Biological, clinical and population relevance of 95 loci for blood lipids
Open accessAbstract
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants associated with plasma lipids in >100,000 individuals of European ancestry. Here we report 95 significantly associated loci (P < 5 x 10(-8)), with 59 showing genome-wide significant association with lipid traits for the first time. The newly reported associations include single nucleotide polymorphisms (SNPs) near known lipid regulators (for example, CYP7A1, NPC1L1 and SCARB1) as well as in scores of loci not previously implicated in lipoprotein metabolism. The 95 loci contribute not only to normal variation in lipid traits but also to extreme lipid phenotypes and have an impact on lipid traits in three non-European populations (East Asians, South Asians and African Americans). Our results identify several novel loci associated with plasma lipids that are also associated with CAD. Finally, we validated three of the novel genes-GALNT2, PPP1R3B and TTC39B-with experiments in mouse models. Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
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IDOL is a potential therapeutic target.
“thus implicating IDOL as a potential therapeutic target (35)(36)(37).”
From Distinct Functional Domains Contribute to Degradation of the Low Density Lipoprotein Receptor (LDLR) by the E3 Ubiquitin Ligase Inducible Degrader of the LDLR (IDOL) (2011) · cites this paper as [36]
The Biological Relevance of GWAS Loci section identifies MYLIP as Idol and reports that it regulates cellular LDL receptor levels. The New Biological, Clinical, and Genetic Insights section names MYLIP among clinically important genes and points to potential new therapeutic opportunities, but does not specifically designate Idol as a therapeutic target. No page numbers are available in our copy. (LLM, conf=0.82)
Experimental — accuracy not yet measuredGWASs in cohorts of mixed European descent have identified noncoding SNPs in the region of the MYLIP gene that are associated with LDL-C levels.
“Recent genome-wide association studies (GWASs) in cohorts of mixed European descent have identified noncoding SNPs in the region of the MYLIP gene that are associated with LDL-C levels (6)(7)(8), thus demonstrating for the first time genetic association between the MYLIP gene and lipid levels in humans.”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The Genome-Wide Association Mapping section describes lipid GWASs in more than 100,000 people of European descent, and the New Biological, Clinical, and Genetic Insights section identifies MYLIP among genes at newly associated lipid loci and calls it a regulator of LDL-C (page not available in our copy). Our copy does not establish that the SNPs in the MYLIP region were noncoding, so that specific part of the claim is unsupported. (LLM, conf=0.83)
Experimental — accuracy not yet measuredIn recent GWASs and a GWAS meta-analysis of populations of mixed European descent, there were 3 independent (r2 < 0.3) genome-wide significant signals in the MYLIP region, none of which resides within the MYLIP gene.
“In recent GWASs and a GWAS meta-analysis of populations of mixed European descent (6-8), there were 3 independent (r 2 < 0.3) genome-wide significant signals in the MYLIP region, none of which resides within the MYLIP gene.”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The Genome-Wide Association Mapping section (page unavailable) reports a meta-analysis of 46 lipid GWASs in people of European descent, and the Biological Relevance section identifies MYLIP as a gene implicated by the study. Our copy does not establish that the MYLIP region had three independent signals with r² < 0.3 or that none lay within the gene. (LLM, conf=0.84)
Experimental — accuracy not yet measuredIn the large GWAS meta-analysis of cohorts of mixed European descent, rs9370867 was associated with LDL-C levels for the same A risk allele (MAF 50%) as in Mexicans (P = 5.8 × 10 -06).
“We also examined the direct association evidence for rs9370867 in the large GWAS meta-analysis of cohorts of mixed European descent (6): rs9370867 was associated with LDL-C levels for the same A risk allele (MAF 50%) as in Mexicans (P = 5.8 × 10 -06 ; Figure 2A).”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The “Genome-Wide Association Mapping in >100,000 Individuals” section describes a meta-analysis of 46 lipid GWASs in people of European descent, including LDL-C association testing. Our copy does not report rs9370867’s A allele, its 50% minor allele frequency, or the stated P value; a search for the SNP found no matching passage. Page numbers were not provided. (LLM, conf=0.84)
Experimental — accuracy not yet measuredAnother GWAS signal was detected by the SNPs rs2327951 and rs2142672 that mapped and tagged variants 48-49 kb downstream from MYLIP.
