Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Open accessAbstract
To identify genetic variants influencing plasma lipid concentrations, we first used genotype imputation and meta-analysis to combine three genome-wide scans totaling 8,816 individuals and comprising 6,068 individuals specific to our study (1,874 individuals from the FUSION study of type 2 diabetes and 4,184 individuals from the SardiNIA study of aging-associated variables) and 2,758 individuals from the Diabetes Genetics Initiative, reported in a companion study in this issue. We subsequently examined promising signals in 11,569 additional individuals. Overall, we identify strongly associated variants in eleven loci previously implicated in lipid metabolism (ABCA1, the APOA5-APOA4-APOC3-APOA1 and APOE-APOC clusters, APOB, CETP, GCKR, LDLR, LPL, LIPC, LIPG and PCSK9) and also in several newly identified loci (near MVK-MMAB and GALNT2, with variants primarily associated with high-density lipoprotein (HDL) cholesterol; near SORT1, with variants primarily associated with low-density lipoprotein (LDL) cholesterol; near TRIB1, MLXIPL and ANGPTL3, with variants primarily associated with triglycerides; and a locus encompassing several genes near NCAN, with variants strongly associated with both triglycerides and LDL cholesterol). Notably, the 11 independent variants associated with increased LDL cholesterol concentrations in our study also showed increased frequency in a sample of coronary artery disease cases versus controls.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Different haplotypes of APOA5 and APOC3 have been considered to be independently associated with TG levels.
“Although APOA1, APOC3, APOA4, and APOA5 cluster together in 11q23, different haplotypes of APOA5 and APOC3 have been considered to be independently associated with TG levels [100].”
From Fenofibrate and metabolic syndrome (2010) · cites this paper as [100]
The Results (Genome-wide association scans and Follow-up of initial findings; page not provided) associate variants near the APOA5–APOA4–APOC3–APOA1 cluster with triglyceride levels. They do not establish that distinct APOA5 and APOC3 haplotypes are independently associated with those levels. (LLM, conf=0.85)
Experimental — accuracy not yet measuredSeveral genome-wide association studies have linked the rs4420638 and rs10402271 SNPs of the APOE-APOC cluster with higher serum LDL cholesterol levels and an increased risk of coronary artery disease.
“Indeed, several GWAS have linked the rs4420638 and rs10402271 SNPs of the APOE–APOC cluster with higher serum LDL cholesterol levels and an increased risk of coronary artery disease84,85.”
From Multifaceted roles of APOE in Alzheimer disease (2024) · cites this paper as [84]
Variants in loci implicated in Mendelian disorders also contribute to susceptibility to more common forms of disease.
“There are now several examples where variants in loci implicated in Mendelian disorders also contribute to susceptibility to more common forms of disease; these include discoveries related to the genetics of blood lipid levels and coronary artery disease (83, 162), genetics of obesity (100, 163), and the genetics of height (96, 159).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [162]
A single locus can harbor both common variants of weak effect and rare variants of large effect; of 19 lipid loci, nine were already known to carry rare Mendelian mutations with large effects.
“6) A single locus can harbor both common variants of weak effect and rare variants of large effect. In recent GWASs, studies of common SNPs enabled the identification of 19 loci as influencing low- or high-density lipoprotein (LDL, HDL) or triglycerides (84, 85). Nine of these 19 were already known to carry rare Mendelian mutations with large effects, such as the loci for the LDL receptor (LDLR)”
From Genetic Mapping in Human Disease (2008) · cites this paper as [85]
A subset of associations involve genes previously related to the disease; of 19 loci meeting genome-wide significance in a recent GWAS of LDL, HDL, or triglycerides, 12 contained genes with known functions in lipid biology.
“1) A subset of associations involve genes previously related to the disease. Of 19 loci meeting genome-wide significance in a recent GWAS of LDL, HDL, or triglyceride levels, 12 contained genes with known functions in lipid biology (84, 85).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [85]
GWASs have shown that common genetic variation in LDLR and HMGCR influences LDL levels.
“More recently, GWASs have shown that common genetic variation in LDLR and HMGCR influences LDL levels (84, 85).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [85]
SNPs in HMGCR have only a small effect (~5%) on LDL levels, whereas drugs targeting the encoded protein decrease LDL levels by a much greater extent (~30%).
“Although SNPs in HMGCR have only a small effect (~5%) on LDL levels, drugs targeting the encoded protein decrease LDL levels by a much greater extent (~30%).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [85]
Newly described variants on chromosome 1 near SORT1 are associated both with levels of LDL cholesterol and with risk of myocardial infarction.
