Common mutations of the lipoprotein lipase gene and their clinical significance

Current Atherosclerosis Reports

Volumn 1, Issue 1, 1999, Pages 70-78

  Gehrisch, Siegmund ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

Familial Combine Hyperlipidemia; Familial Hypercholesterolemia; Familial Hypercholesterolemia Patient; Lipoprotein Lipase; Lipoprotein Lipase Gene

Indexed keywords

LIPOPROTEIN LIPASE;

ALLELE; ARTERIOSCLEROSIS; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HUMAN; HYPERLIPIDEMIA; INTRON; MISSENSE MUTATION; MUTATION; REVIEW;

ALLELES; ARTERIOSCLEROSIS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; HYPERLIPIDEMIAS; INTRONS; LIPOPROTEIN LIPASE; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, GENETIC;

EID: 0033156993     PISSN: 15233804     EISSN: 15346242     Source Type: Journal    
DOI: 10.1007/s11883-999-0052-4     Document Type: Article

References (71)

1. Austin MA, Hokanson JE, Edwards KL: Hypertriglyceridemia as cardiovascular risk factor. Am J Cardiol 1998, 81:7B-12B. DOI: 10.1016/S0002-9149(98)00031-9
2. Grundy SM: Hypertriglyceridemia, atherogenic dyslipidemia, and the metabolic syndrome. Am J Cardiol 1998, 81:18B-25B. DOI: 10.1016/S0002-9149(98)00033-2
3. Assmann G, Schulte H, Funke H, von Eckardtstein A: The emergence of triglycerides as a significant independent risk factor in coronary artery disease. Eur Heart J 1998, 19:M8-M14.
4. Thompson GJ, Wilson PW: Clinical manifestation of coronary heart disease. In Coronary Risk Factors and Their Assessment. Edited by Thompson GJ, Wilson PW. London: Science Press; 1992:1–3.
5. Assmann G, Cullen P, Schulte H: The Muenster heart study (PROCAM): Results of follow-up at 8 years. Eur Heart J 1998, 19:A2-A11.
6. Jaross W, Assmann G, Bergmann S, DRECAN Team: Comparision of of risk factors for coronary heart disease in Dresden and Muenster. Eur J Epidemiol 1994, 10:307–315. DOI: 10.1007/BF01719355
7. Chait A, Brunzell JD: Chylomicronemia syndrome. Adv Intern Med 1991, 37:249–273.
8. Beisiegel U: Receptors for triglyceride-rich lipoproteins and their role in lipoprotein metabolism. Curr Opin Lipidol 1995, 6:117–122.
9. Santamarina-Fojo S, Dugi KA: Structure, function and role of lipoprotein lipase in lipoprotein metabolism. Curr Opin Lipidol 1994, 5:117–125. DOI: 10.1097/00041433-199404000-00008
10. Henderson AD, Richmond W, Elkeles RS: Hepatic and lipoprotein lipases selectively assayed in postheparin plasma. Clin Chem 1993, 39:218–223.
11. Olivecrona G, Olivecrona T: Triglyceride lipases and atherosclerosis. Curr Opin Lipidol 1995, 6:291–305. DOI: 10.1097/00041433-199510000-00009
12. Babirak SP, Brown BG, Brunzell JD: Familial combined hyperlipidemia and abnormal lipoprotein lipase. Arterioscler Thromb 1992, 12:1176–1183.
13. Seed M, Mailly F, Vallance D, et al.: Lipoprotein lipase activity in patients with combined hyperlipidemia. Clin Investigator 1994, 72:100–106.
14. Wion KL, Kirchgessner TG, Lusis AJ, et al.: Human lipoprotein lipase complementary DNA sequence. Science 1987, 235:1638–1641. DOI: 10.1126/science.3823907
15. Deeb SS, Peng R: Structure of the human lipoprotein lipase gene. Biochemistry 1989, 28:4131–4135. DOI: 10.1021/bi00436a001
16. Kirchgessner TG, Chuat J-C, Heinzmann C, et al.: Organization of the human lipoprotein lipase gene and evolution of the lipase gene family. Proc Natl Acad Sci U S A 1989, 86:9647–9651. DOI: 10.1073/pnas.86.24.9647
17. Chuat JC, Raisonnier A, Etienne J, Galibert F: The lipoprotein lipase-encoding human gene: Sequence from intron-6 to intron-9 and presence of a 40-million-year-old Alu sequence. Gene 1992, 110:257–261. DOI: 10.1016/0378-1119(92)90658-C