“Another GWAS signal was detected by the SNPs rs2327951 (6) and rs2142672 (8) that mapped and tagged variants 48-49 kb downstream from MYLIP.”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The Biological Relevance of GWAS Loci section identifies MYLIP as a gene implicated by this GWAS, supporting a lipid-associated signal near MYLIP. However, searches of our copy for rs2327951, rs2142672, and the claimed 48–49 kb downstream location found no passage supporting those specific SNPs or distances. (LLM, conf=0.80)
Experimental — accuracy not yet measured
The association between triglycerides and cardiovascular risk is well established from epidemiological studies, genome-wide analyses, and Mendelian randomization studies.
“The association between triglycerides and cardiovascular (CV) risk is well established from epidemiological studies,1-5 genome-wide analyses,6-8 and Mendelian randomization studies.9,10”
Recent genome-wide association studies identify IDOL as a novel modulator of LDL in humans.
“Recent genome-wide association studies identify IDOL as a novel modulator of LDL in humans, thus implicating IDOL as a potential therapeutic target (35)(36)(37).”
The sample size of rs9370867 may not have been sufficiently powered to meet the genome-wide significance level in the meta-analysis GWAS.
“Hence, this calculation demonstrated that the sample size of rs9370867 may not have been sufficiently powered to meet the genome-wide significance level in the meta-analysis GWAS (6).”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The HFE rs1800562 variant used as an instrument for systemic iron status has previously been associated with low-density lipoprotein cholesterol in GWAS meta-analysis.
“The HFE rs1800562 variant that we use as an instrument for systemic iron status has previously been associated with low-density lipoprotein cholesterol in GWAS meta-analysis [39].”
From Associations of genetically determined iron status across the phenome: A mendelian randomization study (2019) · cites this paper as [39]
The “Genome-Wide Association Mapping in >100,000 Individuals” section reports a meta-analysis of lipid GWASs, including LDL cholesterol. However, searches of our copy for rs1800562, HFE, and iron found no passage linking that specific variant to LDL cholesterol; the general GWAS result cannot establish the claimed association. (LLM, conf=0.72)
Experimental — accuracy not yet measuredThe amino acid change rs9370867 is most likely the functional mechanism underlying the previous GWAS variants rs2294261 and rs2480.
“Thus, our study demonstrated, for the first time to our knowledge, that the amino acid change rs9370867 is most likely the functional mechanism underlying these previous GWAS variants, rs2294261 and rs2480 (6,7).”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The cited paper’s Genome-Wide Association Mapping and Biological Relevance sections discuss lipid-associated loci and possible functional mechanisms, but the passages found do not identify rs2294261, rs2480, or rs9370867. Searches for all three identifiers found no matching passage. The citing sentence presents the functional-mechanism conclusion as its own study’s finding, so this source cannot verify the specific earlier-variant identification attributed to it. (LLM, conf=0.72)
Experimental — accuracy not yet measuredThe most strongly associated variant in Mexicans, rs9370867, was in strong LD with the GWAS associated variants rs2480 and rs2294261 in the CEU founders with European ancestry and, to a lesser extent, in the Mexican controls (r2 = 0.73 and r2 = 0.49, respectively).
“Importantly, our LD analyses also demonstrated that the most strongly associated variant in Mexicans, rs9370867, was in strong LD with the GWAS associated variants rs2480 (7) and rs2294261 (6) in the CEU founders with European ancestry and, to a lesser extent, in the Mexican controls (r 2 = 0.73 and r 2 = 0.49, respectively; Figure 3).”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
Split into 2 atoms — 0 confirmed, 0 partially supported, 0 disputed, 0 misattributed, 2 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredTrans-ethnic LD and association data suggest that the nonsynonymous SNP rs9370867 is more likely the true underlying functional variant accounting for the genome-wide significant signals rs2480 and rs2294261 observed in previous GWASs.
“Taken together, these trans-ethnic LD and association data suggest that the nonsynonymous SNP rs9370867 is more likely the true underlying functional variant accounting for the genome-wide significant signals rs2480 and rs2294261 observed in the previous GWASs (6,7).”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The ‘Relevance of GWAS Loci in Non-Europeans’ section discusses using population differences in linkage disequilibrium to prioritize functional variants, but it does not identify rs9370867 as the variant underlying the signals at rs2480 and rs2294261. Searches for those SNP identifiers and the proposed trans-ethnic inference found no passage addressing that specific conclusion. (LLM, conf=0.73)
Experimental — accuracy not yet measuredThe expression levels of MYLIP were not significantly different with respect to the rs3757354 genotypes in the fat biopsies of Mexican subjects or in fat or liver biopsies from subjects of mixed European descent.
