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Volumn 27, Issue 5, 1997, Pages 366-373

Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia

Author keywords

Coronary artery disease; familial hypercholesterolaemia; LDL receptor gene mutations

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN A; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

EID: 8244235756     PISSN: 00142972     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2362.1997.1250669.x     Document Type: Article
Times cited : (59)

References (42)
  • 1
    • 0024558277 scopus 로고
    • Homozygous familial hypercholesterolemia among French Canadians in Québec province
    • Moorjani S, Roy M, Gagné C et al. Homozygous familial hypercholesterolemia among French Canadians in Québec province. Arteriosclerosis 1989;9:211-16.
    • (1989) Arteriosclerosis , vol.9 , pp. 211-216
    • Moorjani, S.1    Roy, M.2    Gagné, C.3
  • 2
    • 0023140956 scopus 로고
    • The Lebanese allele at the LDL receptor locus: Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum
    • Lehrman MA, Schneider WJ, Brown MS et al. The Lebanese allele at the LDL receptor locus: nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. J Biol Chem 1987;262:401-10.
    • (1987) J Biol Chem , vol.262 , pp. 401-410
    • Lehrman, M.A.1    Schneider, W.J.2    Brown, M.S.3
  • 3
    • 0025915296 scopus 로고
    • The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners
    • Kotze MJ, Langenhoven E, Warnich L, du Plessis L, Retief E. The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners. Ann Hum Genet 1991;55:115-21.
    • (1991) Ann Hum Genet , vol.55 , pp. 115-121
    • Kotze, M.J.1    Langenhoven, E.2    Warnich, L.3    Du Plessis, L.4    Retief, E.5
  • 4
    • 0024799216 scopus 로고
    • Prevalence of familial hypercholesterolemia in Johannesburg Jews
    • Seftel HC, Baker SG, Jenkins T, Mendelsohn D. Prevalence of familial hypercholesterolemia in Johannesburg Jews. Am J Med Genet 1989;34:545-7.
    • (1989) Am J Med Genet , vol.34 , pp. 545-547
    • Seftel, H.C.1    Baker, S.G.2    Jenkins, T.3    Mendelsohn, D.4
  • 5
    • 0026607930 scopus 로고    scopus 로고
    • Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland
    • Aalto-Setälä K, Koivisto UM, Miettinen TA et al. Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland. J Intern Med 1996;231:227-34.
    • (1996) J Intern Med , vol.231 , pp. 227-234
    • Aalto-Setälä, K.1    Koivisto, U.M.2    Miettinen, T.A.3
  • 6
    • 0027731054 scopus 로고
    • Phenotypic expression of familial hypercholesterolaemia in central and southern Tunisia
    • Slimane MN, Pousse H, Maatoug F, Hammami M, Ben Farhat MH. Phenotypic expression of familial hypercholesterolaemia in central and southern Tunisia. Atherosclerosis 1993;104:153-8.
    • (1993) Atherosclerosis , vol.104 , pp. 153-158
    • Slimane, M.N.1    Pousse, H.2    Maatoug, F.3    Hammami, M.4    Ben Farhat, M.H.5
  • 7
    • 0025266556 scopus 로고
    • Common low-density lipoprotein receptor mutations in the French Canadian population
    • Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990;85:1014-23.
    • (1990) J Clin Invest , vol.85 , pp. 1014-1023
    • Leitersdorf, E.1    Tobin, E.J.2    Davignon, J.3    Hobbs, H.H.4
  • 8
    • 0026518938 scopus 로고
    • Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians
    • Bétard C, Kessling AM, Roy M, Chamberland A, Lussier-Cacan S, Davignon J. Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians. Hum Genet 1992;82:529-39.
