Population-Based Resequencing of APOA1 in 10,330 Individuals: Spectrum of Genetic Variation, Phenotype, and Comparison with Extreme Phenotype Approach
Open accessAbstract
Rare genetic variants, identified by in-detail resequencing of loci, may contribute to complex traits. We used the apolipoprotein A-I gene (APOA1), a major high-density lipoprotein (HDL) gene, and population-based resequencing to determine the spectrum of genetic variants, the phenotypic characteristics of these variants, and how these results compared with results based on resequencing only the extremes of the apolipoprotein A-I (apoA-I) distribution. First, we resequenced APOA1 in 10,330 population-based participants in the Copenhagen City Heart Study. The spectrum and distribution of genetic variants was determined as a function of the number of individuals resequenced. Second, apoA-I and HDL cholesterol phenotypes were determined for nonsynonymous (NS) and synonymous (S) variants and were validated in the Copenhagen General Population Study (n = 45,239). Third, observed phenotypes were compared with those predicted using an extreme phenotype approach based on the apoA-I distribution. Our results are as follows: First, population-based resequencing of APOA1 identified 40 variants of which only 7 (18%) had minor allele frequencies >1%, and most were exceedingly rare. Second, 0.27% of individuals in the general population were heterozygous for NS variants which were associated with substantial reductions in apoA-I (up to 39 mg/dL) and/or HDL cholesterol (up to 0.9 mmol/L) and, surprisingly, 0.41% were heterozygous for variants predisposing to amyloidosis. NS variants associated with a hazard ratio of 1.72 (1.09-2.70) for myocardial infarction (MI), largely driven by A164S, a variant not associated with apoA-I or HDL cholesterol levels. Third, using the extreme apoA-I phenotype approach, NS variants correctly predicted the apoA-I phenotype observed in the population-based resequencing. However, using the extreme approach, between 79% (screening 0-1(st) percentile) and 21% (screening 0-20(th) percentile) of all variants were not identified; among these were variants previously associated with amyloidosis. Population-based resequencing of APOA1 identified a majority of rare NS variants associated with reduced apoA-1 and HDL cholesterol levels and/or predisposing to amyloidosis. In addition, NS variants associated with increased risk of MI.
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Italian studies found no evidence for an increased risk of atherosclerosis in heterozygous carriers of LCAT mutations.
“Italian studies found no evidence for an increased risk of atherosclerosis in heterozygous carriers of LCAT mutations [32–34].”
From HDL cholesterol: reappraisal of its clinical relevance (2017) · cites this paper as [34]
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Friedewald, W. T., Levy, R. I., & Fredrickson, D. S. (1972) · Clinical Chemistry · doi:10.1093/clinchem/18.6.499 · Cited by 32,423 · see citing works
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101 · see citing works
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336 · see citing works
Universal Definition of Myocardial Infarction
Thygesen, K. A., Alpert, J. S., White, H. D., TASK FORCE MEMBERS: Chairpersons: Kristian Thygesen (Denmark), J. S. A. (., Biomarker Group: Allan S. Jaffe, C. (., ECG Group: Bernard Chaitman, C.-O. (., Imaging Group: Richard Underwood, C. (., Intervention Group: Jean-Pierre Bassand, C.-O. (., Mendis, S., Implementation Group: Lars C. Wallentin Coordinator (Sweden), F. F.-A. (., et al. (2007) · Circulation · doi:10.1161/circulationaha.107.187397 · Cited by 4,422 · see citing works
Biological, clinical and population relevance of 95 loci for blood lipids
Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., et al. (2010) · Nature · doi:10.1038/nature09270 · Cited by 3,487 · see citing works