“It is worth noting that the expression levels of MYLIP were not significantly different with respect to the rs3757354 genotypes in the fat biopsies of Mexican subjects or in fat or liver biopsies from subjects of mixed European descent (6).”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The section “Genome-Wide Association Mapping in >100,000 Individuals” describes testing SNP–expression correlations in liver and fat, and “Biological Relevance of GWAS Loci” mentions MYLIP. Neither reports MYLIP expression by rs3757354 genotype or the claimed nonsignificant results in Mexican or mixed-European biopsy samples; searches for rs3757354 and those population-specific results found no such passage in our copy. Page numbers were not provided. (LLM, conf=0.72)
Experimental — accuracy not yet measuredThe nonsynonymous rs9370867 variant was in strong LD with 2 upstream genome-wide significant GWAS variants, rs2294261 and rs2480, in Europeans.
“We observed that the nonsynonymous rs9370867 variant was in strong LD with 2 upstream genome-wide significant GWAS variants, rs2294261 (6) and rs2480 (7), in Europeans.”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The Genome-Wide Association Mapping section reports genome-wide significant lipid loci, and the Relevance of GWAS Loci in Non-Europeans section discusses LD patterns generally. Neither identifies rs2294261 or reports its LD with rs9370867; searches for those variants and rs2480 found no matching passage. The sentence presents the LD finding as the citing authors’ own observation, while this citation is attached specifically to rs2294261, whose GWAS status cannot be verified from our copy. (LLM, conf=0.72)
Experimental — accuracy not yet measuredThe GWAS variants of the other 2 associated LD groups, rs3757354 and rs2327951/rs2142672, were nominally associated with high TC in the Mexican dyslipidemic study sample for the same risk allele as in Europeans.
“The GWAS variants of the other 2 associated LD groups, rs3757354 (6) and the SNPs rs2327951 (6) and rs2142672 (8), which are in full LD (r 2 ≥ 0.97) in both Europeans and Mexicans, were nominally associated with high TC in the Mexican dyslipidemic study sample for the same risks allele as in Europeans (Figure 2B and Supplemental Table 4).”
From The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans (2011) · cites this paper as [6]
The Genome-Wide Association Mapping section describes a European-ancestry GWAS of total cholesterol and other lipid traits, but the available passages do not identify rs3757354 or rs2327951. Searches for all three named SNPs found no matching passage in our copy. The Mexican-sample association is presented as the citing study’s own result, not as a finding attributed to this source. (LLM, conf=0.72)
Experimental — accuracy not yet measuredProfiling plasma lipids in large populations has uncovered sequence variations that substantially impact lipid phenotypes.
“Profiling plasma lipids in large populations has uncovered sequence variations that substantially impact lipid phenotypes (Cohen et al., 2005; Teslovich et al., 2010).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Teslovich et al., 2010
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- Authors
