대한의생명과학회지 (Biomedical Science Letters)

  • 제20권4호
  • /
  • Pages.221-226
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  • 2014
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  • 1738-3226(pISSN)
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  • 2288-7415(eISSN)
대한의생명과학회 (The Korean Society for Biomedical Laboratory Sciences)
권호 표지
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Lipoprotein Lipase Polymorphism rs10503669 is Associated with High-density Lipoprotein Cholesterol Levels in Korean Population

  • Sull, Jae Woong (Department of Biomedical Laboratory Science, College of Health Sciences, Eulji University) ;
  • Eom, Yong-Bin (Department of Biomedical Laboratory Science, College of Medical Sciences, Soonchunhyang University) ;
  • Jee, Sun Ha (Department of Epidemiology and Health Promotion, Institute for Health Promotion, Graduate School of Public Health, Yonsei University)
  • 투고 : 2014.11.07
  • 심사 : 2014.12.17
  • 발행 : 2014.12.31
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초록

High-density lipoprotein (HDL) cholesterol levels are associated with decreased risk of coronary artery disease. Several genome-wide association studies (GWAS) for HDL cholesterol levels have implicated Lipoprotein lipase (LPL) as possibly being causal. Herein, the association between single nucleotide polymorphism (SNP) rs10503669 in the LPL gene and HDL cholesterol levels and triglyceride levels was tested in the Korean population. A total of 994 subjects from Seoul City were included in a replication study with LPL SNP rs10503669. SNP rs10503669 in the LPL gene was associated with mean HDL cholesterol levels (effect per allele 3.13 mg/dL, P<0.0001) and triglyceride levels (effect per allele -18.0 mg/dL, P=0.0026). Subjects with the CA/AA genotype had a 0.42-fold (range 0.23~0.77-fold) lower risk of having abnormal HDL cholesterol levels (<40 mg/dL) than subjects with the CC genotype. When analyzed by gender, the association of LPL was stronger in men than in women. This study clearly demonstrates that genetic variants in LPL influence HDL cholesterol levels and triglyceride levels in Korean adults.