Task Force Members, Thygesen, K. A., Alpert, J. S., White, H. D., Biomarker Group, Jaffe, A. S., Apple, F. S., Galvani, M., Katus, H. A., Newby, L. K., et al. (2007) · European Heart Journal · doi:10.1093/eurheartj/ehm355 · Cited by 2,536 · see citing works
Uncovering the roles of rare variants in common disease through whole-genome sequencing
Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136 · see citing works
Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
Cohen, J. C., Kiss, R. S., Pertsemlidis, A., Marcel, Y. L., McPherson, R., & Hobbs, H. H. (2004) · Science · doi:10.1126/science.1099870 · Cited by 1,108 · see citing works
Genetically elevated C-reactive protein and ischemic vascular disease
Zacho, J., Tybjærg-Hansen, A., Jensen, J. S., Grande, P., Sillesen, H., & Nordestgaard, B. G. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0707402 · Cited by 839 · see citing works
Self-citationRomeo, S., Pennacchio, L. A., Fu, Y., Boerwinkle, E., Tybjaerg-Hansen, A., Hobbs, H. H., & Cohen, J. C. (2007) · Nature Genetics · doi:10.1038/ng1984 · Cited by 511 · see citing works
Self-citationFrikke-Schmidt, R. (2008) · JAMA · doi:10.1001/jama.299.21.2524 · Cited by 464 · see citing works
Self-citationRole of apoA-I, ABCA1, LCAT, and SR-BI in the biogenesis of HDL
Zannis, V. I., Chroni, A., & Krieger, M. (2006) · Journal of Molecular Medicine · doi:10.1007/s00109-005-0030-4 · Cited by 391 · see citing works
Cohen, J. C., Pertsemlidis, A., Fahmi, S., Esmail, S., Vega, G. L., Grundy, S. M., & Hobbs, H. H. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508483103 · Cited by 373 · see citing works
Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population
Frikke‐Schmidt, R., Nordestgaard, B. G., Jensen, G. B., & Tybjærg‐Hansen, A. (2004) · Journal of Clinical Investigation · doi:10.1172/jci20361 · Cited by 249 · see citing works
Self-citationFalk, R. H., & Dubrey, S. W. (2010) · Progress in Cardiovascular Diseases · doi:10.1016/j.pcad.2009.11.007 · Cited by 244 · see citing works
Deep resequencing reveals excess rare recent variants consistent with explosive population growth
Coventry, A., Bull–Otterson, L., Liu, X., Clark, A. G., Maxwell, T. J., Crosby, J. R., Hixson, J. E., Rea, T. J., Muzny, D. M., Lewis, L. R., et al. (2010) · Nature Communications · doi:10.1038/ncomms1130 · Cited by 221 · see citing works
Schnohr, P., Jensen, J., Scharling, H., & Nordestgaard, B. (2002) · European Heart Journal · doi:10.1053/euhj.2001.2842 · Cited by 209 · see citing works
Tybjærg‐Hansen, A., Steffensen, R., Meinertz, H., Schnohr, P., & Nordestgaard, B. G. (1998) · New England Journal of Medicine · doi:10.1056/nejm199805283382203 · Cited by 191 · see citing works
Self-citationThe Effects of Altered Apolipoprotein A-I Structure on Plasma HDL Concentration
Sorci‐Thomas, M. G., & Thomas, M. J. (2002) · Trends in Cardiovascular Medicine · doi:10.1016/s1050-1738(01)00163-3 · Cited by 189 · see citing works
Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.
Matsunaga, T., Hiasa, Y., Yanagi, H., Maeda, T., Hattori, N., Yamakawa, K., Yamanouchi, Y., Tanaka, I., Obara, T., & Hamaguchi, H. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.7.2793 · Cited by 122 · see citing works
Boes, E., Coassin, S., Kollerits, B., Heid, I. M., & Kronenberg, F. (2008) · Experimental Gerontology · doi:10.1016/j.exger.2008.11.003 · Cited by 121 · see citing works
Amyloidogenicity and Clinical Phenotype Associated with Five Novel Mutations in Apolipoprotein A-I
Rowczenio, D. M., Doǧan, A., Theis, J. D., Vrana, J. A., Lachmann, H. J., Wechalekar, A. D., Gilbertson, J. A., Hunt, T., Gibbs, S. D., Sattianayagam, P. T., et al. (2011) · American Journal Of Pathology · doi:10.1016/j.ajpath.2011.06.024 · Cited by 119 · see citing works
Utermann, G., Feussner, G., Franceschini, G., Haas, J., & Steinmetz, A. (1982) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)68392-4 · Cited by 118 · see citing works
