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Genetic determinants of inherited susceptibility to hypercholesterolemia—a comprehensive literature review
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Human genome-wide association studies have identified more than 250 loci associated with blood lipid levels.
“Human genome-wide association studies (GWAS) have also identified >250 loci associated with blood lipid levels[9–11].”
From Genome-scale CRISPR screening for modifiers of cellular LDL uptake (2021) · cites this paper as [10]
The section “Other loci associated with plasma lipid levels identified by GWAS” says that many GWAS have identified variants associated with serum lipid traits, supporting the general point. It does not establish the claimed count of more than 250 loci; another section reports over 190 variants in about 60 genes, which is a different measure. (LLM, conf=0.86)
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O'Leary, N. A., Wright, M. W., Brister, J. R., Ciufo, S., Haddad, D., McVeigh, R., Rajput, B., Robbertse, B., Smith-White, B., Ako-Adjei, D., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1189 · Cited by 6,357
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
The Enzymes, Regulation, and Genetics of Bile Acid Synthesis
Russell, D. W. (2003) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.72.121801.161712 · Cited by 2,069
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
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
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
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
Chasman, D. I., Paré, G., Mora, S., Hopewell, J. C., Peloso, G., Clarke, R., Cupples, L. A., Hamsten, A., Kathiresan, S., Mälarstig, A., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000730 · Cited by 337
Angiopoietin-Like Proteins: A Comprehensive Look
Santulli, G. (2014) · Frontiers in Endocrinology · doi:10.3389/fendo.2014.00004 · Cited by 320
Class B Scavenger Receptor-Mediated Intestinal Absorption of Dietary β-Carotene and Cholesterol
van Bennekum, A., Werder, M., Thuahnai, S. T., Han, C.-H., Duong, P., Williams, D. L., Wettstein, P., Schulthess, G., Phillips, M. C., & Hauser, H. (2005) · Biochemistry · doi:10.1021/bi0484320 · Cited by 290
Schrem, H., Klempnauer, J., & Borlak, J. (2002) · Pharmacological Reviews · doi:10.1124/pr.54.1.129 · Cited by 283
Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism
Strong, A., Ding, Q., Edmondson, A. C., Millar, J. S., Sachs, K. V., Li, X., Kumaravel, A., Wang, M. Y., Ai, D., Guo, L., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63563 · Cited by 222
Inactivation of ANGPTL3 reduces hepatic VLDL-triglyceride secretion
Wang, Y., Gusarova, V., Banfi, S., Gromada, J., Cohen, J. C., & Hobbs, H. H. (2015) · Journal of Lipid Research · doi:10.1194/jlr.m054882 · Cited by 189
The hypercholesterolemia-risk gene SORT1 facilitates PCSK9 secretion
Gustafsen, C., Kjolby, M., Nyegaard, M., Mattheisen, M., Lundhede, J., Buttenschøn, H., Mors, O., Bentzon, J. F., Madsen, P., Nykjaer, A., et al. (2014) · Cell Metabolism · doi:10.1016/j.cmet.2013.12.006 · Cited by 170
Lai, C.-Q., Demissie, S., Cupples, L. A., Zhu, Y., Adiconis, X., Parnell, L. D., Corella, D., & Ordovas, J. M. (2004) · Journal of Lipid Research · doi:10.1194/jlr.m400192-jlr200 · Cited by 163
Marduel, M., Ouguerram, K., Serre, V., Bonnefont-Rousselot, D., Marques-Pinheiro, A., Erik Berge, K., Devillers, M., Luc, G., Lecerf, J.-M., Tosolini, L., et al. (2013) · Human Mutation · doi:10.1002/humu.22215 · Cited by 133
Scotti, E., Calamai, M., Goulbourne, C. N., Zhang, L., Hong, C., Lin, R. R., Choi, J., Pilch, P. F., Fong, L. G., Zou, P., et al. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.01716-12 · Cited by 81
Weissglas-Volkov, D., Calkin, A. C., Tusie-Luna, T., Sinsheimer, J. S., Zelcer, N., Riba, L., Tino, A. M. V., Ordoñez-Sánchez, M. L., Cruz-Bautista, I., Aguilar-Salinas, C. A., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci45504 · Cited by 66
Flagged first, then by citations
Research works printed but not linked: 235
- Prospective Studies Collaboration. Blood cholesterol and vascular mortality by age, sex, and blood pressure: a meta-analysis of individual data from 61 prospective studies with 55 000 vascular deaths. Lancet. 2007;370(9602):1829–39. · DOI · Paper page
- Law MR, Wald NJ, Rudnicka AR. Quantifying effect of statins on low density lipoprotein cholesterol, ischaemic heart disease, and stroke: systematic review and meta-analysis. BMJ. 2003;326(7404):1423. · DOI · Paper page
- Soutar AK, Naoumova RP. Mechanisms of disease: genetic causes of familial hypercholesterolemia. Nat Clin Pract Cardiovasc Med. 2007;4(4):214–25. · DOI · Paper page
- Youngblom E, Pariani M, Knowles JW. Familial Hypercholesterolemia. 2014 Jan 2 [Updated 2016 Dec 8]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2017. https://www.ncbi.nlm.nih.gov/books/NBK174884/ . Accessed 10 Jan 2017.