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참고문헌

  1. Ahmad T, Chasman DI, Buring JE, Lee IM, Ridker PM, Everett BM. Physical activity modifies the effect of LPL, LIPC, and CETP polymorphisms on HDL-C levels and the risk of myocardial infarction in women of European ancestry. Circ Cardiovasc Genet. 2011. 4: 74-80. https://doi.org/10.1161/CIRCGENETICS.110.957290
  2. Assmann G, Gotto AM Jr. HDL cholesterol and protective factors in atherosclerosis. Circulation. 2004. 109: III8-III14.
  3. Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, Pramstaller PP, Penninx BW, Janssens AC, Wilson JF, Spector T, Martin NG, Pedersen NL, Kyvik KO, Kaprio J, Hofman A, Freimer NB, Jarvelin MR, Gyllensten U, Campbell H, Rudan I, Johansson A, Marroni F, Hayward C, Vitart V, Jonasson I, Pattaro C, Wright A, Hastie N, Pichler I, Hicks AA, Falchi M, Willemsen G, Hottenga JJ, de Geus EJ, Montgomery GW, Whitfield J, Magnusson P, Saharinen J, Perola M, Silander K, Isaacs A, Sijbrands EJ, Uitterlinden AG, Witteman JC, Oostra BA, Elliott P, Ruokonen A, Sabatti C, Gieger C, Meitinger T, Kronenberg F, Doring A, Wichmann HE, Smit JH, McCarthy MI, van Duijn CM, Peltonen L. ENGAGE Consortium. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet. 2009. 41: 47-55. https://doi.org/10.1038/ng.269
  4. Deeb SS, Peng RL. Structure of the human lipoprotein lipase gene. Biochemistry. 1989. 28: 4131-4135. https://doi.org/10.1021/bi00436a001
  5. Monsalve MV, Henderson H, Roederer G, Julien P, Deeb S, Kastelein JJ, Peritz L, Devlin R, Bruin T, Murthy MR. A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J Clin Invest. 1990. 86: 728-734. https://doi.org/10.1172/JCI114769
  6. Go MJ, Hwang JY, Kim DJ, Lee HJ, Jang HB, Park KH, Song J, Lee JY. Effect of genetic predisposition on blood lipid traits using cumulative risk assessment in the korean population. Genomics Inform. 2012. 10: 99-105. https://doi.org/10.5808/GI.2012.10.2.99
  7. Goldberg IJ. Lipoprotein lipase and lipolysis: central roles in lipoprotein metabolism and atherogenesis. J Lipid Res. 1996. 37: 693-707.
  8. Jee SH, Suh I, Kim IS, Appel LJ. Smoking and atherosclerotic cardiovascular disease in men with low levels of serum cholesterol: the Korea Medical Insurance Corporation Study. JAMA. 1999. 282: 2149-2155. https://doi.org/10.1001/jama.282.22.2149
  9. Jee SH, Sull JW, Lee JE, Shin C, Park J, Kimm H, Cho EY, Shin ES, Yun JE, Park JW, Kim SY, Lee SJ, Jee EJ, Baik I, Kao L, Yoon SK, Jang Y, Beaty TH. Adiponectin concentrations: a genome-wide association study. Am J Hum Genet. 2010. 87: 545-552. https://doi.org/10.1016/j.ajhg.2010.09.004
  10. Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, Berglund G, Vartiainen E, Jousilahti P, Hedblad B, Taskinen MR, Newton-Cheh C, Salomaa V, Peltonen L, Groop L, Altshuler DM, Orho-Melander M. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet. 2008. 40: 189-197. https://doi.org/10.1038/ng.75
  11. Kim YJ, Go MJ, Hu C, Hong CB, Kim YK, Lee JY, Hwang JY, Oh JH, Kim DJ, Kim NH, Kim S, Hong EJ, Kim JH, Min H, Kim Y, Zhang R, Jia W, Okada Y, Takahashi A, Kubo M, Tanaka T, Kamatani N, Matsuda K, MAGIC consortium, Park T, Oh B, Kimm K, Kang D, Shin C, Cho NH, Kim HL, Han BG, Lee JY, Cho YS. Large-scale genome-wide association studies in east Asians identify new genetic loci influencing metabolic traits. Nat Genet. 2011. 43: 990-995. https://doi.org/10.1038/ng.939
  12. Kooner JS, Chambers JC, Aguilar-Salinas CA, Hinds DA, Hyde CL, Warnes GR, Gomez Perez FJ, Frazer KA, Elliott P, Scott J, Milos PM, Cox DR, Thompson JF. Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. Nat Genet. 2008. 40: 149-151. https://doi.org/10.1038/ng.2007.61
  13. Lee J, Tan CS, Chia KS, Tan CE, Chew SK, Ordovas JM, Tai ES. The lipoprotein lipase S447X polymorphism and plasma lipids: interactions with APOE polymorphisms, smoking, and alcohol consumption. J Lipid Res. 2004. 45: 1132-1139. https://doi.org/10.1194/jlr.M400016-JLR200
  14. Mo X, Liu X, Wang L, Lu X, Chen S, Li H, Huang J, Chen J, Cao J, Li J, Tang Y, Gu D. Association of lipoprotein lipase polymorphism rs2197089 with serum lipid concentrations and LPL gene expression. J Hum Genet. 2013. 58: 160-164. https://doi.org/10.1038/jhg.2012.151
  15. Pekkanen J, Linn S, Heiss G, Suchindran CM, Leon A, Rifkind BM, Tyroler HA. Ten-year mortality from cardiovascular disease in relation to cholesterol level among men with and without preexisting cardiovascular disease. N Engl J Med. 1990. 322: 1700-1707. https://doi.org/10.1056/NEJM199006143222403
  16. Pyun JA, Kim S, Park K, Baik I, Cho NH, Koh I, Lee JY, Cho YS, Kim YJ, Go MJ, Shim E, Kwack K, Shin C. Interaction Effects of Lipoprotein Lipase Polymorphisms with Lifestyle on Lipid Levels in a Korean Population: A Cross-sectional Study. Genomics Inform. 2012. 10: 88-98. https://doi.org/10.5808/GI.2012.10.2.88
  17. Sabatti C, Service SK, Hartikainen AL, Pouta A, Ripatti S, Brodsky J, Jones CG, Zaitlen NA, Varilo T, Kaakinen M, Sovio U, Ruokonen A, Laitinen J, Jakkula E, Coin L, Hoggart C, Collins A, Turunen H, Gabriel S, Elliot P, McCarthy MI, Daly MJ, Jarvelin MR, Freimer NB, Peltonen L. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nat Genet. 2009. 41: 35-46. https://doi.org/10.1038/ng.271
  18. Suh I, Jee SH, Kim HC, Nam CM, Kim IS, Appel LJ. Low serum cholesterol and haemorrhagic stroke in men: Korea Medical Insurance Corporation Study. Lancet. 2011. 357: 922-925.
  19. Sull JW, Kim HJ, Yun JE, Kim G, Park EJ, Kim S, Lee HY, Jee SH. Serum adiponectin is associated with family history of diabetes independently of obesity and insulin resistance in healthy Korean men and women. Eur J Endocrinol. 2009. 160: 39-43. https://doi.org/10.1530/EJE-08-0603
  20. Teramoto T, Ohashi Y, Nakaya N, Yokoyama S, Mizuno K, Nakamura H. Practical risk prediction tools for coronary heart disease in mild to moderate hypercholesterolemia in Japan: Originated from the MEGA study data. Circ J. 2008. 72: 1569-1575. https://doi.org/10.1253/circj.CJ-08-0191
  21. Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, 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 JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, Konig IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC, Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Doring A, Dominiczak AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010. 466: 707-713. https://doi.org/10.1038/nature09270
  22. Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A, Albai G, Swift AJ, Morken MA, Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen WM, Li Y, Scott LJ, Scheet PA, Sundvall J, Watanabe RM, Nagaraja R, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Davey-Smith G, Shuldiner AR, Collins R, Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL, Abecasis GR. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet. 2008. 40: 161-169. https://doi.org/10.1038/ng.76
  23. Yoon SJ, Lee HS, Lee SW, Yun JE, Kim SY, Cho ER, Lee SJ, Jee EJ, Lee HY, Park J, Kim HS, Jee SH. The association between adiponectin and diabetes in the Korean population. Metabolism. 2008. 57: 853-857. https://doi.org/10.1016/j.metabol.2008.01.031