The universal definition of myocardial infarction: a consensus document
Alpert, J. S., Thygesen, K. A., Jaffe, A. S., & White, H. D. (2008) · Heart · doi:10.1136/hrt.2008.151233 · Cited by 108 · see citing works
von Eckardstein, A., Funke, H., Walter, M., Altland, K., Benninghoven, A., & Assmann, G. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)38931-8 · Cited by 105 · see citing works
Rall, S. C., Weisgraber, K. H., Mahley, R. W., Ogawa, Y., Fielding, C. J., Utermann, G., Haas, J., Steinmetz, A., Menzel, H. J., & Assmann, G. (1984) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)90928-2 · Cited by 105 · see citing works
Haase, C. L., Tybjærg-Hansen, A., Grande, P., & Frikke-Schmidt, R. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0450 · Cited by 104 · see citing works
Self-citationSousa, M. M., Vital, C., Ostler, D., Fernandes, R., Pouget-Abadie, J., Carles, D., & Saraiva, M. J. (2000) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)65064-x · Cited by 97 · see citing works
von Eckardstein, A., Funke, H., Henke, A., Altland, K., Benninghoven, A., & Assmann, G. (1989) · Journal of Clinical Investigation · doi:10.1172/jci114355 · Cited by 94 · see citing works
Obici, L. P., Palladini, G. O., Giorgetti, S., Bellotti, V., Gregorini, G. A., Arbustini, E., Verga, L., Marciano, S., Donadei, S., Perfetti, V., et al. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.03.003 · Cited by 82 · see citing works
Ostertag revisited: The inherited systemic amyloidoses without neuropathy
Benson, M. D. (2005) · Amyloid · doi:10.1080/13506120500106925 · Cited by 73 · see citing works
Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I
Persey, M. R., Booth, D. R., Booth, S. E., van Zyl-Smit, R., Adams, B. K., Fattaar, A. B., Tennent, G. A., Hawkins, P. N., & Pepys, M. B. (1998) · Kidney International · doi:10.1046/j.1523-1755.1998.00770.x · Cited by 72 · see citing works
Menzel, H. J., Assmann, G., Rall, S. C., Weisgraber, K. H., & Mahley, R. W. (1984) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)43261-3 · Cited by 67 · see citing works
Miccoli, R., Bertolotto, A., Navalesi, R., Odoguardi, L., Boni, A., Weßling, J., Funke, H., Wiebusch, H., von Eckardstein, A., & Assmann, G. (1996) · Circulation · doi:10.1161/01.cir.94.7.1622 · Cited by 59 · see citing works
Genetic Etiology of Isolated Low HDL Syndrome
Kiss, R. S., Kavaslar, N., Okuhira, K., Freeman, M. W., Wälter, S., Milne, R. W., McPherson, R., & Marcel, Y. L. (2007) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.106.137646 · Cited by 58 · see citing works
The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster
Fullerton, S., Buchanan, A., Sonpar, V. A., Taylor, S. L., Smith, J. D., Carlson, C., Salomaa, V., Stengård, J., Boerwinkle, E., Clark, A., et al. (2004) · Human Genetics · doi:10.1007/s00439-004-1106-x · Cited by 56 · see citing works
Amarzguioui, M., Mucchiano, G. I., Häggqvist, B., Westermark, P., Kavlie, A., Sletten, K., & Prydz, H. (1998) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1997.8005 · Cited by 53 · see citing works
ApoA-IHelsinki(Lys107→0) Associated With Reduced HDL Cholesterol and LpA-I:A-II Deficiency
Tilly-Kiesi, M., Qiu-ping, Z., Ehnholm, S., Kahri, J., Lahdenperä, S., Ehnholm, C., & Taskinen, M. (1995) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.15.9.1294 · Cited by 48 · see citing works
Haase, C. L., Frikke‐Schmidt, R., Nordestgaard, B. G., Kateifides, A. K., Kardassis, D., Nielsen, L. B., Andersen, C. B., Køber, L., Johnsen, A., Grande, P., et al. (2011) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2011.02381.x · Cited by 38 · see citing works
Self-citationAlpert, J., Antman, E., Apple, F., Armstrong, P. W., Bassand, J., de Luna, A. D., Beller, G., Breithardt, G., Chaitman, B., Clemmensen, P., et al. (2000) · European Heart Journal · doi:10.1053/euhj.2000.2305 · Cited by 37 · see citing works