“For example, newly described variants on chromosome 1 (near SORTI) are associated both with levels of LDL cholesterol (84, 85) and with risk of myocardial infarction (106);”
From Genetic Mapping in Human Disease (2008) · cites this paper as [85]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
Self-citationGenetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,628 · see citing works
Grundy, S. M., Cleeman, J. I., Merz, C. N. B., Brewer, H. B., Clark, L. T., Hunninghake, D. B., Pasternak, R. C., Smith, S. C., & Stone, N. J. (2004) · Circulation · doi:10.1161/01.cir.0000133317.49796.0e · Cited by 6,902 · see citing works
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057 · see citing works
Self-citationA haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162 · see citing works
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Saxena, R., Voight, B. F., Lyssenko, V., Burtt, N. P., de Bakker, P. I. W., Chen, H., Roix, J. J., Kathiresan, S., Hirschhorn, J. N., Daly, M. J., et al. (2007) · Science · doi:10.1126/science.1142358 · Cited by 2,843 · see citing works
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Scott, L. J., Mohlke, K. L., Bonnycastle, L. L., Willer, C. J., Li, Y., Duren, W. L., Erdos, M. R., Stringham, H. M., Chines, P. S., Jackson, A. U., et al. (2007) · Science · doi:10.1126/science.1142382 · Cited by 2,753 · see citing works
Self-citationThe Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714 · see citing works
Nordestgaard, B. G., Benn, M., Schnohr, P., & Tybjærg-Hansen, A. (2007) · JAMA · doi:10.1001/jama.298.3.299 · Cited by 2,058 · see citing works
Genomewide Association Analysis of Coronary Artery Disease
Samani, N. J., Erdmann, J., Hall, A. S., Hengstenberg, C., Mangino, M., Mayer, B., Dixon, R. J., Meitinger, T., Braund, P., Wichmann, H.-E., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa072366 · Cited by 2,044 · see citing works
Scuteri, A., Sanna, S., Chen, W.-M., Uda, M., Albai, G., Strait, J., Najjar, S., Nagaraja, R., Orrú, M., Usala, G., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030115 · Cited by 1,724 · see citing works
Self-citationLaw, M. R., Wald, N. J., & Rudnicka, A. R. (2003) · BMJ · doi:10.1136/bmj.326.7404.1423 · Cited by 1,720 · see citing works
Fasting compared with nonfasting triglycerides and risk of cardiovascular events in women
Bansal, S., Buring, J. E., Rifai, N., Mora, S., Sacks, F. M., & Ridker, P. M. (2007) · JAMA · doi:10.1001/jama.298.3.309 · Cited by 1,619 · see citing works
A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
Helgadottir, A., Thorleifsson, G., Manolescu, A., Gretarsdottir, S., Blondal, T., Jonasdottir, A., Jonasdottir, A., Sigurdsson, A., Baker, A., Palsson, A., et al. (2007) · Science · doi:10.1126/science.1142842 · Cited by 1,594 · see citing works
A Common Allele on Chromosome 9 Associated with Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R., Hinds, D. A., Pennacchio, L. A., Tybjaerg-Hansen, A., Folsom, A. R., et al. (2007) · Science · doi:10.1126/science.1142447 · Cited by 1,587 · see citing works
The Atlas of Heart Disease and Stroke
Mackay, J., Mensah, G. A., & Mendis, S. (2004) · Medical Entomology and Zoology · Cited by 1,433 · see citing works
Kathiresan, S., Melander, O., Guiducci, C., Surti, A., Burtt, N. P., Rieder, M. J., Cooper, G. M., Roos, C., Voight, B. F., Havulinna, A. S., et al. (2008) · Nature Genetics · doi:10.1038/ng.75 · Cited by 1,386 · see citing works
The atlas of heart disease and stroke
Beevers, D. G. (2005) · Journal of Human Hypertension · doi:10.1038/sj.jhh.1001852 · Cited by 1,251 · see citing works
A General Test of Association for Quantitative Traits in Nuclear Families
Abecasis, G. R., Cardon, L. R., & Cookson, W. O. C. (2000) · The American Journal of Human Genetics · doi:10.1086/302698 · Cited by 1,126 · see citing works
Self-citationMultiple 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
Herçberg, S., Galan, P., Preziosi, P., Bertrais, S., Mennen, L. I., Malvy, D. J.-M., Roussel, A., Favier, A. E., & Briançon, S. (2004) · Archives of Internal Medicine · doi:10.1001/archinte.164.21.2335 · Cited by 959 · see citing works
Self-citationKuulasmaa, K., Tunstall‐Pedoe, H., Dobson, A. J., Fortmann, S. P., Sans, S., Tolonen, H. K., Evans, A., & Ferrario, M. (2000) · The Lancet · doi:10.1016/s0140-6736(99)11180-2 · Cited by 950 · see citing works
Hunt, D. U., Varigos, G., Dienstl, F., Lechleitner, P., DeBacker, G., Kornitzer, M., Cairns, J., Turpie, A. G. G., Fritz-Hansen, P., Skagen, K., et al. (1992) · The Lancet · Cited by 894 · see citing works
Self-citationUnique Lipoprotein Phenotype and Genotype Associated With Exceptional Longevity
Barzilai, N. (2003) · JAMA · doi:10.1001/jama.290.15.2030 · Cited by 576 · see citing works
Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians
Pilia, G., Chen, W., Scuteri, A., Orrù, M., Albai, G., Dei, M., Lai, S., Usala, G., Lai, M., Loi, P., et al. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020132 · Cited by 543 · see citing works
Self-citationA Common Allele on Chromosome 9 Associated With Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A. F. R., Roberts, R., Cox, D., Hinds, D. A., Pennacchio, L. A., Tybjærg‐Hansen, A., Folsom, A. R., et al. (2007) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000279314.45442.bb · Cited by 524 · see citing works