- Marques-Pinheiro A, Marduel M, Rabès JP, Devillers M, Villéger L, Allard D, et al. A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22. 1. Eur J Hum Genet. 2010;18(11):1236–42. · DOI · Paper page
- Fouchier SW, Dallinga-Thie GM, Meijers JC, Zelcer N, Kastelein JJ, Defesche JC, et al. Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. Circ Res. 2014;115(6):552–5. · DOI
- Varret M, Abifadel M, Rabès JP, Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet. 2008;73:1–13. · DOI
- De Castro-orós I, Pocoví M, Civeira F. The fine line between familial and polygenic hypercholesterolemia. Clin Lipidol. 2013;8(3):303–6. · DOI
- Vrablik M, Ceska R, Horinek A. Major apolipoprotein B-100 mutations in lipoprotein metabolism and atherosclerosis. Physiol Res. 2001;50(4):337–43. · DOI
- Andersen LH, Miserez AR, Ahmad Z, Andersen RL. Familial defective apolipoprotein B-100: a review. J Clin Lipidol. 2016;10(6):1297–302. · DOI
- Wallace C, Newhouse SJ, Braund P, Zhang F, Tobin M, Falchi M, et al. Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet. 2008;82(1):139–49. · DOI
- Chasman DI, Paré G, Zee RY, Parker AN, Cook NR, Buring JE, et al. Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, Apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication, clinical perspective. Circ Cardiovasc Genet. 2008;1(1):21–30. · DOI
- Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet. 2008;40(2):189–97. · DOI · Paper page
- Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, et al. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet. 2008;40(2):161–9. · DOI · Paper page
- Sandhu MS, Waterworth DM, Debenham SL, Wheeler E, Papadakis K, Zhao JH, et al. LDL-cholesterol concentrations: a genome-wide association study. Lancet. 2008;371(9611):483–91. · DOI
- Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, Pramstaller PP, et al. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet. 2009;41(1):47–55. · DOI
- Kathiresan S, Willer CJ, Peloso GM, Demissie S, Musunuru K, Schadt EE, et al. Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet. 2009;41(1):56–65. · DOI · Paper page
- Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, et al. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet. 2009;41(1):35–46. · DOI
- Waterworth DM, Ricketts SL, Song K, Chen L, Zhao JH, Ripatti S, et al. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arterioscler Thromb Vasc Biol. 2010;30(11):2264–76. · DOI · Paper page
- Lettre G, Palmer CD, Young T, Ejebe KG, Allayee H, Benjamin EJ, et al. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe project. PLoS Genet. 2011;7(2):e1001300. · DOI · Paper page
- Global Lipids Genetics Consortium. Discovery and refinement of loci associated with lipid levels. Nat Genet. 2013;45(11):1274–83. · DOI
- Rodrigues AC, Sobrino B, Genvigir FD, Willrich MA, Arazi SS, Dorea EL, et al. Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response. Clin Chim Acta. 2013;417:8-1. · DOI
- Park MH, Kim N, Lee JY, Park HY. Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. J Med Genet. 2011 Jan 1;48(1):10–5. · DOI
- Edmondson AC, Braund PS, Stylianou IM, Khera AV, Nelson CP, Wolfe ML, et al. Dense genotyping of candidate Gene loci identifies variants associated with high-density lipoprotein cholesterol, clinical perspective. Circ Cardiovasc Genet. 2011;4(2):145–55. · DOI
- Hegele RA, Ban MR, Cao H, AD MI, Robinson JF, Wang J. Targeted next-generation sequencing in monogenic dyslipidemias. Curr Opin Lipidol. 2015;26(2):103–13. · DOI
- Bolanos-Garcia VM, Miguel RN. On the structure and function of apolipoproteins: more than a family of lipid-binding proteins. Prog Biophys Mol Biol. 2003;83(1):47–68. · DOI
- Awan Z, Choi HY, Stitziel N, Ruel I, Bamimore MA, Husa R, et al. APOE p. Leu167del mutation in familial hypercholesterolemia. Atherosclerosis. 2013;231(2):218–22. · DOI
- Gautier T, Masson D, Jong MC, Duverneuil L, Le Guern N, Deckert V, et al. Apolipoprotein CI deficiency markedly augments plasma lipoprotein changes mediated by human cholesteryl ester transfer protein (CETP) in CETP transgenic/ApoCI-knocked out mice. J Biol Chem. 2002;277(35):31354–63. · DOI
- Kamboh MI, Aston CE, Hamman RF. DNA sequence variation in human apolipoprotein C4 gene and its effect on plasma lipid profile. Atherosclerosis. 2000;152(1):193–201. · DOI
- Ridker PM, Paré G, Parker AN, Zee RY, Miletich JP, Chasman DI. Polymorphism in the CETP Gene region, HDL cholesterol, and risk of future myocardial infarction, clinical perspective, 2009. Circ Cardiovasc Genet. 2(1):26–33. · DOI
- Lanktree MB, Anand SS, Yusuf S, Hegele RA, SHARE Investigators. Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample. J Lipid Res. 2009;50(7):1487–96. · DOI
- Sorci-Thomas MG, Thomas MJ. The effects of altered apolipoprotein AI structure on plasma HDL concentration. Trends Cardiovasc Med. 2002 Apr 30;12(3):121–8. · DOI
- Arakawa R, Yokoyama S. Helical apolipoproteins stabilize ATP-binding cassette transporter A1 by protecting it from thiol protease-mediated degradation. J Biol Chem. 2002;277(25):22426–9. · DOI
- Stan S, Delvin E, Lambert M, Seidman E, Levy E. Apo A-IV: an update on regulation and physiologic functions. Biochim Biophys Acta Mol Cell Biol Lipids. 2003;1631(2):177–87. · DOI
- Lai CQ, Tai ES, Tan CE, Cutter J, Chew SK, Zhu YP, et al. The APOA5 locus is a strong determinant of plasma triglyceride concentrations across ethnic groups in Singapore. J Lipid Res. 2003;44(12):2365–73. · DOI
- Calandra S, Oliva CP, Tarugi P, Bertolini S. APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency. Curr Opin Lipidol. 2006;17(2):122–7. · DOI
- Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, et al. Genome-wide association study of hematological and biochemical traits in a Japanese population, 2010. Nat Genet. 42(3):210–5. · DOI
- Coram MA, Duan Q, Hoffmann TJ, Thornton T, Knowles JW, Johnson NA, et al. Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. Am J Hum Genet. 2013;92(6):904–16. · DOI
- Tailleux A, Duriez P, Fruchart JC, Clavey V. Apolipoprotein A-II, HDL metabolism and atherosclerosis. Atherosclerosis. 2002;164(1):1–13. · DOI
- Julve J, Rotllan N, Fiévet C, Vallez E, de la Torre C, Ribas V, et al. Human apolipoprotein A-II determines plasma triglycerides by regulating lipoprotein lipase activity and high-density lipoprotein proteome. Arterioscler Thromb Vasc Biol. 2010;30(2):232–8. · DOI
- Bandarian F, Daneshpour MS, Hedayati M, Naseri M, Azizi F. Identification of sequence variation in the Apolipoprotein A2 Gene and Their relationship with serum high-density lipoprotein cholesterol levels. Iran Biomed J. 2016;20(2):84–90.