Recalde, D., Velez‐Carrasco, W., Civeira, F., Cenarro, A., Gómez‐Coronado, D., Ordovás, J. M., & Pocovı́, M. (2001) · Atherosclerosis · doi:10.1016/s0021-9150(00)00555-4 · Cited by 32 · see citing works
Zannis, V. I., Κούκος, Γ., Drosatos, K., Vezeridis, A. M., Zanni, E. E., Kypreos, K. E., & Chroni, A. (2008) · Annals of Medicine · doi:10.1080/07853890701687219 · Cited by 27 · see citing works
Keiichi, A., Sasaki, J., Matsunaga, A., Yoichi, T., Moriyama, K., Kazuko, H., & Kikuo, A. (1994) · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · doi:10.1016/0005-2760(94)90073-6 · Cited by 16 · see citing works
Tilly-Kiesi, M., Packard, C. J., Kahri, J., Ehnholm, C., Shepherd, J., & Taskinen, M. (1997) · Atherosclerosis · doi:10.1016/s0021-9150(96)05992-8 · Cited by 15 · see citing works
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Hopkins, P. N. (2013) · Physiological Reviews · doi:10.1152/physrev.00004.2012 · Cited by 456 · see citing works
Genetics of Coronary Artery Disease
McPherson, R., & Tybjærg‐Hansen, A. (2016) · Circulation Research · doi:10.1161/circresaha.115.306566 · Cited by 366 · see citing works
Self-citationHDL cholesterol: reappraisal of its clinical relevance
März, W., Kleber, M. E., Scharnagl, H., Speer, T., Zewinger, S., Ritsch, A., Parhofer, K. G., von Eckardstein, A., Landmesser, U., & Laufs, U. (2017) · Clinical Research in Cardiology · doi:10.1007/s00392-017-1106-1 · Cited by 275 · see citing works
Genetics of coronary artery disease and myocardial infarction
Dai, X. (2016) · World Journal of Cardiology · doi:10.4330/wjc.v8.i1.1 · Cited by 226 · see citing works
Hegele, R. A., Borén, J., Ginsberg, H. N., Arca, M., Averna, M., Binder, C. J., Calabresi, L., Chapman, M. J., Cuchel, M., von Eckardstein, A., et al. (2020) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(19)30264-5 · Cited by 204 · see citing works
Self-citationKootte, R. S., Smits, L. P., van der Valk, F. M., Dasseux, J., Keyserling, C., Barbaras, R., Paolini, J. F., Santos, R. D., van Dijk, T. H., Dallinga‐Thie, G. M., et al. (2015) · Journal of Lipid Research · doi:10.1194/jlr.m055665 · Cited by 88 · see citing works
Diagnosis and treatment of high density lipoprotein deficiency
Schaefer, E. J., Anthanont, P., Diffenderfer, M. R., Polisecki, E. Y., & Asztalos, B. F. (2016) · Progress in Cardiovascular Diseases · doi:10.1016/j.pcad.2016.08.006 · Cited by 88 · see citing works
Arginine-directed glycation and decreased HDL plasma concentration and functionality
Godfrey, L., Yamada-Fowler, N., Smith, J., Thornalley, P. J., & Rabbani, N. (2014) · Nutrition and Diabetes · doi:10.1038/nutd.2014.31 · Cited by 73 · see citing works
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Geller, A. S., Polisecki, E., Diffenderfer, M. R., Asztalos, B., Karathanasis, S., Hegele, R., & Schaefer, E. (2018) · Journal of Lipid Research · doi:10.1194/jlr.m088203 · Cited by 65 · see citing works
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Kajani, S., Curley, S., & McGillicuddy, F. C. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19071971 · Cited by 68 · see citing works
Nordestgaard, L. T., Christoffersen, M., Lauridsen, B. K., Afzal, S., Nordestgaard, B. G., Frikke‐Schmidt, R., & Tybjærg‐Hansen, A. (2021) · JAMA Cardiology · doi:10.1001/jamacardio.2021.3728 · Cited by 62 · see citing works
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Laurila, P., Surakka, I. L., Sarin, A., Yetukuri, L., Hyötyläinen, T., Söderlund, S., Naukkarinen, J., Tang, J. P., Kettunen, J., Mirel, D. B., et al. (2013) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.112.300733 · Cited by 38 · see citing works
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Wilkins, J., Seckler, H. S., Rink, J., Compton, P. D., Fornelli, L., Thaxton, C., LeDuc, R. D., Jacobs, D., Doubleday, P., Sniderman, A., et al. (2021) · Journal of the American Heart Association : Cardiovascular and Cerebrovascular Disease · doi:10.1161/jaha.120.019890 · Cited by 20 · see citing works
Genetics of HDL-C: A Causal Link to Atherosclerosis?