Romeo, 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
Angptl3 regulates lipid metabolism in mice
Koishi, R., Ando, Y., Ono, M., Shimamura, M., Yasumo, H., Fujiwara, T., Horikoshi, H., & Furukawa, H. (2002) · Nature Genetics · doi:10.1038/ng814 · Cited by 420 · see citing works
Family-Based Association Tests for Genomewide Association Scans
Chen, W., & Abecasis, G. R. (2007) · The American Journal of Human Genetics · doi:10.1086/521580 · Cited by 398 · see citing works
Self-citationThe molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes
Kuivenhoven, J. A., Pritchard, H., Hill, J. S., Frohlich, J., Assmann, G., & Kastelein, J. J. P. (1997) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)37433-2 · Cited by 364 · see citing works
Herçberg, S., Preziosi, P., Briançon, S., Galan, P., Triol, I., Malvy, D. J.-M., Roussel, A., & Favier, A. E. (1998) · Controlled Clinical Trials · doi:10.1016/s0197-2456(98)00015-4 · Cited by 357 · see citing works
Self-citationHuman Tribbles, a Protein Family Controlling Mitogen-activated Protein Kinase Cascades
Kiss‐Toth, E., Bagstaff, S. M., Sung, H. Y., Jozsa, V., Dempsey, C. E., Caunt, J., Oxley, K. M., Wyllie, D. H., Polgár, T., Harte, M. T., et al. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m407732200 · Cited by 301 · see citing works
The Caerphilly and Speedwell Collaborative Heart Disease Studies
Miller, N. E., Bolton, C., Hayes, T. M., Bainton, D., YARNELL, J. W. G., Baker, I. A., & Sweetnam, P. M. (1992) · Cited by 282 · see citing works
Gotto, A. M., & Brinton, E. A. (2004) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2003.08.061 · Cited by 228 · see citing works
Sortilin/Neurotensin Receptor-3 Binds and Mediates Degradation of Lipoprotein Lipase
Nielsen, M. S., Jacobsen, C. B., Olivecrona, G., Gliemann, J., & Petersen, C. M. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.13.8832 · Cited by 223 · see citing works
Lawlor, D. A., Bedford, C., Taylor, M., & Ebrahim, S. B. J. (2003) · Journal of Epidemiology & Community Health · doi:10.1136/jech.57.2.134 · Cited by 211 · see citing works
Self-citationBainton, D., Miller, N., Bolton, C., YARNELL, J. W. G., Sweetnam, P. M., Baker, I. A., Lewis, B., & Elwood, P. C. (1992) · Heart · doi:10.1136/hrt.68.7.60 · Cited by 210 · see citing works
Severe Hypercholesterolemia in Four British Families With the D374Y Mutation in the PCSK9 Gene
Naoumova, R. P., Tosi, I., Patel, D., Neuwirth, C. K. Y., Horswell, S. D., Marais, A. D., van Heyningen, C., & Soutar, A. K. (2005) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000190668.94752.ab · Cited by 182 · see citing works
(1984) · Journal of Epidemiology & Community Health · doi:10.1136/jech.38.3.259 · Cited by 158 · see citing works
(1992) · PubMed · Cited by 156 · see citing works
In silico method for inferring genotypes in pedigrees
Burdick, J. T., Chen, W., Abecasis, G. R., & Cheung, V. G. (2006) · Nature Genetics · doi:10.1038/ng1863 · Cited by 145 · see citing works
Self-citationTesting the association between polymorphic markers and quantitative traits in pedigrees
George, V. T., Elston, R. C., & Rao, D. C. (1987) · Genetic Epidemiology · doi:10.1002/gepi.1370040304 · Cited by 136 · see citing works
Neurocan: a brain chondroitin sulfate proteoglycan
Rauch, U., Feng, K., & Zhou, X.-H. (2001) · Cellular and Molecular Life Sciences · doi:10.1007/pl00000822 · Cited by 136 · see citing works
GENETICS OF LIPOPROTEIN ABNORMALITIES ASSOCIATED WITH CORONARY HEART DISEASE SUSCEPTIBILITY
Breslow, J. L. (2000) · Annual Review of Genetics · doi:10.1146/annurev.genet.34.1.233 · Cited by 128 · see citing works
Paré, G., Serre, D., Brisson, D., Anand, S. S., Montpetit, A., Tremblay, G., Engert, J. C., Hudson, T. J., & Gaudet, D. (2007) · The American Journal of Human Genetics · doi:10.1086/513286 · Cited by 86 · see citing works
Cholesterol Fractions and Apolipoproteins as Risk Factors for Heart Disease Mortality in Older Men
Clarke, R., Emberson, J., Parish, S., Palmer, A., Shipley, M. J., Linksted, P., Sherliker, P., Clark, S., Armitage, J., FLETCHER, A. E., et al. (2007) · Archives of Internal Medicine · doi:10.1001/archinte.167.13.1373 · Cited by 82 · see citing works
Self-citationPost, W. S., Shen, H., Damcott, C., Arking, D. E., Kao, W. H. L., Sack, P., Ryan, K. A., Chakravarti, A., Mitchell, B. D., & Shuldiner, A. R. (2007) · Human Heredity · doi:10.1159/000103630 · Cited by 76 · see citing works
Self-citationMagrané, J., Casaroli-Marano, R. P., Reina, M., Gåfvels, M. E., & Vilaró, S. (1999) · FEBS Letters · doi:10.1016/s0014-5793(99)00494-9 · Cited by 75 · see citing works
A genome-wide scan of serum lipid levels in the Old Order Amish
Pollin, T. I., Hsueh, W., Steinle, N., et al. (2004) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2003.11.012 · Cited by 68 · see citing works
Determinants of Coronary Artery and Aortic Calcification in the Old Order Amish
Post, W. S., Bielak, L. F., Ryan, K. A., Cheng, Y.-C., Shen, H., Rumberger, J. A., Sheedy, P. F., Shuldiner, A. R., Peyser, P. A., & Mitchell, B. D. (2007) · Circulation · doi:10.1161/circulationaha.106.637512 · Cited by 66 · see citing works