    • (1992) Hum Genet , vol.82 , pp. 529-539
    • Bétard, C.1    Kessling, A.M.2    Roy, M.3    Chamberland, A.4    Lussier-Cacan, S.5    Davignon, J.6
  • 9
    • 0344328712 scopus 로고    scopus 로고
    • Premature coronary artery disease and high prevalence of monogenic traits for lipid disorders among French Canadians in north eastern region of Quebec province
    • Gaudet D, Moorjani S, Gagné C et al. Premature coronary artery disease and high prevalence of monogenic traits for lipid disorders among French Canadians in north eastern region of Quebec province (abstract). Atherosclerosis 1996;109:131.
    • (1996) Atherosclerosis , vol.109 , pp. 131
    • Gaudet, D.1    Moorjani, S.2    Gagné, C.3
  • 10
    • 0029364276 scopus 로고
    • L'hypercholestérolémie familial dans l'est du Québec: Un problème de santé publique? L'expérience de la clinique des maladies lipidiques de Chicoutimi
    • Gaudet D, Tremblay G, Perron P, Gagné C, Ouadahi Y, Moorjani S. L'hypercholestérolémie familial dans l'est du Québec: un problème de santé publique? L'expérience de la clinique des maladies lipidiques de Chicoutimi. L'union Médicale du Canada 1995;124: 54-60.
    • (1995) L'union Médicale du Canada , vol.124 , pp. 54-60
    • Gaudet, D.1    Tremblay, G.2    Perron, P.3    Gagné, C.4    Ouadahi, Y.5    Moorjani, S.6
  • 11
    • 0022549920 scopus 로고
    • A receptor-mediated pathway for cholesterol homeostasis
    • Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986;232:34-47.
    • (1986) Science , vol.232 , pp. 34-47
    • Brown, M.S.1    Goldstein, J.L.2
  • 12
    • 0027323004 scopus 로고
    • Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia
    • Moorjani S, Roy M, Torres AL et al. Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia. Lancet 1993;341:1303-6.
    • (1993) Lancet , vol.341 , pp. 1303-1306
    • Moorjani, S.1    Roy, M.2    Torres, A.L.3
  • 13
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypecholesterolemia
    • Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypecholesterolemia. Hum Mutat 1992;1:445-66.
    • (1992) Hum Mutat , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 14
    • 0023029454 scopus 로고
    • Incidence of coronary heart disease and lipoprotein cholesterol levels: The Framlingham study
    • Castelli WP, Garrison RJ, Wilson PWF, Abbot RD, Kalousdian S, Kannel WB. Incidence of coronary heart disease and lipoprotein cholesterol levels: the Framlingham study. JAMA 1986;256: 2835-8.
    • (1986) JAMA , vol.256 , pp. 2835-2838
    • Castelli, W.P.1    Garrison, R.J.2    Wilson, P.W.F.3    Abbot, R.D.4    Kalousdian, S.5    Kannel, W.B.6
  • 15
    • 0023025526 scopus 로고
    • Is relationship between serum cholesterol and risk of premature death from coronary heart disease continuous and graded? Findings in 356 222 primary screenees of the Multiple Risk Factor Intervention trial (MRFIT)
    • Stamler J, Wentworth D, Neaton JD. Is relationship between serum cholesterol and risk of premature death from coronary heart disease continuous and graded? Findings in 356 222 primary screenees of the Multiple Risk Factor Intervention trial (MRFIT). JAMA 1986;256:2823-8.
    • (1986) JAMA , vol.256 , pp. 2823-2828
    • Stamler, J.1    Wentworth, D.2    Neaton, J.D.3
  • 16
    • 0023948875 scopus 로고
    • Apolipoproteins, dyslipoproteinaemia and premature coronary heart disease
    • Hamsten A. Apolipoproteins, dyslipoproteinaemia and premature coronary heart disease. Acta Med Scand 1988;223:389-403.
    • (1988) Acta Med Scand , vol.223 , pp. 389-403
    • Hamsten, A.1
  • 17
    • 0029161007 scopus 로고
    • Dose-response relationships of serum lipid measurements with the extent of coronary stenosis. Strong, independent and comprehensive
    • Bolibar I, Thompson SG, von Eckardstein A, Sandkamp M, Assmann G. Dose-response relationships of serum lipid measurements with the extent of coronary stenosis. Strong, independent and comprehensive. Arterioscler Thromb Vasc Biol 1995;15: 1035-42.
