al. Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci†. Hum Mol Genet. 2015;24(16):4746–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Westra H-J, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet. 2013;45(10):1238–43.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Xia K, Shabalin AA, Huang S, Madar V, Zhou Y-H, Wang W, et al. seeQTL: a searchable database for human eQTLs. Bioinformatics. 2012;28(3):451–2.

Article  CAS  PubMed  Google Scholar 

Buniello A, MacArthur JAL, Cerezo M, Harris LW, Hayhurst J, Malangone C, et al. The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Res. 2019;47(D1):D1005–12.

Article  CAS  PubMed  Google Scholar 

Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47(D1):D886–94.

Article  CAS  PubMed  Google Scholar 

Yu G, Wang L-G, Yan G-R, He Q-Y. DOSE: an R/Bioconductor package for disease ontology semantic and enrichment analysis. Bioinformatics. 2015;31(4):608–9.

Article  CAS  PubMed