18. Nickerson DA, Taylor SL, Weiss KM, et al.: DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 1998, 19:233–240. DOI: 10.1038/907
19. Bey L, Etienne J, Tse C, et al.: Cloning, sequencing and structural analysis of 976 base pairs of the promoter sequence for the rat lipoprotein lipase gene: Comparison with the mouse and human sequences. Gene 1998, 209:31–38. DOI: 10.1016/S0378-1119(98)00003-1
20. Santamarina-Fojo S: Genetic dyslipoproteinemias: Role of lipoprotein lipase and apolipoprotein C-II. Curr Opin Lipidol 1992, 3:186–195. DOI: 10.1097/00041433-199206000-00005
21. Santamarina-Fojo S, Brewer HB Jr: Lipoprotein lipase: Structure, function and mechanism of action. Int J Clin Lab Res 1994, 24:143–147. DOI: 10.1007/BF02592444
22. Hayden MR, Ma Y: Molecular genetics of human lipoprotein lipase deficiency. Mol Cell Biochem 1992, 113:171–176. DOI: 10.1007/BF00231536
23. Wiebusch H, Funke H, Kastelein JJP, et al.: Mutations in the lipoprotein lipase gene are not restricted to patients with type I hyperlipidemia. Circulation 1992, 86:609.
24. Mailly F, Palmen J, Muller DPR, et al.: Familial lipoprotein lipase (LPL) deficiency: A catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy. Hum Mutat 1997, 10:465–473. DOI: 10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C
25. Antonarakis SE, Nomenclature Working Group: Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998, 11:1–3. DOI: 10.1002/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O
26. Ehrenborg E, Clee SM, Pimstone SN, et al.: Ethnic variantion and in vivo effects of the −93t->g promotor variant in the lipoprotein lipase gene. Arterioscl Thromb Vasc Biol 1997, 17:2672–2678.
27. Kastelein JJP, Groenemeyer BE, Hallman DM, The Regress Study Group, et al.: The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. Clin Genet 1998, 52:27–33. DOI: 10.1034/j.1399-0004.1998.531530106.x
28. Hall S, Chu G, Miller G, et al.: A common mutation in the lipoprotein lipase gene promoter, −93T/G, is associated with lower plasma triglyceride levels and increased promoter activity in vitro. Arterioscler Thromb Vasc Biol 1997, 17:1969–1976.
29. Zhang HF, Henderson H, Gagne SE, et al.: Common sequence variants of lipoprotein lipase: Standardized studies of in vitro expression and catalytic function. Biochim Biophys Acta 1996, 1302:159–166.
30. Fisher RM, Humphries SE, Talmud PJ: Common variation in the lipoprotein lipase gene: Effects on plasma lipids and risk of atherosclerosis. Atherosclerosis 1997, 135:145–159. DOI: 10.1016/S0021-9150(97)00199-8
31. Gehrisch S, Kostka H, Julius U, Hanefeld M, Jaross W: Suszeptibilitaetsallele der Lipoproteinlipase (LPL) und der Hepatischen Lipase (HL) als genetisch bedingte Ursachen einer atherogenen Hyperlipidaemie (HLP). In Die Bedeutung von Proteoglykanen, Lipoproteinen und Lipasen fuer die Atherogenese. Edited by Heinle H, Schulte H, Siegel G. Deutsche Gesellschaft fuer Arterioskleroseforschung. Stuttgart: W. Kohlhammer; 1998:45–49.
32. Gehrisch S, Jaross W: Relevance of mutations in genes of the lipoprotein lipase (LPL) and the hepatic lipase (HL). In Advances in Lipoprotein and Atherosclerosis Research, Diagnostics and Treatment. Edited by Hanefeld M, Leonhardt W, Jaross W, Dude H. Jena: Gustav Fischer Verlag; 1998:173–179.
33. Rouis M, Lohse P, Dugi KA, et al.: Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp(9)→Asn, Tyr (262)→His). J Lipid Res 1996, 37:651–661.
34. Hokanson JE: Lipoprotein lipase gene variants and risk of coronary disease: A quantitative analysis of population-based studies. Int J Clin Lab Res 1997, 27:24–34.