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1035-1042
    • Bolibar, I.1    Thompson, S.G.2    Von Eckardstein, A.3    Sandkamp, M.4    Assmann, G.5
  • 18
    • 0018696286 scopus 로고
    • Heterozygous familial hypercholesterolemia. Relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women
    • Gagné C, Moorjani S, Brun D, Toussaint M, Lupien P-J. Heterozygous familial hypercholesterolemia. Relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women. Atherosclerosis 1979;34:13-24.
    • (1979) Atherosclerosis , vol.34 , pp. 13-24
    • Gagné, C.1    Moorjani, S.2    Brun, D.3    Toussaint, M.4    Lupien, P.-J.5
  • 19
    • 0022479690 scopus 로고
    • Plasma triglycerides related decrease in high-density lipoprotein cholesterol and its association with myocardial infarction in heterozygous familial hypercholesterolemia
    • Moorjani S, Gagné C, Lupien PJ, Brun D. Plasma triglycerides related decrease in high-density lipoprotein cholesterol and its association with myocardial infarction in heterozygous familial hypercholesterolemia. Metabolism 1986;35:311-16.
    • (1986) Metabolism , vol.35 , pp. 311-316
    • Moorjani, S.1    Gagné, C.2    Lupien, P.J.3    Brun, D.4
  • 20
    • 0018602014 scopus 로고
    • Classification and diagnosis of diabetes and other categories of glucose intolerance
    • National Diabetes Data Group. Classification and diagnosis of diabetes and other categories of glucose intolerance. Diabetes 1979;28:1039-57.
    • (1979) Diabetes , vol.28 , pp. 1039-1057
  • 22
    • 49749215178 scopus 로고
    • Sur un dosage rapide du cholestérol lié aux alpha et aux bêta lipoprotéines du sérum
    • Burstein M, Samaille J. Sur un dosage rapide du cholestérol lié aux alpha et aux bêta lipoprotéines du sérum. Clin Chim Acta 1960;5:609.
    • (1960) Clin Chim Acta , vol.5 , pp. 609
    • Burstein, M.1    Samaille, J.2
  • 23
    • 0023221817 scopus 로고
    • Automated enzymatic standardized lipid analyses for plasma and lipoprotein fractions
    • McNamara JR, Schaefer EJ. Automated enzymatic standardized lipid analyses for plasma and lipoprotein fractions. Clin Chim Acta 1987;166:1-8.
    • (1987) Clin Chim Acta , vol.166 , pp. 1-8
    • McNamara, J.R.1    Schaefer, E.J.2
  • 24
    • 0020004724 scopus 로고
    • 2+ precipitation procedure for quantitation of high-density lipoprotein cholesterol
    • 2+ precipitation procedure for quantitation of high-density lipoprotein cholesterol. Clin Chem 1982;28:1379-87.
    • (1982) Clin Chem , vol.28 , pp. 1379-1387
    • Warnick, G.R.1    Benderson, J.2    Albers, J.J.3
  • 25
    • 0015348189 scopus 로고
    • Estimation of the concentration of low density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge
    • Friedewald WT, Levy RI, Frederickson DS. Estimation of the concentration of low density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 1972;18:499-502.
    • (1972) Clin Chem , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.I.2    Frederickson, D.S.3
  • 26
    • 0024441521 scopus 로고
    • Identification of a second French Canadian LDL receptor gene deletion and development of a rapid method to detect both deletions
    • Ma Y, Bétard C, Roy M, Davignon J, Kessling AM. Identification of a second French Canadian LDL receptor gene deletion and development of a rapid method to detect both deletions. Clin Genet 1989;36:219-28.