Self-citationKeavney, B. D. (2004) · International Journal of Epidemiology · doi:10.1093/ije/dyh275 · Cited by 62 · see citing works
Lind, S., OLSSON, A. G., Eriksson, M., Rudling, M. J., Eggertsen, G., & Angelin, B. (2004) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2004.01401.x · Cited by 57 · see citing works
Unique lipoprotein phenotype and genotype associated with exceptional longevity
Barzilai, N., Atzmon, G., & Schechter, C. B. (2004) · ACC Current Journal Review · doi:10.1016/j.accreview.2003.12.029 · Cited by 41 · see citing works
Regulation by SREBP-2 defines a potential link between isoprenoid and adenosylcobalamin metabolism
Murphy, C., Murray, A. M., Meaney, S., et al. (2007) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2007.01.155 · Cited by 27 · see citing works
A Randomized, Placebo-Controlled Trial of the Health Effects of Antioxidant Vitamins and Minerals
Herçberg, S., Galan, P., Preziosi, P., Bertrais, S., Mennen, L. I., Malvy, D. J.-M., Roussel, A., Favier, A. E., & Briançon, S. (2004) · Cited by 13 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205 · see citing works
Self-citationBiological, 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
Self-citationWiller (2013) · doi:10.1038/ng.2797 · Cited by 2,983 · see citing works
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891 · see citing works
Self-citationCholesterol efflux capacity, high-density lipoprotein function, and atherosclerosis
Khera, A. V., Cuchel, M., de la Llera-Moya, M., Rodrigues, A., Burke, M. F., Jafri, K., French, B. C., Phillips, J. A., Mucksavage, M. L., Wilensky, R. L., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1001689 · Cited by 1,943 · see citing works
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
Li, Y., Willer, C. J., Ding, J., Scheet, P., & Abecasis, G. R. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20533 · Cited by 1,843 · see citing works
Self-citationthe GIANT Consortium (2009) · Nature Genetics · doi:10.1038/ng.287 · Cited by 1,720 · see citing works
Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease
Clarke, R., Peden, J. F., Hopewell, J. C., Kyriakou, T., Goel, A., Heath, S. C., Parish, S., Barlera, S., Franzosi, M. G., Rust, S., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0902604 · Cited by 1,671 · see citing works
Self-citationBrowning, B. L., & Browning, S. R. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.01.005 · Cited by 1,640 · see citing works
Genetic Mapping in Human Disease
Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452 · see citing works
Kathiresan, S., Melander, O., Guiducci, C., Surti, A., Burtt, N. P., Rieder, M. J., Cooper, G. M., Roos, C., Voight, B. F., Havulinna, A. S., et al. (2008) · Nature Genetics · doi:10.1038/ng.75 · Cited by 1,386 · see citing works
Common variants at 30 loci contribute to polygenic dyslipidemia
Kathiresan, S., Willer, C. J., Peloso, G. M., Demissie, S., Musunuru, K., Schadt, E. E., Kaplan, L., Bennett, D., Li, Y., Tanaka, T., et al. (2009) · Nature Genetics · doi:10.1038/ng.291 · Cited by 1,364 · see citing works
Self-citationChapman, M. J., Ginsberg, H. N., Amarenco, P., Andreotti, F., Borén, J., Catapano, A. L., Descamps, O. S., Fisher, E., Kovanen, P. T., Kuivenhoven, J. A., et al. (2011) · European Heart Journal · doi:10.1093/eurheartj/ehr112 · Cited by 1,227 · see citing works
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
Musunuru, K., Strong, A., Frank-Kamenetsky, M., Lee, N. E., Ahfeldt, T., Sachs, K. V., Li, X., Li, H., Kuperwasser, N., Ruda, V. M., et al. (2010) · Nature · doi:10.1038/nature09266 · Cited by 1,140 · see citing works
Human genetic variation and its contribution to complex traits
Frazer, K. A., Murray, S. S., Schork, N. J., & Topol, E. J. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2554 · Cited by 1,073 · see citing works
Myocardial Infarction Genetics Consortium (2009) · Nature Genetics · doi:10.1038/ng.327 · Cited by 1,088 · see citing works
Speliotes, E. K., Yerges-Armstrong, L. M., Wu, J., Hernaez, R., Kim, L. J., Palmer, C. D., Gudnason, V., Eiriksdottir, G., Garcia, M. E., Launer, L. J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001324 · Cited by 984 · see citing works
Self-citationLi, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990 · see citing works
Self-citationFerence, B. A., Yoo, W., Alesh, I., Mahajan, N., Mirowska, K. K., Mewada, A., Kahn, J., Afonso, L., Williams, K. A., & Flack, J. M. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2012.09.017 · Cited by 898 · see citing works
Bennett, E. P., Mandel, U., Clausen, H., Gerken, T. A., Fritz, T. A., & Tabak, L. A. (2012) · Glycobiology · doi:10.1093/glycob/cwr182 · Cited by 876 · see citing works
Common variants associated with plasma triglycerides and risk for coronary artery disease
Do, R., Willer, C. J., Schmidt, E. M., Sengupta, S., Gao, C., Peloso, G. M., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., et al. (2013) · Nature Genetics · doi:10.1038/ng.2795 · Cited by 862 · see citing works
Self-citationA HapMap harvest of insights into the genetics of common disease
Manolio, T. A., Brooks, L. D., & Collins, F. S. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34772 · Cited by 889 · see citing works