- Chen SN, Cilingiroglu M, Todd J, Lombardi R, Willerson JT, Gotto AM, et al. Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. BMC Med Genet. 2009;10(1):111. · DOI
- Peloso GM, Demissie S, Collins D, Mirel DB, Gabriel SB, Cupples LA, et al. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease. J Lipid Res. 2010;51(12):3524–32. · DOI
- Lin KY, Pan JP, Yang DL, Huang KT, Chang MS, Ding PY, et al. Evidence for inhibition of low density lipoprotein oxidation and cholesterol accumulation by apolipoprotein H (β2-glycoprotein I). Life Sci. 2001;69(6):707–19. · DOI
- Asselbergs FW, Guo Y, Van Iperen EP, Sivapalaratnam S, Tragante V, Lanktree MB, et al. Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet. 2012;91(5):823–38. · DOI
- Guo T, Yin RX, Li H, Wang YM, Wu JZ, Yang DZ. Association of the Trp316Ser variant (rs1801690) near the apolipoprotein H (β2-glycoprotein-I) gene and serum lipid levels. Int J Clin Exp Pathol. 2015;8(6):7291.
- Borup A, Christensen PM, Nielsen LB, Christoffersen C. Apolipoprotein M in lipid metabolism and cardiometabolic diseases. Curr Opin Lipidol. 2015;26(1):48–55. · DOI
- Aung LH, Yin RX, Wu DF, Yan TT, Li Q, Wu JZ, et al. Association of the apolipoprotein M gene polymorphisms and serum lipid levels, 2013. Mol Biol Rep. 40(2):1843–53. · DOI
- Zhang Z, Chu G, Yin RX. Apolipoprotein M T-778C polymorphism is associated with serum lipid levels and the risk of coronary artery disease in the Chinese population: a meta-analysis. Lipids Health Dis. 2013;12(1):135. · DOI
- Cao B, Ye YZ, Rui J, Li MQ, Wang W, Wei LY, et al. A single-nucleotide polymorphism in the proximal promoter region of the apolipoprotein M gene is associated with dyslipidaemia but not increased coronary artery diseases in Chinese populations. Lipids Health Dis. 2013;12(1):184. · DOI
- Malaguarnera M, Vacante M, Russo C, Malaguarnera G, Antic T, Malaguarnera L, et al. Lipoprotein (a) in cardiovascular diseases. Biomed Res Int. 2012;2013:650989.
- Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat. 1992;1(6):445–66. · DOI · Paper page
- ClinVar (TM). National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). Available from http://www.ncbi.nlm.nih.gov/clinvar/ . Accessed 12 Jan 2017.
- Usifo E, Leigh SE, Whittall RA, Lench N, Taylor A, Yeats C, et al. Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet. 2012;76(5):387–401. · DOI
- Fellin R, Arca M, Zuliani G, Calandra S, Bertolini S. The history of autosomal recessive hypercholesterolemia (ARH). From clinical observations to gene identification. Gene. 2015;555(1):23–32. · DOI
- Beisiegel U, Weber W, Ihrke G, Herz J, Stanley KK. The LDL-receptor-related protein, LRP, is an apolipoprotein E-binding protein. Nature. 1989;341(6238):162–4. · DOI
- de Gonzalo-Calvo D, Cenarro A, Martínez-Bujidos M, Badimon L, Bayes-Genis A, Ordonez-Llanos J, et al. Circulating soluble low-density lipoprotein receptor-related protein 1 (sLRP1) concentration is associated with hypercholesterolemia: a new potential biomarker for atherosclerosis. Int J Cardiol. 2015;201:20–9. · DOI
- Aledo R, Alonso R, Mata P, Llorente-Cortés V, Padró T, Badimon L. LRP1 gene polymorphisms are associated with premature risk of cardiovascular disease in patients with familial hypercholesterolemia. Rev Esp Cardiol (English ed). 2012;65(9):807–12. · DOI
- Kounnas MZ, Chappell DA, Strickland DK, Argraves WS. Glycoprotein 330, a member of the low density lipoprotein receptor family, binds lipoprotein lipase in vitro. J Biol Chem. 1993;268(19):14176–81. · DOI
- Nykjaer A, Nielsen M, Lookene A, Meyer N, Røigaard H, Etzerodt M, et al. A carboxyl-terminal fragment of lipoprotein lipase binds to the low density lipoprotein receptor-related protein and inhibits lipase-mediated uptake of lipoprotein in cells. J Biol Chem. 1994;269(50):31747–55. · DOI · Paper page
- Kounnas MZ, Argraves WS, Strickland DK. The 39-kDa receptor-associated protein interacts with two members of the low density lipoprotein receptor family, alpha 2-macroglobulin receptor and glycoprotein 330. J Biol Chem. 1992;267(29):21162–6. · DOI · Paper page
- González P, Alvarez R, Reguero JR, Batalla A, Alvarez V, Cortina A, et al. Variation in the lipoprotein receptor-related protein, alpha2-macroglobulin and lipoprotein receptor-associated protein genes in relation to plasma lipid levels and risk of early myocardial infarction. Coron Artery Dis. 2002;13(5):251–4. · DOI
- Argraves KM, Battey FD, CD MC, KR MC, Gåfvels M, Kozarsky KF, et al. The very low density lipoprotein receptor mediates the cellular catabolism of lipoprotein lipase and urokinase-plasminogen activator inhibitor type I complexes. J Biol Chem. 1995;270(44):26550–7. · DOI
- Chen X, Guo Z, Okoro EU, Zhang H, Zhou L, Lin X, et al. Up-regulation of ATP binding cassette transporter A1 expression by very low density lipoprotein receptor and apolipoprotein E receptor 2. J Biol Chem. 2012;287(6):3751–9. · DOI
- Rhainds D, Brissette L. The role of scavenger receptor class B type I (SR-BI) in lipid trafficking: defining the rules for lipid traders. Int J Biochem Cell Biol. 2004;36(1):39–77. · DOI
- Yang XP, Amar MJ, Vaisman B, Bocharov AV, Vishnyakova TG, Freeman LA, et al. Scavenger receptor-BI is a receptor for lipoprotein (a). J Lipid Res. 2013;54(9):2450–7. · DOI · Paper page
- Armstrong SM, Sugiyama MG, Fung KY, Gao Y, Wang C, Levy AS, et al. A novel assay uncovers an unexpected role for SR-BI in LDL transcytosis. Cardiovasc Res. 2015;108(2):268–77. · DOI
