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Insights from population-based analyses of plasma lipids across the allele frequency spectrum

Peloso, Gina M, Natarajan, Pradeep·2018·Current Opinion in Genetics & Development
DOI 10.1016/j.gde.2018.01.003PMC PMC6087690
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  • Human genome-wide association studies have identified more than 250 loci associated with blood lipid levels.

    “Human genome-wide association studies (GWAS) have also identified >250 loci associated with blood lipid levels[9–11].”

    From Genome-scale CRISPR screening for modifiers of cellular LDL uptake (2021) · cites this paper as [11]

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Research works printed but not linked: 33

  1. Mozaffarian, 2016, Heart disease and stroke statistics—2016 update: a report from the American Heart Association, Circulation, 133, e38
  2. Kathiresan, 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study, BMC Med Genet, 8, S17, 10.1186/1471-2350-8-S1-S17 · DOI
  3. Emerging Risk Factors Consortium, 2009, Major lipids, apolipoproteins, and risk of vascular disease, JAMA, 302, 1993, 10.1001/jama.2009.1619 · DOI · Paper page
  4. Stone, 2014, 2013 ACC/AHA guideline on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk in adults: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines, Circulation, 129, S1, 10.1161/01.cir.0000437738.63853.7a · DOI · Paper page
  5. Peloso, 2014, Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks, Am J Hum Genet, 94, 223, 10.1016/j.ajhg.2014.01.009 · DOI
  6. Surakka, 2015, The impact of low-frequency and rare variants on lipid levels, Nat Genet, 47, 589, 10.1038/ng.3300 · DOI · Paper page
  7. Global Lipids Genetics Consortium, 2013, Discovery and refinement of loci associated with lipid levels, Nat Genet, 45, 1274, 10.1038/ng.2797 · DOI
  8. Brown, 1974, Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man, Science, 185, 61, 10.1126/science.185.4145.61 · DOI
  9. Brown, 1974, Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity, Proc Natl Acad Sci U S A, 71, 788, 10.1073/pnas.71.3.788 · DOI
  10. Abifadel, 2003, Mutations in PCSK9 cause autosomal dominant hypercholesterolemia, Nat Genet, 34, 154, 10.1038/ng1161 · DOI · Paper page
  11. Liu, 2017, Exome-wide association study of plasma lipids in >300,000 individuals, Nat Genet, 10.1038/ng.3977 · DOI · Paper page
  12. Kathiresan, 2008, Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans, Nat Genet, 40, 189, 10.1038/ng.75 · DOI · Paper page
  13. Teslovich, 2010, Biological, clinical and population relevance of 95 loci for blood lipids, Nature, 466, 707, 10.1038/nature09270 · DOI · Paper page
  14. Asselbergs, 2012, Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci, Am J Hum Genet, 91, 823, 10.1016/j.ajhg.2012.08.032 · DOI
  15. Albrechtsen, 2013, Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes, Diabetologia, 56, 298, 10.1007/s00125-012-2756-1 · DOI
  16. Peloso, 2014, Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks, Am J Hum Genet, 94, 223, 10.1016/j.ajhg.2014.01.009 · DOI
  17. Tang, 2015, Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese, Nat Commun, 6, 10206, 10.1038/ncomms10206 · DOI
  18. Voight, 2012, Plasma HDL cholesterol and risk of myocardial infarction: a Mendelian randomisation study, Lancet, 380, 572, 10.1016/S0140-6736(12)60312-2 · DOI · Paper page
  19. Do, 2013, Common variants associated with plasma triglycerides and risk for coronary artery disease, Nat Genet, 45, 1345, 10.1038/ng.2795 · DOI · Paper page
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  21. Musunuru, 2012, Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project, PLoS ONE, 7, e36473, 10.1371/journal.pone.0036473 · DOI
  22. Fernandez-Rhodes, 2017, Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) study reveals evidence for multiple signals at established loci, Hum Genet, 136, 771, 10.1007/s00439-017-1787-6 · DOI
  23. Bien, 2017, Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium, Diabetologia, 60, 2384, 10.1007/s00125-017-4405-1 · DOI
  24. Wang, 2017, Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA), Hum Genet, 136, 715, 10.1007/s00439-017-1782-y · DOI
  25. Lu, 2017, Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease, Nat Genet, 10.1038/ng.3978 · DOI
  26. Zubair, 2016, Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci, Hum Mol Genet, 25, 5500, 10.1093/hmg/ddw358 · DOI
  27. Cohen, 2006, Sequence variations in PCSK9, low LDL, and protection against coronary heart disease, N Engl J Med, 354, 1264, 10.1056/NEJMoa054013 · DOI · Paper page
  28. Dewey, 2016, Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study, Science, 354, 10.1126/science.aaf6814 · DOI
  29. Coram, 2013, Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations, Am J Hum Genet, 92, 904, 10.1016/j.ajhg.2013.04.025 · DOI
  30. Elbers, 2012, Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations, PLoS ONE, 7, e50198, 10.1371/journal.pone.0050198 · DOI
  31. Natarajan, 2015, Association of APOC3 loss-of-function mutations with plasma lipids and subclinical atherosclerosis: the multi-ethnic BioImage study, J Am Coll Cardiol, 66, 2053, 10.1016/j.jacc.2015.08.866 · DOI
  32. Nomura, 2017, Protein-truncating variants at the cholesteryl ester transfer protein gene and risk for coronary heart disease, Circ Res, 121, 81, 10.1161/CIRCRESAHA.117.311145 · DOI
  33. Millwood, 2017, Association of CETP gene variants with risk for vascular and nonvascular diseases among Chinese adults, JAMA Cardiol

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Metadata

Authors
Peloso, G. M., & Natarajan, P.
Venue
Current Opinion in Genetics & Development
Publisher
Elsevier BV
Published
2018-06
Volume
50
Pages
1-6
ISSN
0959-437X
DOI
10.1016/j.gde.2018.01.003
PMC
PMC6087690
Cited by
10
References
16
Language
en
Licence
Funders
  • National Heart, Lung, and Blood Institute of the National Institutes of Health
  • American Heart Association

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