Self-citationThe Genetics of Alzheimer Disease: Back to the Future
Bertram, L., Lill, C. M., & Tanzi, R. E. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.013 · Cited by 834 · 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
National Lipid Association Recommendations for Patient-Centered Management of Dyslipidemia: Part 2
Jacobson, T. A., Maki, K. C., Orringer, C. E., Jones, P. H., Kris-Etherton, P., Sikand, G., La Forge, R., Daniels, S. R., Wilson, D. P., Morris, P. B., et al. (2015) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2015.09.002 · Cited by 784 · see citing works
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum
Gieger, C., Geistlinger, L., Altmaier, E., Hrabé de Angelis, M., Kronenberg, F., Meitinger, T., Mewes, H.-W., Wichmann, H.-E., Weinberger, K. M., Adamski, J., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000282 · Cited by 737 · see citing works
Signals of recent positive selection in a worldwide sample of human populations
Pickrell, J. K., Coop, G., Novembre, J., Kudaravalli, S., Li, J. Z., Absher, D., Srinivasan, B. S., Barsh, G. S., Myers, R. M., Feldman, M. W., et al. (2009) · Genome Research · doi:10.1101/gr.087577.108 · Cited by 717 · see citing works
Polymorphisms Associated with Cholesterol and Risk of Cardiovascular Events
Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0706728 · Cited by 696 · see citing works
A genome-wide perspective of genetic variation in human metabolism
Illig, T., Gieger, C., Zhai, G., Römisch-Margl, W., Wang-Sattler, R., Prehn, C., Altmaier, E., Kastenmüller, G., Kato, B. S., Mewes, H.-W., et al. (2010) · Nature Genetics · doi:10.1038/ng.507 · Cited by 653 · see citing works
Genetics of coronary artery disease: discovery, biology and clinical translation
Khera, A. V., & Kathiresan, S. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2016.160 · Cited by 659 · see citing works
Cardiovascular and Metabolic Effects of <i>ANGPTL3</i> Antisense Oligonucleotides
Graham, M. J., Lee, R. G., Brandt, T. A., Tai, L.-J., Fu, W., Peralta, R., Yu, R., Hurh, E., Paz, E., McEvoy, B. W., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1701329 · Cited by 573 · see citing works
Genome-wide association study identifies multiple loci influencing human serum metabolite levels
Kettunen, J., Tukiainen, T., Sarin, A.-P., Ortega-Alonso, A., Tikkanen, E., Lyytikäinen, L.-P., Kangas, A. J., Soininen, P., Würtz, P., Silander, K., et al. (2012) · Nature Genetics · doi:10.1038/ng.1073 · Cited by 553 · see citing works
Practical aspects of imputation-driven meta-analysis of genome-wide association studies
de Bakker, P. I. W., Ferreira, M. A. R., Jia, X., Neale, B. M., Raychaudhuri, S., & Voight, B. F. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn288 · Cited by 531 · see citing works
Chen, W., Stambolian, D., Edwards, A. O., Branham, K. E., Othman, M., Jakobsdottir, J., Tosakulwong, N., Pericak-Vance, M. A., Campochiaro, P. A., Klein, M. L., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912702107 · Cited by 506 · see citing works
Self-citationThirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
The GIANT Consortium, Elks, C. E., Perry, J. R. B., Sulem, P., Chasman, D. I., Franceschini, N., He, C., Lunetta, K. L., Visser, J. A., Byrne, E. M., et al. (2010) · Nature Genetics · doi:10.1038/ng.714 · Cited by 504 · see citing works
Self-citationGenetic architecture: the shape of the genetic contribution to human traits and disease
Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434 · see citing works
Self-citationGenetics of Type 2 Diabetes—Pitfalls and Possibilities
Prasad, R., & Groop, L. (2015) · Genes · doi:10.3390/genes6010087 · Cited by 458 · see citing works
Rossin, E. J., Lage, K., Raychaudhuri, S., Xavier, R. J., Tatar, D., Benita, Y., Constortium, I. I. B. D. G., Cotsapas, C., & Daly, M. J. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001273 · Cited by 438 · see citing works
Plasma lipoproteins: genetic influences and clinical implications
Hegele, R. A. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2481 · Cited by 462 · see citing works
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
Johansen, C. T., Wang, J., Lanktree, M. B., Cao, H., McIntyre, A. D., Ban, M. R., Martins, R. A., Kennedy, B. A., Hassell, R. G., Visser, M. E., et al. (2010) · Nature Genetics · doi:10.1038/ng.628 · Cited by 437 · see citing works
Levey, D. F., Stein, M. B., Wendt, F. R., Pathak, G. A., Zhou, H., Aslan, M., Quaden, R., Harrington, K. M., Nuñez, Y. Z., Overstreet, C., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-021-00860-2 · Cited by 422 · see citing works
Genome-Wide Association Study of Plasma Polyunsaturated Fatty Acids in the InCHIANTI Study
Tanaka, T., Shen, J., Abecasis, G. R., Kisialiou, A., Ordovas, J. M., Guralnik, J. M., Singleton, A., Bandinelli, S., Cherubini, A., Arnett, D., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000338 · Cited by 418 · see citing works
Self-citationUpdate on NAFLD genetics: From new variants to the clinic
Trépo, E., & Valenti, L. (2020) · Journal of Hepatology · doi:10.1016/j.jhep.2020.02.020 · Cited by 393 · see citing works
Selecting instruments for Mendelian randomization in the wake of genome-wide association studies.