- Roberts CG, Shen H, Mitchell BD, Damcott CM, Shuldiner AR, Rodriguez A. Variants in scavenger receptor class B type I gene are associated with HDL cholesterol levels in younger women. Hum Hered. 2007;64(2):107–13. · DOI
- Wu DF, Yin RX, Hu XJ, Aung LH, Cao XL, Miao L, et al. Association of rs5888 SNP in the scavenger receptor class B type 1 gene and serum lipid levels. Lipids Health Dis. 2012;11(1):50. · DOI
- Wu DF, Yin RX, Cao XL, Chen WX, Aung LH, Wang W, et al. Scavenger receptor class B type 1 gene rs5888 single nucleotide polymorphism and the risk of coronary artery disease and ischemic stroke: a case–control study. Int J Med Sci. 2013;10(12):1771–7. · DOI
- Stanislovaitiene D, Lesauskaite V, Zaliuniene D, Smalinskiene A, Gustiene O, Zaliaduonyte-Peksiene D, et al. SCARB1 single nucleotide polymorphism (rs5888) is associated with serum lipid profile and myocardial infarction in an age-and gender-dependent manner. Lipids Health Dis. 2013;12(1):24. · DOI
- Niemsiri V, Wang X, Pirim D, Radwan ZH, Hokanson JE, Hamman RF, et al. Impact of genetic variants in human scavenger receptor class B type I (SCARB1) on plasma lipid traits. Circ Cardiovasc Genet. 2014;7(6):838–47. · DOI
- Niemsiri V, Wang X, Pirim D, Radwan ZH, Bunker CH, Barmada MM, et al. Genetic contribution of SCARB1 variants to lipid traits in African blacks: a candidate gene association study. BMC Med Genet. 2015;16(1):106. · DOI
- Mead JR, Irvine SA, Ramji DP. Lipoprotein lipase: structure, function, regulation, and role in disease. J Mol Med. 2002;80(12):753–69. · DOI
- Bruin TD, Mailly F, Barlingen HV, Fisher R, Cabezas MC, Talmud P, et al. Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia. Eur J Clin Investig. 1996;26(8):631–9. · DOI
- Wittekoek ME, Pimstone SN, Reymer PW, Feuth L, Botma GJ, Defesche JC, et al. A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia. Circulation. 1998;97(8):729–35. · DOI
- Wittekoek ME, Moll E, Pimstone SN, Trip MD, Lansberg PJ, Defesche JC, et al. A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 1999;19(11):2708–13. · DOI
- Kolářová H, Tesařová M, Švecová Š, Stránecký V, Přistoupilová A, Zima T, et al. Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene. Folia Biol. 2014;60(5):235–43. · DOI
- Heid IM, Boes E, Müller M, Kollerits B, Lamina C, Coassin S, et al. Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on Intergenic regions. Clinical perspective. Circ Cardiovasc Genet. 2008;1(1):10–20. · DOI
- Ma L, Yang J, Runesha HB, Tanaka T, Ferrucci L, Bandinelli S, et al. Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data. BMC Med Genet. 2010;11(1):55. · DOI
- Zabaneh D, Balding DJ. A genome-wide association study of the metabolic syndrome in Indian Asian men. PLoS One. 2010;5(8):e11961. doi: 10.1371/journal.pone.0011961 . · DOI
- Zhou L, He M, Mo Z, Wu C, Yang H, Yu D, et al. A genome wide association study identifies common variants associated with lipid levels in the Chinese population. PLoS One. 2013;8(12):e82420. · DOI
- Rousset X, Vaisman B, Amar M, Sethi AA, Remaley AT. Lecithin: cholesterol acyltransferase–from biochemistry to role in cardiovascular disease. Curr Opin Endocrinol Diabetes Obes. 2009;16(2):163–71. · DOI · Paper page
- Holleboom AG, Kuivenhoven JA, Peelman F, Schimmel AW, Peter J, Defesche JC, et al. High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations. Hum Mutat. 2011;32(11):1290–8. · DOI
- Naseri M, Hedayati M, Daneshpour MS, Bandarian F, Azizi F. Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL-C levels. Mol Med Rep. 2014;10(1):496–502. · DOI
- Chang TY, Chang CC, Lin S, Yu C, Li BL, Miyazaki A. Roles of acyl-coenzyme a: cholesterol acyltransferase-1 and-2. Curr Opin Lipidol. 2001;12(3):289–96. · DOI
- Klos KL, Sing CF, Boerwinkle E, Hamon SC, Rea TJ, Clark A, et al. Consistent effects of genes involved in reverse cholesterol transport on plasma lipid and apolipoprotein levels in CARDIA participants. Arterioscler Thromb Vasc Biol. 2006;26(8):1828–36. · DOI
- Wu DF, Yin RX, Aung LH, Hu XJ, Cao XL, Miao L, et al. Polymorphism of rs1044925 in the acyl-CoA: cholesterol acyltransferase-1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Lipids Health Dis. 2010;9(1):139. · DOI
- Santamarina-Fojo S, González-Navarro H, Freeman L, Wagner E, Nong Z. Hepatic lipase, lipoprotein metabolism, and atherogenesis. Arterioscler Thromb Vasc Biol. 2004;24(10):1750–4. · DOI
- Lindi V, Schwab U, Louheranta A, Vessby B, Hermansen K, Tapsell L, et al. The G-250A polymorphism in the hepatic lipase gene promoter is associated with changes in hepatic lipase activity and LDL cholesterol: the KANWU study. Nutr Metab Cardiovasc Dis. 2008;18(2):88–95. · DOI
- Johannsen TH, Kamstrup PR, Andersen RV, Jensen GB, Sillesen H, Tybjærg-Hansen A, et al. Hepatic lipase, genetically elevated high-density lipoprotein, and risk of ischemic cardiovascular disease. J Clin Endocrinol Metab. 2009;94(4):1264–73. · DOI
- Fan YM, Raitakari OT, Kähönen M, Hutri-Kähönen N, Juonala M, Marniemi J, et al. Hepatic lipase promoter C-480T polymorphism is associated with serum lipids levels, but not subclinical atherosclerosis: the cardiovascular risk in young Finns study. Clin Genet. 2009;76(1):46–53. · DOI
- Hodoğlugil U, Williamson DW, Mahley RW. Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population. J Lipid Res. 2010;51(2):422–30. · DOI