35. Wittekoek ME, Moll E, Pimstone SN, et al.: A common mutation in the lipoprotein lipase gene (D9N) and FH: Evidence for gene-gene interaction. In Abstracts 70th EAS Congress 1998. Geneva: European Atherosclerosis Society 1998:9.
36. Gaudet D, Vohl M-C, Julien P, et al.: Relative contribution of low-density lipoprotein receptor and lipoprotein lipase gene mutations to angiographically assessed coronary artery disease among French Canadians. Am J Cardiol 1998, 82:299–305. DOI: 10.1016/S0002-9149(98)00328-2
37. Debruin TWA, Mailly F, Vanbarlingen HHJJ, et al.: Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia. Eur J Clin Invest 1996, 26:631–639.
38. Hoffer MJV, Bredie SJH, Snieder H, et al.: Gender-related association between the −93T→G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia. Atherosclerosis 1998, 138:91–99. DOI: 10.1016/S0021-9150(98)00007-0
39. Kostka H, Gehrisch S, Freidt M, et al.: Point mutations in the lipoprotein lipase gene are likely susceptibility alleles for familial combined hyperlipidemia. Clin Lab 1997, 43:893–897.
40. Yang WS, Nevin DN, Iwasaki L, et al.: Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease. J Lipid Res 1996, 37:2627–2637.
41. Monsalve MV, Henderson H, Roederer G, et al.: 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.
42. Ma Y, Henderson HE, Ven Murthy MR, et al.: A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. N Engl J Med 1991, 324:1761–1766. DOI: 10.1056/NEJM199106203242502
43. Ma Y, Wilson BI, Bijovet S, et al.: A missense mutation Asp250Asn in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. Genomics 1992, 13:649–653. DOI: 10.1016/0888-7543(92)90136-G
44. Bergeron J, Normand T, Bharucha A, et al.: Prevalence, geopraphical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec. Clin Genet 1992, 41:206–210. DOI: 10.1111/j.1399-0004.1992.tb03664.x
45. Bijvoet S, Gagne SE, Moorjani S, et al.: Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency. J Lipid Res 1996, 37:640–650.
46. Minnich A, Baloukas J, Roederer G, et al.: Lipoprotein lipase gene mutation in coronary artery disease. Can J Cardiol 1998, 14:711–716.
47. Nordestgaard BB, Reeler S, Steffensen R, Tybjaerg-Hansen A: Clinical expression in the heterozygote state of the Gly188Glu mutation in the lipoprotein lipase gene: Screening among 1000 heart patients and 5400 persons from general population (the Copenhagen City Heart Study). Atherosclerosis 1994, 109:205–206. DOI: 10.1016/0021-9150(94)93826-1
48. Funke H, Assmann G: The low down on lipoprotein lipase. Nat Genet 1995, 10:6–7. DOI: 10.1038/ng0595-6
49. Hoffer MJV, Bredie SJH, Boomsma DI, et al.: The lipoprotein lipase (Asn291 → Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia. Atherosclerosis 1996, 119:159–167. DOI: 10.1016/0021-9150(95)05641-6
50. Bijvoet AM, Bruin T, Kastelein JJP: The familial hyperchylomicronemia syndrome. Neth J Med 1993, 42:36–44.
51. Reymer PWA, Groenemeyer BE, Gagne E, et al.: A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum Mol Genet 1995, 4:1543–1549. DOI: 10.1093/hmg/4.9.1543
52. Degraaf J, Stalenhoef AFH: Defects of lipoprotein metabolism in familial combined hyperlipidaemia. Curr Opin Lipidol 1998, 9:189–196. DOI: 10.1097/00041433-199806000-00002
53. Wittrup HH, Tybjaerg-Hansen A, Abildgaard S, et al.: A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. J Clin Invest 1997, 99:1606–1613. DOI: 10.1172/JCI119323
54. Wittekoek ME, Pimstone SN, Reymer PWA, 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, 97:729–735.