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Qin, H., Niu, T., & Zhao, J. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00110 · Cited by 18 · see citing works
Byrnes, A., Wu, M. C., Wright, F. A., Li, M., & Li, Y. (2013) · Genetic Epidemiology · doi:10.1002/gepi.21747 · Cited by 18 · see citing works
Butnariu, L. I., Gorduza, E. V., Țarcă, E., Pânzaru, M.-C., Popa, S., Stoleriu, S., Lupu, V. V., Lupu, A., Cojocaru, E., Trandafir, L. M., et al. (2023) · Diagnostics · doi:10.3390/diagnostics13142348 · Cited by 20 · see citing works
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Beyond the Genetics of HDL: Why Is HDL Cholesterol Inversely Related to Cardiovascular Disease?
Kuivenhoven, J. A., & Groen, A. K. (2014) · Handbook of experimental pharmacology · doi:10.1007/978-3-319-09665-0_8 · Cited by 15 · see citing works
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Schoch, L., Badimón, L., & Vilahur, G. (2021) · Biomedicines · doi:10.3390/biomedicines9070805 · Cited by 12 · see citing works
Genetics and regulation of HDL metabolism
Kardassis, D., Thymiakou, E., & Chroni, A. (2021) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2021.159060 · Cited by 12 · see citing works
HDL as a Causal Factor in Atherosclerosis: Insights from Human Genetics
Brunham, L. R. (2016) · Current Atherosclerosis Reports · doi:10.1007/s11883-016-0623-0 · Cited by 13 · see citing works
Wilkins, J., & Rohatgi, A. (2022) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000840 · Cited by 3 · see citing works
Thewjitcharoen, Y., Wanothayaroj, E., Krittiyawong, S., Nakasatien, S., Tsoi, T. F., Lim, C. K. P., Chan, J. C. N., & Himathongkam, T. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.690343 · Cited by 7 · see citing works
Gorshkova, I. N., Meyers, N. L., Herscovitz, H., Mei, X., & Atkinson, D. (2022) · Journal of Lipid Research · doi:10.1016/j.jlr.2022.100319 · Cited by 4 · see citing works
Shou, W., Zhang, C., Shi, J., Wu, H., & Huang, W. (2020) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2020.11.010 · Cited by 3 · see citing works
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Templeton, A. R. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-386025-5.00008-7 · Cited by 1 · see citing works
Gorshkova, I. N., & Atkinson, D. (2017) · PubMed · Cited by 1 · see citing works
Park, J. Y., & Kricka, L. J. (2015) · Clinica Chimica Acta · doi:10.1016/j.cca.2015.06.014
Kabiru, A. Y., Muhammad, B., Garba, M., Ndamitso, M. M., Garba, Y., & Madaki, F. M. (2016) · Journal of Complementary and Alternative Medical Research · doi:10.9734/jocamr/2016/26861
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- Authors
- Haase, C. L., Frikke-Schmidt, R., Nordestgaard, B. G., & Tybjærg-Hansen, A.
- Affiliations
- University of Copenhagen (DK)
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- PLoS Genetics
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- Public Library of Science (PLoS)
- Published
- 2012-11-29
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- 8
- Issue
- 11
- Pages
- e1003063
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- PMC
- PMC3510059
- OpenAlex
- W2015544793
- Cited by
- 37
- References
- 44
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- en
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- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Funders
- Sundhed og Sygdom, Det Frie Forskningsråd
- European Commission (037631)
- Gentofte Hospital
- Rigshospitalet
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Paraoxonase enzyme and polymorphisms
- Keywords
- apolipoprotein A-I, HDL cholesterol, rare variants, non-synonymous mutations, amyloidosis, myocardial infarction, cardiovascular risk, Copenhagen City Heart Study, Copenhagen General Population Study
- MeSH terms
- Amyloidosis, Gene Frequency, Heterozygote, Humans, Cholesterol, HDL, Myocardial Infarction, Phenotype, Population, Risk Factors, Apolipoprotein A-I, Sequence Analysis, DNA, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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