- Meng L, Ruixing Y, Yiyang L, Xingjiang L, Kela L, Wanying L, et al. Association of LIPC-250G> a polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Lipids Health Dis. 2010;9(1):28. · DOI
- Weissglas-Volkov D, Aguilar-Salinas CA, Nikkola E, Deere KA, Cruz-Bautista I, Arellano-Campos O, et al. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. J Med Genet. 2013;50(5):298–308. · DOI
- Strauss JG, Zimmermann R, Hrzenjak A, Yonggang ZH, Kratky D, Levak-Frank S, et al. Endothelial cell-derived lipase mediates uptake and binding of high-density lipoprotein (HDL) particles and the selective uptake of HDL-associated cholesterol esters independent of its enzymic activity. Biochem J. 2002;368(1):69–79. · DOI
- Cohen JC. Endothelial lipase: direct evidence for a role in HDL metabolism. J Clin Invest. 2003;111(3):318–21. · DOI
- Broedl UC, Maugeais C, Millar JS, Jin W, Moore RE, Fuki IV, et al. Endothelial lipase promotes the catabolism of ApoB-containing lipoproteins. Circ Res. 2004;94(12):1554–61. · DOI · Paper page
- Singaraja RR, Sivapalaratnam S, Hovingh K, Dubé MP, Castro-Perez J, Collins HL, et al. The impact of partial and complete loss-of-function mutations in endothelial lipase on high-density lipoprotein levels and functionality in humans, clinical perspective. Circ Cardiovasc Genet. 2013;6(1):54–62. · DOI
- Brown RJ, Edmondson AC, Griffon N, Hill TB, Fuki IV, Badellino KO, et al. A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis. J Lipid Res. 2009;50(9):1910–6. · DOI
- Liu WY, Yin RX, Zhang L, Cao XL, Miao L, Wu DF, et al. Association of the LIPG 584C> T polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Lipids Health Dis. 2010;9(1):110. · DOI
- Cai G, Huang Z, Zhang B, Weng W, Shi G. The associations between endothelial lipase 584C/T polymorphism and HDL-C level and coronary heart disease susceptibility: a meta-analysis. Lipids Health Dis. 2014;13(1):85. · DOI
- Wang F, Wang W, Wähälä K, Adlercreutz H, Ikonen E, Tikkanen MJ. Role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters. Am J Physiol Endocrinol Metab. 2008;295(6):e1455–61. · DOI
- Fouchier SW, Defesche JC. Lysosomal acid lipase a and the hypercholesterolaemic phenotype. Curr Opin Lipidol. 2013;24(4):332–8. · DOI
- Muntoni S, Wiebusch H, Jansen-Rust M, Rust S, Schulte H, Berger K, et al. Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations. Nutr Metab Cardiovasc Dis. 2013;23(8):732–6. · DOI
- Vargas-Alarcón G, Posadas-Romero C, Villarreal-Molina T, Alvarez-León E, Angeles J, Vallejo M, et al. Single nucleotide polymorphisms within LIPA (Lysosomal acid lipase a) gene are associated with susceptibility to premature coronary artery disease. A replication in the genetic of atherosclerotic disease (GEA) Mexican study. PLoS One. 2013;8(9):e74703. · DOI
- Buhaescu I, Izzedine H. Mevalonate pathway: a review of clinical and therapeutical implications. Clin Biochem. 2007;40(9):575–84. · DOI · Paper page
- Akadam-Teker B, Kurnaz O, Coskunpinar E, Daglar-Aday A, Kucukhuseyin O, Cakmak HA, et al. The effects of age and gender on the relationship between HMGCR promoter-911 SNP (rs33761740) and serum lipids in patients with coronary heart disease. Gene. 2013;528(2):93–8. · DOI
- Bhanushali AA, Contractor A, Das BR. Transl res. Evaluation of the promoter polymorphism -911C>a in the 3-hydroxy-3-methylglutaryl-coenzyme a reductase gene with coronary artery disease risk and cholesterol levels in a population from Western India. Transl Res. 2012;160(6):445–6. · DOI
- Burkhardt R, Kenny EE, Lowe JK, Birkeland A, Josowitz R, Noel M, et al. Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. Arterioscler Thromb Vasc Biol. 2008;28(11):2078–84. · DOI
- Fogarty MP, Xiao R, Prokunina-Olsson L, Scott LJ, Mohlke KL. Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. Hum Mol Genet. 2010;19(10):1921–9. · DOI
- Pullinger CR, Eng C, Salen G, Shefer S, Batta AK, Erickson SK, et al. Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest. 2002;110(1):109–17. · DOI
- Liao YC, Lin HF, Rundek T, Cheng R, Hsi E, Sacco RL, et al. Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics. Clin Biochem. 2008;41(4):306–12. · DOI
- Cai Q, Wang ZQ, Cai Q, Li C, Chen EZ, Jiang ZY. Relationship between CYP7A1-204A> C polymorphism with gallbladder stone disease and serum lipid levels: a meta-analysis. Lipids Health Dis. 2014;13(1):126. · DOI
- Li Q, Hong J, Wu J, Huang ZX, Li QJ, Yin RX, et al. The role of common variants of ABCB1 and CYP7A1 genes in serum lipid levels and lipid-lowering efficacy of statin treatment: a meta-analysis. J Clin Lipidol. 2014;8(6):618–29. · DOI
- Glaser C, Heinrich J, Koletzko B. Role of FADS1 and FADS2 polymorphisms in polyunsaturated fatty acid metabolism. Metabolism. 2010;59(7):993–9. · DOI
- Nakayama K, Bayasgalan T, Tazoe F, Yanagisawa Y, Gotoh T, Yamanaka K, et al. A single nucleotide polymorphism in the FADS1/FADS2 gene is associated with plasma lipid profiles in two genetically similar Asian ethnic groups with distinctive differences in lifestyle. Hum Genet. 2010;127(6):685–90. · DOI
- Kwak JH, Paik JK, Kim OY, Jang Y, Lee SH, Ordovas JM, et al. FADS gene polymorphisms in Koreans: association with ω6 polyunsaturated fatty acids in serum phospholipids, lipid peroxides, and coronary artery disease. Atherosclerosis. 2011;214(1):94–100. · DOI
- Standl M, Lattka E, Stach B, Koletzko S, Bauer CP, von Berg A, et al. FADS1 FADS2 gene cluster, PUFA intake and blood lipids in children: results from the GINIplus and LISAplus studies. PLoS One. 2012;7(5):e37780. · DOI
- Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet. 2014;94(2):233–45. · DOI
- Yang LI, Qian GA, Zhang X, Huang L, Kui XU, Hu YQ, et al. PNPLA5-knockout rats induced by CRISPR/Cas9 exhibit abnormal bleeding and lipid level. J Integr Agr. 2017;16(1):169–80. · DOI
- Dean M, Hamon Y, Chimini G. The human ATP-binding cassette (ABC) transporter superfamily. J Lipid Res. 2001;42(7):1007–17. · DOI · Paper page
- Jones PM, George AM. The ABC transporter structure and mechanism: perspectives on recent research. Cell Mol Life Sci. 2004;61(6):682–99. · DOI
- Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet. 2001;27(1):79–83. · DOI
- Small DM. Role of ABC transporters in secretion of cholesterol from liver into bile. Proc Natl Acad Sci. 2003;100(1):4–6. · DOI
- Garcia-Rios A, Perez-Martinez P, Fuentes F, Mata P, Lopez-Miranda J, Alonso R, et al. Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. Atherosclerosis. 2010;210(2):486–92. · DOI
- Caamano JM, Pacheco A, Lanas F, Salazar LA. Single nucleotide polymorphisms in ABCG5 and ABCG8 genes in Chilean subjects with polygenic hypercholesterolemia and controls. Clin Chem Lab Med. 2008;46(11):1581–5. · DOI
- Chen ZC, Shin SJ, Kuo KK, Lin KD, Yu ML, Hsiao PJ. Significant association of ABCG8: D19H gene polymorphism with hypercholesterolemia and insulin resistance. J Hum Genet. 2008;53(8):757–63. · DOI
- Rudkowska I, Jones PJ. Polymorphisms in ABCG5/G8 transporters linked to hypercholesterolemia and gallstone disease. Nutr Rev. 2008;66(6):343–8. · DOI
- Li Q, Wei XL, Yin RX. Association of ATP binding cassette transporter G8 rs4148217 SNP and serum lipid levels in Mulao and Han nationalities. Lipids Health Dis. 2012;11(1):46. · DOI
- Kaminski WE, Piehler A, Wenzel JJ. ABC A-subfamily transporters: structure, function and disease. Biochim Biophys Acta Mol basis Dis. 2006;1762(5):510–24. · DOI
- Yvan-Charvet L, Wang N, Tall AR. Role of HDL, ABCA1, and ABCG1 transporters in cholesterol efflux and immune responses. Arterioscler Thromb Vasc Biol. 2010;30(2):139–43. · DOI
- Zago VH, Scherrer DZ, Parra ES, Panzoldo NB, Alexandre F, Nakandakare ER, et al. Association between ABCG1 polymorphism rs1893590 and high-density lipoprotein (HDL) in an asymptomatic Brazilian population. Mol Biol Rep. 2015;42(3):745–54. · DOI
- Thompson R, Strautnieks S. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis. 2001;21:545–50. · DOI
- Andreotti G, Menashe I, Chen J, Chang SC, Rashid A, Gao YT, et al. Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in shanghai, China. Eur J Epidemiol. 2009;24(12):763–74. · DOI
- Elferink RP, Paulusma CC. Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein). Pflugers Arch. 2007;453(5):601–10. · DOI
- Acalovschi M, Tirziu S, Chiorean E, Krawczyk M, Grünhage F, Lammert F. Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls. Lipids. 2009;44(6):521–6. · DOI
- Nies AT, Keppler D. The apical conjugate efflux pump ABCC2 (MRP2). Pflugers Arch. 2007;453(5):643–59. · DOI
- Motazacker MM, Peter J, Treskes M, Shoulders CC, Kuivenhoven JA, Hovingh GK. Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels significance. Arterioscler Thromb Vasc Biol. 2013;33(7):1521–8. · DOI
- Pomozi V, Le Saux O, Brampton C, Apana A, Iliás A, Szeri F, et al. ABCC6 is a basolateral plasma membrane protein. Circ Res. 2013;112(11):e148–51. · DOI
- Kuzaj P, Kuhn J, Dabisch-Ruthe M, Faust I, Götting C, Knabbe C, et al. ABCC6-a new player in cellular cholesterol and lipoprotein metabolism? Lipids Health Dis. 2014;13(1):118. · DOI
- Tsuruoka S, Ishibashi K, Yamamoto H, Wakaumi M, Suzuki M, Schwartz GJ, et al. Functional analysis of ABCA8, a new drug transporter. Biochem Biophys Res Commun. 2002;298(1):41–5. · DOI
- Jia L, Betters JL, Yu L. Niemann-pick C1-like 1 (NPC1L1) protein in intestinal and hepatic cholesterol transport. Annu Rev Physiol. 2011;73:239–59. · DOI · Paper page
- Cohen JC, Pertsemlidis A, Fahmi S, Esmail S, Vega GL, Grundy SM, et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Nat Acad Sci USA. 2006;103(6):1810–5. · DOI
- Polisecki E, Peter I, Simon JS, Hegele RA, Robertson M, Ford I, et al. Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly. J Lipid Res. 2010;51(5):1201–7. · DOI
- Martín B, Solanas-Barca M, García-Otín ÁL, Pampín S, Cofán M, Ros E, et al. An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia. Nutr Metab Cardiovasc Dis. 2010;20(4):236–42. · DOI
- Miao L, Yin RX, Hu XJ, Wu DF, Cao XL, Li Q, et al. Association of rs2072183 SNP and serum lipid levels in the Mulao and Han populations. Lipids Health Dis. 2012;11(1):61. · DOI
- Barter PJ, Brewer HB, Chapman MJ, Hennekens CH, Rader DJ, Tall AR. Cholesteryl ester transfer protein. Arterioscler Thromb Vasc Biol. 2003;23(2):160–7. · DOI
- de Grooth GJ, Smilde TJ, van Wissen S, Klerkx AH, Zwinderman AH, Fruchart JC, et al. The relationship between cholesteryl ester transfer protein levels and risk factor profile in patients with familial hypercholesterolemia. Atherosclerosis. 2004;173(2):261–7. · DOI
- Hogue JC, Lamarche B, Gaudet D, Larivière M, Tremblay AJ, Bergeron J, et al. Relationship between cholesteryl ester transfer protein and LDL heterogeneity in familial hypercholesterolemia. J Lipid Res. 2004;45(6):1077–83. · DOI
- Hiura Y, Shen CS, Kokubo Y, Okamura T, Morisaki T, Tomoike H, et al. Identification of genetic markers associated with high-density lipoprotein-cholesterol by genome-wide screening in a Japanese population. Circulation. 2009;73(6):1119–26. · DOI