Swerdlow, D. I., Kuchenbaecker, K. B., Shah, S., Sofat, R., Holmes, M. V., White, J., Mindell, J. S., Kivimaki, M., Brunner, E. J., Whittaker, J. C., et al. (2016) · International Journal of Epidemiology · doi:10.1093/ije/dyw088 · Cited by 387 · see citing works
Mahdessian, H., Taxiarchis, A., Popov, S., Silveira, A., Franco-Cereceda, A., Hamsten, A., Eriksson, P., & van't Hooft, F. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1323785111 · Cited by 369 · see citing works
Association between a literature-based genetic risk score and cardiovascular events in women
Paynter, N. P. (2010) · JAMA · doi:10.1001/jama.2010.119 · Cited by 361 · see citing works
Metabolism of triglyceride-rich lipoproteins in health and dyslipidaemia
Borén, J., Taskinen, M.-R., Björnson, E., & Packard, C. J. (2022) · Nature Reviews Cardiology · doi:10.1038/s41569-022-00676-y · Cited by 315 · see citing works
Contois, J. H., McConnell, J. P., Sethi, A. A., Csako, G., Devaraj, S., Hoefner, D. M., & Warnick, G. R. (2009) · Clinical Chemistry · doi:10.1373/clinchem.2008.118356 · Cited by 326 · see citing works
Wadhera, R. K., Steen, D. L., Khan, I., Giugliano, R. P., & Foody, J. M. (2016) · Journal of Clinical Lipidology · doi:10.1016/j.jacl.2015.11.010 · Cited by 306 · see citing works
Panagiotou, O. A., Ioannidis, J. P. A., & for the Genome-Wide Significance Project (2012) · International Journal of Epidemiology · doi:10.1093/ije/dyr178 · Cited by 286 · see citing works
Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks
Yang, X., Deignan, J. L., Qi, H., Zhu, J., Qian, S., Zhong, J., Torosyan, G., Majid, S., Falkard, B., Kleinhanz, R. R., et al. (2009) · Nature Genetics · doi:10.1038/ng.325 · Cited by 288 · see citing works
Regulation of Glucose Transporter Translocation in Health and Diabetes
Bogan, J. S. (2012) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060109-094246 · Cited by 279 · see citing works
Swaroop, A., Chew, E. Y., Bowes Rickman, C., & Abecasis, G. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164350 · Cited by 270 · see citing works
Self-citationJablonski, K. A., McAteer, J. B., de Bakker, P. I. W., Franks, P. W., Pollin, T. I., Hanson, R. L., Saxena, R., Fowler, S., Shuldiner, A. R., Knowler, W. C., et al. (2010) · Diabetes · doi:10.2337/db10-0543 · Cited by 271 · see citing works
Self-citationGenetics and causality of triglyceride-rich lipoproteins in atherosclerotic cardiovascular disease
Rosenson, R. S., Davidson, M. H., Hirsh, B. J., Kathiresan, S., & Gaudet, D. (2014) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2014.09.042 · Cited by 260 · see citing works
Varbo, A., Benn, M., & Nordestgaard, B. G. (2014) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2013.11.008 · Cited by 251 · see citing works
Sweet Sixteenth for ChREBP: Established Roles and Future Goals
Abdul-Wahed, A., Guilmeau, S., & Postic, C. (2017) · Cell Metabolism · doi:10.1016/j.cmet.2017.07.004 · Cited by 231 · see citing works
O'Dushlaine, C., Kenny, E., Heron, E., Donohoe, G., Gill, M., Morris, D., The International Schizophrenia Consortium, & Corvin, A. (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.7 · Cited by 228 · see citing works
Angiopoietin-like 3 in lipoprotein metabolism
Kersten, S. (2017) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2017.119 · Cited by 220 · see citing works
Gusarova, V., Alexa, C. A., Wang, Y., Rafique, A., Kim, J. H., Buckler, D., Mintah, I. J., Shihanian, L. M., Cohen, J. C., Hobbs, H. H., et al. (2015) · Journal of Lipid Research · doi:10.1194/jlr.m054890 · Cited by 210 · see citing works
Thanassoulis, G., Peloso, G. M., Pencina, M. J., Hoffmann, U., Fox, C. S., Cupples, L. A., Levy, D., D'Agostino, R. B., Hwang, S.-J., & O'Donnell, C. J. (2012) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.111.961342 · Cited by 211 · see citing works
Le‐Niculescu, H., Patel, S. D., Bhat, M., Kuczenski, R., Faraone, S. V., Tsuang, M. T., McMahon, F. J., Schork, N. J., Nurnberger, J. I., & Niculescu, A. B. (2009) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30887 · Cited by 201 · see citing works
Schjoldager, K. T.-B. G., & Clausen, H. (2012) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2012.09.014 · Cited by 193 · see citing works
Multifaceted roles of APOE in Alzheimer disease
Jackson, R. J., Hyman, B. T., & Serrano-Pozo, A. (2024) · Nature Reviews Neurology · doi:10.1038/s41582-024-00988-2 · Cited by 193 · see citing works
Lipid-Lowering Agents: Targets Beyond PCSK9
Hegele, R. A., & Tsimikas, S. (2019) · Circulation Research · doi:10.1161/circresaha.118.313171 · Cited by 171 · see citing works