55. Huang P, Kostulas K, Huang WX, et al.: Lipoprotein lipase gene polymorphisms in ischaemic stroke and carotid stenosis. Eur J Clin Invest 1997, 27:740–742. DOI: 10.1046/j.1365-2362.1997.1820730.x
56. Baum L, Chen L, Masliah E, et al.: Lipoprotein lipase mutations and Alzheimer’s disease. Am J Med Genet 1999, 88:136–139. DOI: 10.1002/(SICI)1096-8628(19990416)88:2<136::AID-AJMG8>3.0.CO;2-D
57. Hata A, Robertson M, Emi M, Lalouel J-M: Direct detection and automated sequencing of individuall alleles after electrophoretic strand separation: Identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucl Acid Res 1990, 18:5407–5411. DOI: 10.1093/nar/18.18.5407
58. Stock J, Thorn JA, Galton DJ: Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion. J Lipid Res 1992, 33:853–857.
59. Kobayashi J, Nishida T, Ameis D, et al.: A heterozygous mutation (the codon Ser447→ a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case wit type I hyperlipidemia. Biochem Biophys Res Commun 1992, 182:70–72. DOI: 10.1016/S0006-291X(05)80113-5
60. Humphries SE, Nicaud V, Margalef J, et al.: Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and postprandial plasma triglycerides-The European Atherosclerosis Research Study (EARS). Arterioscler Thromb Vasc Biol 1998, 18:526–534.
61. Murano T, Miyashita Y, Itoh Y, et al.: Incidence of lipoprotein lipase genotype for premature termination codon (Ser447-Ter) in Japanese, and association with dyslipoproteinemia. Clin Chim Acta 1998, 275:25–213. DOI: 10.1016/S0009-8981(98)00084-9
62. Peacock RE, Hamsten A, Nilson-Ehle P, Humphries SE: Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoproteins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden. Atherosclerosis 1992, 97:171–185. DOI: 10.1016/0021-9150(92)90130-9
63. Chikhi L, Destro-Bisol G, Bertorelle G, et al.: Clines of nuclear DNA markers suggest a large neolithic ancestry of the European gene pool. Proc Natl Acad Sci U S A 1998, 21:9053–9058. DOI: 10.1073/pnas.95.15.9053
64. Faustinella F, Chang A, Van Biervlit JP, et al.: Catalytic triad residue mutation Asp156Gly causing familial lipoprotein lipase deficiency: Co-inheritance with a nonsense mutation Ser447→Ter in a Turkish family. J Biol Chem 1991, 266:14418–14424.
65. Mattu RK, Needham EWA, Morgan R, et al.: DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population. Arterioscler Thromb 1994, 14:1090–1097.
66. Nevin DN, Brunzell JD, Deeb SS: The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity. Arterioscler Thromb 1994, 14:869–873.
67. Elbein SC, Yeager C, Kwong LK, et al.: Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial noninsulin-dependent diabetes mellitus families. J Clin Endocrinol Metab 1994, 79:1450–1456. DOI: 10.1210/jc.79.5.1450
68. Gagne E, Genest J, Zhang H, et al.: Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler Thromb 1994, 14:1250–1257.
69. Zhang Q, Liu Y, Liu BW, et al.: Common genetic variants of lipoprotein lipase and apolipoprotein AI-CIII that relate to coronary artery disease: A study in Chinese and European subjects. Mol Genet Metab 1998, 64:177–183. DOI: 10.1006/mgme.1998.2712
70. Georges JL, Regisbailly A, Salah D, et al.: Family study of lipoprotein lipase gene polymorphisms and plasma triglyceride levels. Genet Epidemiol 1996, 13:179–192. DOI: 10.1002/(SICI)1098-2272(1996)13:2<179::AID-GEPI4>3.0.CO;2-3
71. Lahr MM, Foley RA: Toward a theory of modern human origins: Geography, demography, and diversity in recent human evolution. Am J Phys Anthropol 1998, 27:137–176. DOI: 10.1002/(SICI)1096-8644(1998)107:27+<137::AID-AJPA6>3.0.CO;2-Q