- 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., Johansen, C. T., Fouchier, S. W., Isaacs, A., Peloso, G. M., Barbalic, M., Ricketts, S. L., Bis, J. C., Aulchenko, Y. S., Thorleifsson, G., Feitosa, M. F., Chambers, J., Orho-Melander, M., Melander, O., Johnson, T., Li, X., Guo, X., Li, M., Shin Cho, Y., Jin Go, M., Jin Kim, Y., Lee, J.-Y., Park, T., Kim, K., Sim, X., Twee-Hee Ong, R., Croteau-Chonka, D. C., Lange, L. A., Smith, J. D., Song, K., Hua Zhao, J., Yuan, X., Luan, J., Lamina, C., Ziegler, A., Zhang, W., Zee, R. Y. L., Wright, A. F., Witteman, J. C. M., Wilson, J. F., Willemsen, G., Wichmann, H.-E., Whitfield, J. B., Waterworth, D. M., Wareham, N. J., Waeber, G., Vollenweider, P., Voight, B. F., Vitart, V., Uitterlinden, A. G., Uda, M., Tuomilehto, J., Thompson, J. R., Tanaka, T., Surakka, I., Stringham, H. M., Spector, T. D., Soranzo, N., Smit, J. H., Sinisalo, J., Silander, K., Sijbrands, E. J. G., Scuteri, A., Scott, J., Schlessinger, D., Sanna, S., Salomaa, V., Saharinen, J., Sabatti, C., Ruokonen, A., Rudan, I., Rose, L. M., Roberts, R., Rieder, M., Psaty, B. M., Pramstaller, P. P., Pichler, I., Perola, M., Penninx, B. W. J. H., Pedersen, N. L., Pattaro, C., Parker, A. N., Pare, G., Oostra, B. A., O’Donnell, C. J., Nieminen, M. S., Nickerson, D. A., Montgomery, G. W., Meitinger, T., McPherson, R., McCarthy, M. I., McArdle, W., Masson, D., Martin, N. G., Marroni, F., Mangino, M., Magnusson, P. K. E., Lucas, G., Luben, R., Loos, R. J. F., Lokki, M.-L., Lettre, G., Langenberg, C., Launer, L. J., Lakatta, E. G., Laaksonen, R., Kyvik, K. O., Kronenberg, F., König, I. R., Khaw, K.-T., Kaprio, J., Kaplan, L. M., Johansson, Å., Jarvelin, M.-R., Cecile J. W. Janssens, A., Ingelsson, E., Igl, W., Kees Hovingh, G., Hottenga, J.-J., Hofman, A., Hicks, A. A., Hengstenberg, C., Heid, I. M., Hayward, C., Havulinna, A. S., Hastie, N. D., Harris, T. B., Haritunians, T., Hall, A. S., Gyllensten, U., Guiducci, C., Groop, L. C., Gonzalez, E., Gieger, C., Freimer, N. B., Ferrucci, L., Erdmann, J., Elliott, P., Ejebe, K. G., Döring, A., Dominiczak, A. F., Demissie, S., Deloukas, P., de Geus, E. J. C., de Faire, U., Crawford, G., Collins, F. S., Chen, Y.-D. I., Caulfield, M. J., Campbell, H., Burtt, N. P., Bonnycastle, L. L., Boomsma, D. I., Boekholdt, S. M., Bergman, R. N., Barroso, I., Bandinelli, S., Ballantyne, C. M., Assimes, T. L., Quertermous, T., Altshuler, D., Seielstad, M., Wong, T. Y., Tai, E.-S., Feranil, A. B., Kuzawa, C. W., Adair, L. S., Taylor Jr, H. A., Borecki, I. B., Gabriel, S. B., Wilson, J. G., Holm, H., Thorsteinsdottir, U., Gudnason, V., Krauss, R. M., Mohlke, K. L., Ordovas, J. M., Munroe, P. B., Kooner, J. S., Tall, A. R., Hegele, R. A., Kastelein, J. J. P., Schadt, E. E., Rotter, J. I., Boerwinkle, E., Strachan, D. P., Mooser, V., Stefansson, K., Reilly, M. P., Samani, N. J., Schunkert, H., Cupples, L. A., Sandhu, M. S., Ridker, P. M., Rader, D. J., van Duijn, C. M., Peltonen, L., Abecasis, G. R., Boehnke, M., & Kathiresan, S.
- Affiliations
- University of Michigan (US)
- Broad Institute (US)
- University of Iceland (IS)
- University of Pennsylvania (US)
- Columbia University (US)
- University of Helsinki (FI)
- Brigham and Women's Hospital (US)
- Western University (CA)
- Amsterdam UMC Location University of Amsterdam (NL)
- Erasmus MC (NL)
- Boston University (US)
- University of Cambridge (GB)
- University of Washington (US)
- Washington University in St. Louis (US)
- Imperial College London (GB)
- Lund University (SE)
- Queen Mary University of London (GB)
- Cedars-Sinai Medical Center (US)
- Korea National Institute of Health (KR)
- Seoul National University (KR)
- Sookmyung Women's University (KR)
- National University of Singapore (SG)
- University of North Carolina at Chapel Hill (US)
- GlaxoSmithKline (United States) (US)
- Addenbrooke's Hospital (GB)
- Innsbruck Medical University (AT)
- University of Lübeck (DE)
- Institute of Genetics and Cancer (GB)
- University of Edinburgh (GB)