ATP-binding cassette transporter A1: From metabolism to neurodegeneration
Koldamova, R., Fitz, N. F., & Lefterov, I. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.05.007 · Cited by 144 · see citing works
Cholesteryl Ester Transfer Protein Inhibition for Preventing Cardiovascular Events
Armitage, J., Holmes, M. V., & Preiss, D. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.10.072 · Cited by 140 · see citing works
Phosphodiesterase 8B Gene Variants Are Associated with Serum TSH Levels and Thyroid Function
Arnaud-Lopez, L., Usala, G., Ceresini, G., Mitchell, B. D., Pilia, M. G., Piras, M. G., Sestu, N., Maschio, A., Busonero, F., Albai, G., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.04.019 · Cited by 139 · see citing works
Self-citationPlasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study
Voight, B. F., Peloso, G. M., Orho-Melander, M., Frikke-Schmidt, R., Barbalic, M., Jensen, M. K., Hindy, G., Hólm, H., Ding, E. L., Johnson, T., et al. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60312-2 · Cited by 148 · see citing works
Self-citationGlucokinase regulatory protein: complexity at the crossroads of triglyceride and glucose metabolism
Raimondo, A., Rees, M. G., & Gloyn, A. L. (2015) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000155 · Cited by 118 · see citing works
Advances in mass spectrometry driven O-glycoproteomics
Levery, S. B., Steentoft, C., Halim, A., Narimatsu, Y., Clausen, H., & Vakhrushev, S. Y. (2015) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2014.09.026 · Cited by 111 · see citing works
<i>COL4A1</i> Is Associated With Arterial Stiffness by Genome-Wide Association Scan
Tarasov, K. V., Sanna, S., Scuteri, A., Strait, J. B., Orrù, M., Parsa, A., Lin, P.-I., Maschio, A., Lai, S., Piras, M. G., et al. (2009) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.108.823245 · Cited by 104 · see citing works
Self-citationA comparison of approaches to account for uncertainty in analysis of imputed genotypes
Zheng, J., Li, Y., Abecasis, G. R., & Scheet, P. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20552 · Cited by 105 · see citing works
Self-citationSofat, R., Hingorani, A. D., Smeeth, L., Humphries, S. E., Talmud, P. J., Cooper, J., Shah, T., Sandhu, M. S., Ricketts, S. L., Boekholdt, S. M., et al. (2010) · Circulation · doi:10.1161/circulationaha.109.865444 · Cited by 104 · see citing works
Self-citationHaase, 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
Tissue-Specific Roles of ABCA1 Influence Susceptibility to Atherosclerosis
Brunham, L. R., Singaraja, R. R., Duong, M., Timmins, J. M., Fievet, C., Bissada, N., Kang, M. H., Samra, A., Fruchart, J.-C., McManus, B., et al. (2009) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.108.182303 · Cited by 102 · see citing works
Frikke-Schmidt, R. (2010) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.06.005 · Cited by 94 · see citing works
O-Glycosylation regulates polarized secretion by modulating Tango1 stability
Zhang, L., Syed, Z. A., van Dijk Härd, I., Lim, J.-M., Wells, L., & Ten Hagen, K. G. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1322264111 · Cited by 72 · see citing works
From genotype to phenotype in human atherosclerosis - recent findings
Holdt, L. M., & Teupser, D. (2013) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e3283654e7c · Cited by 62 · see citing works
Guo, M. H., Nandakumar, S. K., Ulirsch, J. C., Zekavat, S. M., Buenrostro, J. D., Natarajan, P., Salem, R. M., Chiarle, R., Mitt, M., Kals, M., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1619052114 · Cited by 54 · see citing works
Utility of genetic determinants of lipids and cardiovascular events in assessing risk
Holmes, M. V., Harrison, S., Talmud, P. J., Hingorani, A. D., & Humphries, S. E. (2011) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2011.6 · Cited by 44 · see citing works
WW domain-containing oxidoreductase in neuronal injury and neurological diseases
Chang, H.-T., Liu, C.-C., Chen, S.-T., Yap, Y. V., Chang, N.-S., & Sze, C.-I. (2014) · Oncotarget · doi:10.18632/oncotarget.2961 · Cited by 41 · see citing works
Fenofibrate and metabolic syndrome
T. Kraja, A., A. Province, M., J. Straka, R., M. Ordovas, J., B. Borecki, I., & K. Arnett, D. (2010) · Endocrine, Metabolic & Immune Disorders - Drug Targets · doi:10.2174/187153010791213047 · Cited by 40 · see citing works
“Although APOA1, APOC3, APOA4, and APOA5 cluster together in 11q23, different haplotypes of APOA5 and APOC3 have been considered to be independently associated with TG levels [100].”