    • (1989) Clin Genet , vol.36 , pp. 219-228
    • Ma, Y.1    Bétard, C.2    Roy, M.3    Davignon, J.4    Kessling, A.M.5
  • 27
    • 0029156489 scopus 로고
    • Rapid restriction fragment analysis for screening four point mutations of low-density lipoprotein receptor gene in French Canadians
    • Vohl MC, Couture P, Moorjani S et al. Rapid restriction fragment analysis for screening four point mutations of low-density lipoprotein receptor gene in French Canadians. Hum Mutat 1995;6:243-6.
    • (1995) Hum Mutat , vol.6 , pp. 243-246
    • Vohl, M.C.1    Couture, P.2    Moorjani, S.3
  • 28
    • 8244235310 scopus 로고    scopus 로고
    • Identification of novel mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French-Canadians
    • in press
    • Couture P, Vohl MC, Gagné C et al. Identification of novel mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French-Canadians. Hum Mutat 1997;(in press).
    • (1997) Hum Mutat
    • Couture, P.1    Vohl, M.C.2    Gagné, C.3
  • 29
    • 0028170828 scopus 로고
    • Apolipoprotein e polymorphism and heterozygous familial hypercholesterolemia: Sex-specific effect
    • Ferrières J, Sing CF, Roy M, Davignon J, Lussier-Cacan S. Apolipoprotein E polymorphism and heterozygous familial hypercholesterolemia: sex-specific effect. Arterioscler Thromb 1994;14:1553-60.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1553-1560
    • Ferrières, J.1    Sing, C.F.2    Roy, M.3    Davignon, J.4    Lussier-Cacan, S.5
  • 30
    • 0342855377 scopus 로고    scopus 로고
    • Influence of genetic variability in the nondeletion LDL-receptor allele on phenotypic variation in French-Canadian familial hypercholesterolemia heterozygotes sharing a 'null' LDL-receptor gene defect
    • Bétard C, Kessling AM, Roy M, Davignon J. Influence of genetic variability in the nondeletion LDL-receptor allele on phenotypic variation in French-Canadian familial hypercholesterolemia heterozygotes sharing a 'null' LDL-receptor gene defect. Atherosclerosis 1996;119:43-55.
    • (1996) Atherosclerosis , vol.119 , pp. 43-55
    • Bétard, C.1    Kessling, A.M.2    Roy, M.3    Davignon, J.4
  • 31
    • 0025633291 scopus 로고
    • Lipoprotein (a) and coronary heart disease: A prospective case-control study in a general population sample of middle aged men
    • Rosengren A, Wilhelmsen L, Eriksson E, Risberg B, Wedel H. Lipoprotein (a) and coronary heart disease: a prospective case-control study in a general population sample of middle aged men. Br Med J 1990;30:1248-51.
    • (1990) Br Med J , vol.30 , pp. 1248-1251
    • Rosengren, A.1    Wilhelmsen, L.2    Eriksson, E.3    Risberg, B.4    Wedel, H.5
  • 32
    • 0028316960 scopus 로고
    • Lipoprotein (a) levels and risk of coronary heart disease in men. The Lipid Research Clinics Coronary Primary Prevention Trial
    • Schaefer EJ, Lamon Fava S, Jenner JL et al. Lipoprotein (a) levels and risk of coronary heart disease in men. The Lipid Research Clinics Coronary Primary Prevention Trial (see comments). JAMA 1994;271:999-1003.
    • (1994) JAMA , vol.271 , pp. 999-1003
    • Schaefer, E.J.1    Lamon Fava, S.2    Jenner, J.L.3
  • 33
    • 0027366185 scopus 로고
    • A prospective study of lipoprotein (a) and the risk of myocardial infarction
    • Ridker PM, Hennekens CH, Stampfer MJ. A prospective study of lipoprotein (a) and the risk of myocardial infarction (see comments). JAMA 1993;270:2195-9.