- Vrije Universiteit Amsterdam (NL)
- Helmholtz Munich (DE)
- QIMR Berghofer Medical Research Institute (AU)
- Centre Hospitalier Universitaire Vaudois (CH)
- Institute of Genetic and Biomedical Research (IT)
- Finnish Institute for Health and Welfare (FI)
- University of Leicester (GB)
- National Institutes of Health (US)
- King's College London (GB)
- Amsterdam Neuroscience (NL)
- Helsinki University Hospital (FI)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Hammersmith Hospital (GB)
- National Institute on Aging (US)
- Stanford University (US)
- University of Oulu (FI)
- University of Ottawa (CA)
- Group Health Cooperative (US)
- Eurac Research (IT)
- Karolinska Institutet (SE)
- Amgen (United States) (US)
- Harvard University (US)
- TUM Klinikum (DE)
- Centre for Human Genetics (GB)
- University of Bristol (GB)
- Istituto di Genomica Applicata (IT)
- Municipal Institute for Medical Research (ES)
- Montreal Heart Institute (CA)
- Tampere University Hospital (FI)
- University of Southern Denmark (DK)
- Massachusetts General Hospital (US)
- Uppsala University (SE)
- University of Regensburg (DE)
- University of Leeds (GB)
- University of California, Los Angeles (US)
- University of Glasgow (GB)
- University of Southern California (US)
- Wellcome Sanger Institute (GB)
- Azienda Sanitaria di Firenze (IT)
- Baylor College of Medicine (US)
- Stanford Medicine (US)
- Genome Institute of Singapore (SG)
- University of San Carlos (PH)
- Northwestern University (US)
- University of Mississippi Medical Center (US)
- Sage Bionetworks (US)
- The University of Texas Health Science Center at Houston (US)
- St George's, University of London (GB)
- Corresponding author
- Kathiresan, Sekar
- ORCID
- Smith, Albert V.
- Edmondson, Andrew C.
- Stylianou, Ioannis M.
- Koseki, Masahiro
- Pirruccello, James P.
- Ripatti, Samuli
- Chasman, Daniel I.
- Willer, Cristen J.
- Fouchier, Sigrid W.
- Isaacs, Aaron
- Peloso, Gina M.
- Ricketts, Sally L.
- Bis, Joshua C.
- Aulchenko, Yurii S.
- Feitosa, Mary F.
- Chambers, John
- Melander, Olle
- Johnson, Toby
- Li, Xiaohui
- Guo, Xiuqing
- Li, Mingyao
- Lee, Jong-Young
- Park, Taesung
- Kim, Kyunga
- Sim, Xueling
- Lange, Leslie A.
- Smith, Joshua D.
- Yuan, Xin
- Luan, Jian’an
- Lamina, Claudia
- Ziegler, Andreas
- Zhang, Weihua
- Zee, Robert Y. L.
- Wilson, James F.
- Willemsen, Gonneke
- Wichmann, H.-Erich
- Whitfield, John B.
- Waterworth, Dawn M.
- Wareham, Nicholas J.
- Waeber, Gérard
- Voight, Benjamin F.
- Uda, Manuela
- Tuomilehto, Jaakko
- Tanaka, Toshiko
- Surakka, Ida
- Stringham, Heather M.
- Spector, Tim D.
- Soranzo, Nicole
- Smit, Johannes H.
- Sinisalo, Juha
- Sijbrands, Eric J. G.
- Scuteri, Angelo
- Scott, James
- Schlessinger, David
- Sanna, Serena
- Salomaa, Veikko
- Sabatti, Chiara
- Rudan, Igor
- Rose, Lynda M.
- Roberts, Robert
- Rieder, Mark
- Psaty, Bruce M.
- Pramstaller, Peter P.
- Pichler, Irene
- Perola, Markus
- Penninx, Brenda W. J. H.
- Pedersen, Nancy L.
- Pattaro, Cristian
- Parker, Alex N.
- O’Donnell, Christopher J.
- Nieminen, Markku S.
- Nickerson, Deborah A.
- Montgomery, Grant W.
- Meitinger, Thomas
- McPherson, Ruth
- McCarthy, Mark I.
- Masson, David
- Martin, Nicholas G.
- Marroni, Fabio
- Mangino, Massimo
- Magnusson, Patrik K. E.
- Lucas, Gavin
- Luben, Robert
- Loos, Ruth J. F.
- Lokki, Marja-Liisa
- Lettre, Guillaume
- Langenberg, Claudia
- Launer, Lenore J.
- Lakatta, Edward G.
- Laaksonen, Reijo
- Kyvik, Kirsten O.
- Kronenberg, Florian
- König, Inke R.
- Khaw, Kay-Tee
- Kaprio, Jaakko
- Kaplan, Lee M.
- Johansson, Åsa
- Ingelsson, Erik
- Igl, Wilmar
- Hottenga, Jouke-Jan
- Hicks, Andrew A.