Functional validation of new pathways in lipoprotein metabolism identified by human genetics
Bauer, R. C., Stylianou, I. M., & Rader, D. J. (2011) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e32834469b3 · Cited by 36 · see citing works
Genetic Loci Associated With C-Reactive Protein Levels and Risk of Coronary Heart Disease
Elliott, P. (2009) · JAMA · doi:10.1001/jama.2009.954 · Cited by 35 · see citing works
Therapeutic targets of triglyceride metabolism as informed by human genetics
Bauer, R. C., Khetarpal, S. A., Hand, N. J., & Rader, D. J. (2016) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2016.02.005 · Cited by 32 · see citing works
Genomics and Cardiovascular Drug Development
Plump, A. S., & Lum, P. Y. (2009) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2008.11.050 · Cited by 31 · see citing works
Monogenic and Polygenic Models of Coronary Artery Disease
Muse, E. D., Chen, S.-F., & Torkamani, A. (2021) · Current Cardiology Reports · doi:10.1007/s11886-021-01540-0 · Cited by 27 · see citing works
Topol, E. J., & Damani, S. B. (2010) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2010.06.023 · Cited by 18 · see citing works
Reyes-Soffer, G., Liu, J., Thomas, T., Matveyenko, A., Seid, H., Ramakrishnan, R., Holleran, S., Zaghloul, N., Sztalryd-Woodle, C., Pollin, T., et al. (2023) · doi:10.1101/2023.06.23.23291823 · Cited by 6 · see citing works
- Authors
- Willer, C. J., Sanna, S., Jackson, A. U., Scuteri, A., Bonnycastle, L. L., Clarke, R., Heath, S. C., Timpson, N. J., Najjar, S. S., Stringham, H. M., Strait, J., Duren, W. L., Maschio, A., Busonero, F., Mulas, A., Albai, G., Swift, A. J., Morken, M. A., Narisu, N., Bennett, D., Parish, S., Shen, H., Galan, P., Meneton, P., Hercberg, S., Zelenika, D., Chen, W.-M., Li, Y., Scott, L. J., Scheet, P. A., Sundvall, J., Watanabe, R. M., Nagaraja, R., Ebrahim, S., Lawlor, D. A., Ben-Shlomo, Y., Davey-Smith, G., Shuldiner, A. R., Collins, R., Bergman, R. N., Uda, M., Tuomilehto, J., Cao, A., Collins, F. S., Lakatta, E., Lathrop, G. M., Boehnke, M., Schlessinger, D., Mohlke, K. L., & Abecasis, G. R.
- Affiliations
- University of Michigan (US)
- National Institute on Aging (US)
- National Human Genome Research Institute (US)
- University of Oxford (GB)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- University of Bristol (GB)
- Institute of Genetic and Biomedical Research (IT)
- University of Maryland, Baltimore (US)
- Inserm (FR)
- University of Southern California (US)
- London School of Hygiene & Tropical Medicine (GB)
- University of Helsinki (FI)
- University of North Carolina at Chapel Hill (US)
- Corresponding author
- Mohlke, Karen L
- Abecasis, Gonçalo R
- ORCID
- Willer, Cristen J
- Sanna, Serena
- Jackson, Anne U
- Scuteri, Angelo
- Bonnycastle, Lori L
- Clarke, Robert
- Heath, Simon C
- Timpson, Nicholas J
- Najjar, Samer S
- Stringham, Heather M
- Strait, James
- Maschio, Andrea
- Busonero, Fabio
- Mulas, Antonella
- Narisu, Narisu
- Bennett, Derrick
- Parish, Sarah
- Shen, Haiqing
- Galan, Pilar
- Meneton, Pierre
- Chen, Wei-Min
- Li, Yun
- Scott, Laura J
- Scheet, Paul A
- Watanabe, Richard M
- Nagaraja, Ramaiah
- Ebrahim, Shah
- Lawlor, Debbie A
- Shuldiner, Alan R
- Collins, Rory
- Bergman, Richard N
- Uda, Manuela
- Tuomilehto, Jaakko
- Collins, Francis S
- Lakatta, Edward
- Boehnke, Michael
- Schlessinger, David
- Mohlke, Karen L
- Abecasis, Gonçalo R
- Venue
- Nature Genetics
- Published
- 2008-01-13
- Volume
- 40
- Issue
- 2
- Pages
- 161-169
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5206900
- OpenAlex
- W2142769596
- Cited by
- 1,585
- References
- 59
- Citations by year
- 2026: 9 · 2025: 29 · 2024: 33 · 2023: 32 · 2022: 46 · 2021: 63 · 2020: 55 · 2019: 58 · 2018: 75 · 2017: 67 · 2016: 78 · 2015: 88 · 2014: 112 · 2013: 115 · 2012: 139
- FWCI
- 18.13
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Carolina Digital Repository (University of North Carolina at Chapel Hill) (submittedVersion)
- UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion)
- UnissResearch (Università degli Studi di Sassari) (submittedVersion)
- Explore Bristol Research (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion)
- Funders
- Wellcome Trust (076113)
- National Institutes of Health (n01hg065403-000, 1z01ag000235-01, Z01 AG000235)
- National Human Genome Research Institute (N01 HG065403, N01 HG-65403)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK072193, R01DK029867)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- plasma lipid concentrations, coronary artery disease, genetic loci, LDL cholesterol, HDL cholesterol, triglycerides, SORT1, ANGPTL3, GALNT2, neurocan, apolipoprotein E, apolipoprotein C-III, APOA5, PCSK9, LDL receptor, lipoprotein lipase, GCKR, cholesteryl ester transfer protein, hepatic lipase, endothelial lipase, type 2 diabetes, aging
- MeSH terms
- Alleles, Computer Simulation, Coronary Artery Disease, Gene Frequency, Haplotypes, Humans, Lipids, Cholesterol, HDL, Cholesterol, LDL, Markov Chains, Probability, Risk Factors, Triglycerides, Genetic Variation, Cohort Studies, Genome, Human, Likelihood Functions, Case-Control Studies, 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 ›
Are you an author, or do you see a problem with this page? Request a review
