Genomewide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels

American Journal of Human Genetics

Volumn 64, Issue 5, 1999, Pages 1453-1463

  Pajukanta, Päivi ^a   Terwilliger, Joseph D ^f   Perola, Markus ^a   Hiekkalinna, Tero ^a   Nuotio, Ilpo ^c   Ellonen, Pekka ^a   Parkkonen, Maija ^a   Hartiala, Jaana ^a   Ylitalo, Kati ^b   Pihlajamäki, Jussi ^d   Porkka, Kimmo ^a   Laakso, Markku ^d   Viikari, Jorma ^c   Ehnholm, Christian ^a   Taskinen, Marja Riitta ^b   Peltonen, Leena ^a,e  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c UNIVERSITY OF TURKU   (Finland)

^d UNIVERSITY OF EASTERN FINLAND   (Finland)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; AGED; ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 1Q; DOMINANT INHERITANCE; FAMILIAL HYPERLIPEMIA; FAMILIAL INCIDENCE; FEMALE; FINLAND; GENE LOCATION; GENE LOCUS; GENETIC LINKAGE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MALE; MARKER GENE; PRIORITY JOURNAL;

EID: 0033362160     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302365     Document Type: Article

References (52)

1. Aitman TJ, Godsland IF, Farren B, Crook D, Wong HJ, Scott J (1997) Defects of insulin action on fatty acid and carbohydrate metabolism in familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 17:748-754
2. Argraves WS, Suzuki S, Arai H, Thomson K, Pierschbacher MD, Ruoslahti E (1987) Amino acid sequence of the human fibronectin receptor. J Cell Biol 105:1183-1190
3. Arner P (1997) Is familial combined hyperlipidaemia a genetic disorder of adipose tissue? Curr Opin Lipidol 8:89-94
4. Baekkeskov S, Aanstoot HJ, Christgau S, Reetz A, Solimena M, Cascalho M, Folli F, et al (1990) Identification of the 64K autoantigen in insulin-dependent diabetes as the GABA- synthesizing enzyme glutamic acid decarboxylase. Nature 347:151-156
5. Castro Cabezas M, de Bruin TWA, de Valk HW, Shoulders CC, Jansen H, Erkelens DW (1993) Impaired fatty acid metabolism in familial combined hyperlipidemia: a mechanism associating hepatic apolipoprotein B overproduction and insulin resistance. J Clin Invest 92:160-168
6. Cottingham RW Jr, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53: 252-263
7. Cullen P, Farren B, Scott J, Farrall M (1994) Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia. Arterioscler Tromb 14: 1233-1249
8. Cuthbert JA, East CA, Bilheimer DW (1986) Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytes. N Engl J Med 314:879-883
9. Dallinga-Thie GM, van Linde-Sibenius Trip M, Rotter JI, Cantor RM, Bu X, Lusis AJ, de Bruin TW (1997) Complex genetic contribution of the apoAI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes. J Clin Invest 99:953-961
10. de Graaf J, Stalenhoef AF (1998) Defects of lipoprotein metabolism in familial combined hyperlipidaemia. Curr Opin Lipidol 9:189-196
11. de Gruijter M, Hoogerbrugge N, van Rijn MA, Koster JF, Sluiter W, Jongkind JF (1991) Patients with combined hypercholesterolemia-hypertriglyceridemia show an increased monocyte-endothelial cell adhesion in vitro: triglyceride level as a major determinant. Metabolism 40:1119-1121
12. de la Chapelle A (1993) Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30:857-865
13. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
14. Gagne E, Genest J, Zhang H, Clark CA, Hayden MR (1994) Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler Thromb 14: 1250-1257
15. Genest JJ Jr, Martin-Munley SS, McNamara JR, Ordovas JM, Jenner J, Myers RH, Silberman SR, et al (1992) Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation 85:2025-2033
16. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CSJ, Pauls DL, Weissenbach J, et al (1996) A genome-wide search for chromosome loci linked to bipolar affective disorder in the Old Order Amish. Nat Genet 12:431-435
17. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG (1973) Hyperlipidemia in coronary heart disease II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 52:1544-1568
18. Grundy SM, Chait A, Brunzell JD (1987) Familial combined hyperlipidemia workshop. Arteriosclerosis 7:203-207
19. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250: 1684-1689
20. Hanis CL, Boerwinkle E, Chakraborty R, Ellsworth DL, Concannon P, Stirling B, Morrison VA, et al (1996) A genome- wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet 13:161-166
21. Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 2:204-211
22. Jarvik GP, Brunzell JD, Austin MA, Krauss RM, Motulsky A, Wijsman E (1994) Generic predictors of FCHL in four large pedigrees: influence of apoB level major locus predicted genotype and LDL subclass phenotype. Arterioscler Thromb 14:1687-1694
23. Juo S-HH, Bredie SJH, Kiemeney LA, Demacker PNM, Stalenhoef AFH (1998) A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia. Am J Hum Genet 63:586-594