    • (1993) JAMA , vol.270 , pp. 2195-2199
    • Ridker, P.M.1    Hennekens, C.H.2    Stampfer, M.J.3
  • 34
    • 0025365313 scopus 로고
    • Relation of serum lipoprotein (a) concentration and apolipoprotein (a) phenotype to coronary heart disease in patients with familial hypercholesterolemia
    • Seed M, Hoppichler F, Reaveley D et al. Relation of serum lipoprotein (a) concentration and apolipoprotein (a) phenotype to coronary heart disease in patients with familial hypercholesterolemia. N Engl J Med 1990;322:1494-9.
    • (1990) N Engl J Med , vol.322 , pp. 1494-1499
    • Seed, M.1    Hoppichler, F.2    Reaveley, D.3
  • 35
    • 0029091696 scopus 로고
    • Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation
    • Ferrieres J, Lambert J, Lussier-Cacan S, Davignon J. Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation. Circulation 1995;92:290-5.
    • (1995) Circulation , vol.92 , pp. 290-295
    • Ferrieres, J.1    Lambert, J.2    Lussier-Cacan, S.3    Davignon, J.4
  • 36
    • 0030067997 scopus 로고    scopus 로고
    • Lp (a) levels and atherosclerotic vascular disease in a sample of patients with familial hypercholesterolemia sharing the same gene defect
    • Carmena R, Lussier-Cacan S, Roy M et al. Lp (a) levels and atherosclerotic vascular disease in a sample of patients with familial hypercholesterolemia sharing the same gene defect. Arterioscler Thromb Vasc Biol 1996;16:129-36.
    • (1996) Arterioscler Thromb Vasc Biol , vol.16 , pp. 129-136
    • Carmena, R.1    Lussier-Cacan, S.2    Roy, M.3
  • 37
    • 0028170826 scopus 로고
    • Lp (a) concentration and apo (a) isoform size. Relation to the presence of coronary artery disease in familial hypercholesterolemia
    • Bowden JF, Pritchard PH, Hill JS, Frohlich JJ. Lp (a) concentration and apo (a) isoform size. Relation to the presence of coronary artery disease in familial hypercholesterolemia. Arterioscler Thromb 1994;14:1561-8.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1561-1568
    • Bowden, J.F.1    Pritchard, P.H.2    Hill, J.S.3    Frohlich, J.J.4
  • 38
    • 0015968924 scopus 로고    scopus 로고
    • Morbidity and mortality in diabetics in the Framlingham population
    • Garcia MJ, McNamara PM, Gordon T, Kannell WB. Morbidity and mortality in diabetics in the Framlingham population. Diabetes 1996;23:105-11.
    • (1996) Diabetes , vol.23 , pp. 105-111
    • Garcia, M.J.1    McNamara, P.M.2    Gordon, T.3    Kannell, W.B.4
  • 41
    • 0021678265 scopus 로고
    • Distribution of adipose tissue and risk of cardiovascular disease and death: A 12 year follow-up of participants in the population study of Gothenberg, Sweden
    • Lapidus L, Bengtsson C, Larsson B, Pennert K, Rybo E, Sjöström L. Distribution of adipose tissue and risk of cardiovascular disease and death: a 12 year follow-up of participants in the population study of Gothenberg, Sweden. Br Med J 1984;289:1261-3.
    • (1984) Br Med J , vol.289 , pp. 1261-1263
    • Lapidus, L.1    Bengtsson, C.2    Larsson, B.3    Pennert, K.4    Rybo, E.5    Sjöström, L.6
  • 42
    • 0021152686 scopus 로고
    • Abdominal adipose tissue distribution, obesity and risk factor of cardiovascular disease and death: 13 year follow-up of participants in the study of men born in 1913
    • Larsson B, Svärdsudd K, Welin L, Wilhelmsen L, Björntorp P, Tibblin G. Abdominal adipose tissue distribution, obesity and risk factor of cardiovascular disease and death: 13 year follow-up of participants in the study of men born in 1913. Br Med J 1984; 288:1401-4.
    • (1984) Br Med J , vol.288 , pp. 1401-1404
    • Larsson, B.1    Svärdsudd, K.2    Welin, L.3    Wilhelmsen, L.4    Björntorp, P.5    Tibblin, G.6


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