- Ko A, Cantor RM, Weissglas-volkov D, Nikkola E, Reddy PM, Sinsheimer JS, et al. Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. Nat Commun. 2014;5:3983. · DOI
- Albers JJ, Vuletic S, Cheung MC. Role of plasma phospholipid transfer protein in lipid and lipoprotein metabolism. Biochim Biophys Acta Mol Cell Biol Lipids. 2012;1821(3):345–57. · DOI
- Aouizerat BE, Engler MB, Natanzon Y, Kulkarni M, Song J, Eng C, et al. Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemia. J Lipid Res. 2006;47(4):787–93. · DOI
- Engler MB, Pullinger CR, Malloy MJ, Natanzon Y, Kulkarni MV, Song J, et al. Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. Metabolism. 2008;57(12):1719–24. · DOI
- Raychaudhuri S, Prinz WA. The diverse functions of oxysterol-binding proteins. Annu Rev Cell Dev Biol. 2010;26:157–77. · DOI
- Zhang M, Liu P, Dwyer NK, Christenson LK, Fujimoto T, Martinez F, et al. MLN64 mediates mobilization of lysosomal cholesterol to steroidogenic mitochondria. J Biol Chem. 2002;277(36):33300–10. · DOI
- Seidah NG, Mayer G, Zaid A, Rousselet E, Nassoury N, Poirier S, et al. The activation and physiological functions of the proprotein convertases. Int J Biochem Cell Biol. 2008;40(6):1111–25. · DOI · Paper page
- Horton JD, Cohen JC, Hobbs HH. PCSK9: a convertase that coordinates LDL catabolism. J Lipid Res. 2009;50(Suppl):172–7. · DOI · Paper page
- Jin W, Wang X, Millar JS, Quertermous T, Rothblat GH, Glick JM, et al. Hepatic proprotein convertases modulate HDL metabolism. Cell Metab. 2007;6:129–36. · DOI · Paper page
- Iatan I, Dastani Z, Do R, Weissglas-Volkov D, Ruel I, Lee JC, et al. Genetic variation at the Proprotein Convertase Subtilisin/Kexin type 5 Gene modulates high-density lipoprotein cholesterol levels. Clinical perspective. Circ Cardiovasc Genet. 2009;2(5):467–75. · DOI
- Brown MS, Goldstein JL. The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor. Cell. 1997;89(3):331–40. · DOI · Paper page
- Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S. A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism. Science. 2011;333(6038):87–90. · DOI
- Willnow TE, Kjølby M, Nykjaer A. Sortilins: new players in lipoprotein metabolism. Curr Opin Lipidol. 2011;22(2):79-85. · DOI
- Kleber ME, Renner W, Grammer TB, Linsel-Nitschke P, Boehm BO, Winkelmann BR, et al. Association of the single nucleotide polymorphism rs599839 in the vicinity of the sortilin 1 gene with LDL and triglyceride metabolism, coronary heart disease and myocardial infarction: the Ludwigshafen risk and cardiovascular Health study. Atherosclerosis. 2010;209(2):492–7. · DOI
- Zhou YJ, Hong SC, Yang Q, Yin RX, Cao XL, Chen WX. Association of variants in CELSR2-PSRC1-SORT1 with risk of serum lipid traits, coronary artery disease and ischemic stroke. Int J Clin Exp Pathol. 2015;8(8):9543.
- Meroufel DN, Mediene-Benchekor S, Lardjam-Hetraf SA, Ouhaïbi-Djellouli H, Boulenouar H, Hamani-Medjaoui I, et al. Associations of common SNPs in the SORT1, GCKR, LPL, APOA1, CETP, LDLR, APOE genes with lipid trait levels in an Algerian population sample. Int J Clin Exp Pathol 2015;8(6):7358.
- Arvind P, Nair J, Jambunathan S, Kakkar VV, Shanker J. CELSR2–PSRC1–SORT1 gene expression and association with coronary artery disease and plasma lipid levels in an Asian Indian cohort. J Cardiol. 2014;64(5):339–46. · DOI
- Nakayama K, Bayasgalan T, Yamanaka K, Kumada M, Gotoh T, Utsumi N, et al. Large scale replication analysis of loci associated with lipid concentrations in a Japanese population. J Med Genet. 2009;46(6):370–4. · DOI
- Shirts BH, Hasstedt SJ, Hopkins PN, Hunt SC. Evaluation of the gene–age interactions in HDL cholesterol, LDL cholesterol, and triglyceride levels: the impact of the SORT1 polymorphism on LDL cholesterol levels is age dependent. Atherosclerosis. 2011;217(1):139–41. · DOI
- Karlos A, Shearer J, Gnatiuk E, Onyewu C, Many G, Hoffman EP, et al. Effect of the SORT1 low-density lipoprotein cholesterol locus is sex-specific in a fit, Canadian young-adult population. Appl Pysiol Nutr Metab. 2012;38(2):188–93. · DOI
- Zhang R. The ANGPTL3-4-8 model, a molecular mechanism for triglyceride trafficking. Open Biol. 2016;6(4):150272. · DOI
- Shimamura M, Matsuda M, Yasumo H, Okazaki M, Fujimoto K, Kono K, et al. Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase. Arterioscler Thromb Vasc Biol. 2007;27(2):366–72. · DOI · Paper page
- Nakajima K, Kobayashi J, Mabuchi H, Nakano T, Tokita Y, Nagamine T, et al. Association of angiopoietin-like protein 3 with hepatic triglyceride lipase and lipoprotein lipase activities in human plasma. Ann Clin Biochem. 2010;47(5):423–31. · DOI
- Legry V, Bokor S, Cottel D, Beghin L, Catasta G, Nagy E, et al. Associations between common genetic polymorphisms in angiopoietin-like proteins 3 and 4 and lipid metabolism and adiposity in European adolescents and adults. J Clin Endocrinol Metab. 2009;94(12):5070–7. · DOI
- Hanson RL, Leti F, Tsinajinnie D, Kobes S, Puppala S, Curran JE, et al. The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3. Mol Gen Metab. 2016;118(2):128–37. · DOI
- Guo T, Yin RX, Wu J, Lin QZ, Shi GY, Shen SW, et al. Association of the angiopoietin-like protein 8 rs2278426 polymorphism and several environmental factors with serum lipid levels. Mol Med Rep. 2015;12(3):3285–96. · DOI
- Romeo S, Pennacchio LA, Fu Y, Boerwinkle E, Tybjaerg-Hansen A, Hobbs HH, et al. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet. 2007;39(4):513–6. · DOI · Paper page