24. Kaufman NA, Dennis BH, Heiss G, Friedlander Y, Kark JD, Stein Y (1986) Comparison of nutrient intakes of selected populations in the United States and Israel: the Lipid Research Clinics prevalence study. Am J Clin Nutr 43:604-620
25. Kuokkanen S, Sundvall M, Terwilliger JD, Tienari PJ, Wikström J, Holmdahl R, Pettersson U, et al (1996) A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2. Nat Genet 13:477-480
26. Lathrop GM, Lalouel J-M, Julier CA, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
27. Mahtani MM, Widen E, Lehto M, Thomas J, McCarthy M, Brayer B, Bryant B, et al (1996) Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet 14:90-94
28. Marcil M, Boucher B, Gagne E, Davignon J, Hayden M, Genest J Jr (1996) Lack of association of the apolipoprotein AI-CIII-AIV gene XmnI and SstI polymorphisms and of the lipoprotein lipase gene mutations in familial combined hyperlipoproteinemia in French Canadian subjects. J Lipid Res 37:309-319
29. Nikkilä EA, Aro A (1973) Family study of serum lipids and lipoproteins in coronary heart disease. Lancet 1:954-959
30. Ott J (1991) Analysis of human genetic linkage. Johns Hopkins University Press, Baltimore
31. Pajukanta P, Nuotio I, Terwilliger JD, Porkka KVK, Ylitalo K, Pihlajamäki J, Suomalainen AJ, et al (1998) Linkage of familial combined hyperlipidemia to chromosome 1q21-q23. Nat Genet 18:369-373
32. Peltonen L, Pekkarinen P, Aaltonen J (1995) Messages from an isolate: lessons from the Finnish gene pool. Biol Chem Hoppe Seyler 376:697-704
33. Pericak-Vance MA, Bebout JL, Gaskell PC Jr, Yamaoka LH, Hung WY, Alberts MJ, Walker AP, et al (1991) Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet 48:1034-1050
34. Porkka KVK, Nuotio I, Pajukanta P, Ehnholm C, Suurinkeroinen L, Syvänne M, Lehtimäki T, et al (1997) Phenotype expression in familial combined hyperlipidemia. Atherosclerosis 133:245-253
35. Porkka KVK, Viikari J, Rönnemaa T, Marniemi J, Åkerblom HK (1994) Age and gender specific serum lipid percentiles of Finnish children and young adults: The Cardiovascular Risk in Young Finns study. Acta Paediatr 83:838-848
36. Reaven GM (1988) Banting Lecture 1988: role of insulin resistance in human disease. Diabetes 37:1595-1607
37. Reymer PWA, Groenemeyer BE, Gagne E, Miao L, Appelman EEG, Seidel JC, Kromhout D, et al (1995) A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum Mol Genet 4:1543-1549
38. Reynisdottir S, Eriksson M, Angelin B, Arner P (1995) Impaired activation of adipocyte lipolysis in familial combined hyperlipidemia. J Clin Invest 95:2161-2169
39. Risch N, Giuffra L (1992) Model misspecification and multipoint linkage analysis. Hum Hered 42:77-92
40. Rose G, Blackburn H, Gillum R (1982) Cardiovascular survey methods, 2d ed. World Health Organization, Geneva
41. Sawcer S, Jones HB, Feakes R, Gray J, Smaldon N, Chataway J, Robertson N, et al (1996) A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet 13:464-468
42. Schäffer AA, Gupta SK, Shriram K, Cottingham RW Jr (1994) Avoiding recomputation in linkage analysis. Hum Hered 44: 225-237
43. Sheffield VC, Weber JL, Buetow KH, Murray JC, Even DA, Wiles K, Gastier JM, et al (1995) A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet 4:1837-1844
44. St George-Hyslop PH, Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers RH, et al (1987) The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science 235:885-890
45. Terwilliger JD (1998) Linkage analysis - model based. In: Armitage, P, Colton T (eds) Encyclopedia of biostatistics. John Wiley & Sons, New York
46. Terwilliger JD, Ott J (1993) A novel polylocus method for linkage analysis using the lod-score or affected sib-pair method. Genet Epidemiol 10:477-482
47. Trembath RC, Clough RL, Rosbotham JL, Jones AB, Camp RD, Frodsham A, Browne J, et al (1997) Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis. Hum Mol Genet 6:813-820
48. Vakkilainen J, Porkka KVK, Nuotio I, Pajukanta P, Suurinkeroinen L, Ylitalo K, Viikari JSA, et al (1998) Glucose intolerance in familial combined hyperlipidemia. Eur J Clin Invest 28:24-32
49. Vartiainen E, Puska P, Jousilahti P, Korhonen HJ, Tuomilehto J, Nissinen A (1994) Twenty-year trends in coronary risk factors in North Karelia and in other areas of Finland. Int J Epidemiol 23:495-504
50. Wijsman EM, Brunzell JD, Jarvik GP, Austin MA, Motulsky AG, Deep SS (1998) Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. Arterioscler Thromb Vasc Biol 18:215-226
51. Wojciechowski AP, Farrall M, Cullen P, Wilson TME, Bayliss JD, Farren B, Griffin BA, et al (1991) Familial combined hyperlipidaemia linked to the apolipoprotein AI-CIII-AIV gene cluster on chromosome 11q23-q24. Nature 349: 161-164
52. Yang WS, Nevin DN, Peng R, Brunzell JD, Deeb SS (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc Natl Acad Sci USA 92:4462-4466