- Hengstenberg, Christian
- Heid, Iris M.
- Hayward, Caroline
- Havulinna, Aki S.
- Hastie, Nicholas D.
- Harris, Tamara B.
- Haritunians, Talin
- Hall, Alistair S.
- Gyllensten, Ulf
- Groop, Leif C.
- Gieger, Christian
- Freimer, Nelson B.
- Ferrucci, Luigi
- Erdmann, Jeanette
- Elliott, Paul
- Ejebe, Kenechi G.
- Dominiczak, Anna F.
- Demissie, Serkalem
- Collins, Francis S.
- Chen, Yii-der I.
- Caulfield, Mark J.
- Bonnycastle, Lori L.
- Boomsma, Dorret I.
- Boekholdt, S. Matthijs
- Bergman, Richard N.
- Barroso, Inês
- Bandinelli, Stefania
- Ballantyne, Christie M.
- Assimes, Themistocles L.
- Quertermous, Thomas
- Altshuler, David
- Seielstad, Mark
- Wong, Tien Y.
- Tai, E-Shyong
- Kuzawa, Christopher W.
- Adair, Linda S.
- Borecki, Ingrid B.
- Gabriel, Stacey B.
- Wilson, James G.
- Gudnason, Vilmundur
- Krauss, Ronald M.
- Mohlke, Karen L.
- Munroe, Patricia B.
- Kooner, Jaspal S.
- Tall, Alan R.
- Hegele, Robert A.
- Kastelein, John J.P.
- Rotter, Jerome I.
- Boerwinkle, Eric
- Strachan, David P.
- Mooser, Vincent
- Reilly, Muredach P.
- Samani, Nilesh J
- Schunkert, Heribert
- Cupples, L. Adrienne
- Sandhu, Manjinder S.
- Ridker, Paul M
- Rader, Daniel J.
- Peltonen, Leena
- Abecasis, Gonçalo R.
- Boehnke, Michael
- Kathiresan, Sekar
- Venue
- Nature
- Published
- 2010-08
- Volume
- 466
- Issue
- 7307
- Pages
- 707-713
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3039276
- OpenAlex
- W2115801316
- Cited by
- 3,487
- References
- 20
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- FWCI
- 126.99
- Type
- journal article
- Language
- en
- Open access
- green
- research.vu.nl
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- www.springer.com/tdm (tdm)
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- GlaxoSmithKline
- Wellcome Trust (068545/Z/02), 077016/Z/05/Z, 079895, 076113/B/04/Z)
- British Heart Foundation (PG/08/094/26019, SP/08/005/25115, PG/02/128, RG/07/005/23633, PG/08/094)
- National Institutes of Health (2r24hd050924-06, n01hc085082-026, n01hc085081-021, 5r01dk068336-03, n01hc045133-001, n01ag12100-57-0-2, n01hc085079-024, n01hc015103-009, n01hc085084-005, n01hc55021-47-0-1, n01hc085085-011, n01hc085083-027, n01hc55020-39-0-0, n01hc085080-026, n01hc55016-37-0-0, n01hc055022-024, n01hg065403-000, n01hc085086-022, 5r01hl087700-03, n01hc55019-35-0-1, 6r01hl087679-03, 5k99hl094535-02, n01hc55018-38-0-1, n01hc25195-41-0-1, 5r01hl088215-04, 5p20rr020649-03, 6u54rr020278-06, n01hc55222-0-0-0, n01hc075150-004, n01hc035129-010, n01hc55015-48-0-1)
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- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R24 HD-050924)
- 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 lipids, genetic association, cholesterol, LDL cholesterol, HDL cholesterol, triglycerides, coronary artery disease, lipoprotein metabolism, single nucleotide polymorphisms, CYP7A1, NPC1L1, scavenger receptor class B type I, GALNT2, PPP1R3B, cross-population validation, East Asians, South Asians, African Americans, mouse model
- MeSH terms
- Polypeptide N-acetylgalactosaminyltransferase, Animals, Black or African American, Coronary Artery Disease, Europe, Female, Genotype, Humans, Lipids, Cholesterol, HDL, Cholesterol, LDL, Liver, Male, Phenotype, Triglycerides, Reproducibility of Results, N-Acetylgalactosaminyltransferases, Polymorphism, Single Nucleotide, White People, Asian People, Lipid Metabolism, Mice, Protein Phosphatase 1, Genome-Wide Association Study, Genetic Loci
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