- Folsom AR, Peacock JM, Demerath E, Boerwinkle E. Variation in ANGPTL4 and risk of coronary heart disease: the atherosclerosis risk in communities study. Metabolism. 2008;57(11):1591–6. · DOI · Paper page
- Nettleton JA, Volcik KA, Hoogeveen RC, Boerwinkle E. Carbohydrate intake modifies associations between ANGPTL4 [E40K] genotype and HDL-cholesterol concentrations in white men from the atherosclerosis risk in communities (ARIC) study. Atherosclerosis. 2009;203(1):214–20. · DOI
- Namkung J, Koh SB, Kong ID, Choi JW, Yeh BI. Serum levels of angiopoietin-related growth factor are increased in metabolic syndrome. Metabolism. 2011;60(4):564–8. · DOI
- Oike Y, Akao M, Yasunaga K, Yamauchi T, Morisada T, Ito Y, et al. Angiopoietin-related growth factor antagonizes obesity and insulin resistance. Nat Med. 2005;11(4):400–8. · DOI · Paper page
- Katrine TB, Vester-Christensen MB, Bennett EP, Levery SB, Schwientek T, Yin W, et al. O-Glycosylation modulates Proprotein Convertase activation of Angiopoietin-like protein 3. Possible role of polypeptide GalNAc-transferase-2 in regulation of concentrations of plasma lipids. J Biol Chem. 2010;285(47):36293–303. · DOI
- Tai ES, Sim XL, Ong TH, Wong TY, Saw SM, Aung T, et al. Polymorphisms at newly identified lipid-associated loci are associated with blood lipids and cardiovascular disease in an Asian Malay population. J Lipid Res. 2009;50(3):514–20. · DOI
- Weissglas-Volkov D, Aguilar-Salinas CA, Sinsheimer JS, Riba L, Huertas-Vazquez A, Ordoñez-Sánchez ML, et al. Investigation of variants identified in Caucasian genome-wide association studies for plasma HDL cholesterol and triglycerides levels in Mexican dyslipidemic study samples. Circ Cardiovasc Genet. 2010;3(1):31–8. · DOI
- Li Q, Yin RX, Yan TT, Miao L, Cao XL, Hu XJ, et al. Association of the GALNT2 gene polymorphisms and several environmental factors with serum lipid levels in the Mulao and Han populations. Lipids Health Dis. 2011;10(1):160. · DOI
- Guo T, Yin RX, Lin WX, Wang W, Huang F, Pan SL. Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia. J Cell Mol Med. 2016;20(2):243–65. · DOI
- Yan TT, Yin RX, Li Q, Huang P, Zeng XN, Huang KK, et al. Association of MYLIP rs3757354 SNP and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Lipids Health Dis. 2012;11(1):141. · DOI
- Dhyani A, Tibolla G, Baragetti A, Garlaschelli K, Pellegatta F, Grigore L, et al. IDOL N342S variant, atherosclerosis progression and cardiovascular disorders in the Italian general population. PLoS One. 2015;10(4):e0122414. · DOI
- Raimondo A, Rees MG, Gloyn AL. Glucokinase regulatory protein: complexity at the crossroads of triglyceride and glucose metabolism. Curr Opin Lipidol. 2015;26(2):88. · DOI · Paper page
- Tracz A, Madzio J, Gnys P, Malachowska B, Borowiec M, Wyka K, et al. Genetic variability of GCKR alters lipid profiles in children with monogenic and autoimmune diabetes. Exp Clin Endocrinol Diabetes. 2014;122(09):503–9. · DOI
- Lee HJ, Jang HB, Kim HJ, Ahn Y, Hong KW, Cho SB, et al. The dietary monounsaturated to saturated fatty acid ratio modulates the genetic effects of GCKR on serum lipid levels in children. Clin Chim Acta. 2015;450:155–61. · DOI
- Zhao Y, Ma Y, Fang Y, Liu L, Wu S, Fu D, et al. Association between PON1 activity and coronary heart disease risk: a meta-analysis based on 43 studies. Mol Gen Metab. 2012;105(1):141–8. · DOI
- Lahiry P, Ban MR, Pollex RL, Sawyez CG, Huff MW, Young TK, et al. Common variants APOC3, APOA5, APOE and PON1 are associated with variation in plasma lipoprotein traits in Greenlanders. Int J Circumpolar Health. 2007;66(5):390–400. · DOI
- van Himbergen TM, van Tits LJ, Ter Avest E, Roest M, Voorbij HA, de Graaf J, et al. Paraoxonase (PON1) is associated with familial combined hyperlipidemia. Atherosclerosis. 2008;199(1):87–94. · DOI
- Pérez-Herrera N, May-Pech C, Hernández-Ochoa I, Castro-Mañé J, Rojas-García E, Borja-Aburto VH, et al. PON1Q192R polymorphism is associated with lipid profile in Mexican men with Mayan ascendancy. Exp Mol Pathol. 2008;85(2):129–34. · DOI
- Chang MH, Yesupriya A, Ned RM, Mueller PW, Dowling NF. Genetic variants associated with fasting blood lipids in the US population: third National Health and nutrition examination survey. BMC Med Genet. 2010;11(1):62. · DOI
- Scherrer DZ, Zago VH, Vieira IC, Parra ES, Panzoldo NB, Alexandre F, et al. P.Q192R SNP of PON1 seems not to be associated with carotid atherosclerosis risk factors in an asymptomatic and Normolipidemic Brazilian population sample. Arq Bras Cardiol. 2015;105(1):45–52.
- Yan TT, Yin RX, Li Q, Huang P, Zeng XN, Huang KK, et al. Sex-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels in the Mulao and Han populations. Lipids Health Dis. 2011;10(1):248. · DOI
- Lin CY, Huang ZH, Mazzone T. Interaction with proteoglycans enhances the sterol efflux produced by endogenous expression of macrophage apoE. J Lipid Res. 2001;42(7):1125–33. · DOI
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Metadata
- Authors
- Paththinige, C., Sirisena, N., & Dissanayake, V.
- ORCID
- Paththinige, CS
- Venue
- Lipids in Health and Disease
- Published
- 2017-06-02
- Volume
- 16
- Issue
- 1
- ISSN
- 1476-511X
- PMC
- PMC5457620
- Cited by
- 118
- References
- 18
- Language
- en
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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