Access the full text.
Sign up today, get DeepDyve free for 14 days.
D. Gretch, S. Sturley, Lin Wang, B. Lipton, Alison Dunning, Kurt Grunwald, J. Wetterau, Z. Yao, P. Talmud, A. Attie (1996)
The Amino Terminus of Apolipoprotein B Is Necessary but Not Sufficient for Microsomal Triglyceride Transfer Protein Responsiveness (*)The Journal of Biological Chemistry, 271
Patrick Couture, James Otvos, L. Cupples, P. Wilson, E. Schaefer, J. Ordovás (2000)
Absence of association between genetic variation in the promoter of the microsomal triglyceride transfer protein gene and plasma lipoproteins in the Framingham Offspring Study.Atherosclerosis, 148 2
John Wettereau, D. Zilversmit (1985)
Purification and characterization of microsomal triglyceride and cholesteryl ester transfer protein from bovine liver microsomes.Chemistry and physics of lipids, 38 1-2
Shirley Miller, D. Dykes, H. Polesky (1988)
A simple salting out procedure for extracting DNA from human nucleated cells.Nucleic acids research, 16 3
B. Weir, W. Hill (1986)
Nonuniform recombination within the human beta-globin gene cluster.American journal of human genetics, 38 5
M. Wittekoek, S. Pimstone, P. Reymer, Lisette Feuth, Gert-Jan Botma, J. Defesche, M. Prins, M. Hayden, J. Kastelein (1998)
A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia.Circulation, 97 8
T. Bersot, S. Russell, S. Thatcher, N. Pomernacki, Robert Mahley, K. Weisgraber, T. Innerarity, Caroline Fox (1993)
A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder.Journal of lipid research, 34 7
A. George (1961)
The metabolic basis of inherited diseaseThe Journal of Pediatrics, 58
N. Sakata, Xujun Wu, J. Dixon, H. Ginsberg (1993)
Proteolysis and lipid-facilitated translocation are distinct but competitive processes that regulate secretion of apolipoprotein B in Hep G2 cells.The Journal of biological chemistry, 268 31
D. Sharp, L. Blinderman, K. Combs, B. Kienzle, B. Ricci, K. Wager-Smith, C. Gil, C. Turck, Marie-Elizabeth Boumas, D. Rader, L. Aggerbeck, R. Gregg, D. Gordon, J. Wetterau (1993)
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemiaNature, 365
F. Karpe, Björn Lundahl, E. Ehrenborg, Per Eriksson, A. Hamsten (1998)
A common functional polymorphism in the promoter region of the microsomal triglyceride transfer protein gene influences plasma LDL levels.Arteriosclerosis, thrombosis, and vascular biology, 18 5
Waldo Fisher, L. Zech, P. Stacpoole (1994)
ApoB metabolism in familial hypercholesterolemia. Inconsistencies with the LDL receptor paradigm.Arteriosclerosis and thrombosis : a journal of vascular biology, 14 4
Narcisi Tm, C. Shoulders, Chester Sa, J. Read, Brett Dj, Harrison Gb, Grant Tt, Fox Mf, S. Povey, de Tw (1995)
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.American journal of human genetics, 57 6
John, R. Wettera, Kelly, A., Combs, Sara, N., Spinner (1990)
Protein disulfide isomerase is a component of the microsomal triglyceride transfer protein complex.The Journal of biological chemistry, 265 17
K. Heath, Le-Ahn Luong, J. Leonard, A. Chester, C. Shoulders, James Scott, H. Middleton-Price, S. Humphries, P. Talmud (1997)
The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22–24)Prenatal Diagnosis, 17
James Leiper, J. Bayliss, R. Pease, Brett Dj, James Scott, Carol Shoulders (1994)
Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells.The Journal of biological chemistry, 269 35
G. Miller, K. Bauer, S. Barzegar, A. Foley, J. Mitchell, J. Cooper, R. Rosenberg (1995)
The Effects of Quality and Timing of Venepuncture on Markers of Blood Coagulation in Healthy Middle-aged MenThrombosis and Haemostasis, 73
G. Miller, K. Bauer, S. Barzegar, J. Cooper, R. Rosenberg (1996)
Increased Activation of the Haemostatic System in Men at High Risk of Fatal Coronary Heart DiseaseThrombosis and Haemostasis, 75
S. Herrmann, O. Poirier, V. Nicaud, A. Evans, J. Ruidavets, G. Luc, D. Arveiler, C. Bao-sheng, F. Cambien (1998)
Identification of two polymorphisms in the promoter of the microsomal triglyceride transfer protein (MTP) gene: lack of association with lipoprotein profiles.Journal of lipid research, 39 12
X. Wu, A. Shang, H. Jiang, H. Ginsberg (1996)
Low rates of apoB secretion from HepG2 cells result from reduced delivery of newly synthesized triglyceride to a "secretion-coupled" pool.Journal of lipid research, 37 6
Xujun Wu, Mingyue Zhou, Li-Shin Huang, J. Wetterau, H. Ginsberg (1996)
Demonstration of a Physical Interaction between Microsomal Triglyceride Transfer Protein and Apolipoprotein B during the Assembly of ApoB-containing Lipoproteins (*)The Journal of Biological Chemistry, 271
Carol Shoulders, D. Brett, Jayne Bayllss, T. Narcisi, Adam Jarmuz, Tamsin Grantham, Patricia Leoni, Shoumo Bhattacharya, R. Pease, Paul Cullen, Sassoon Levi, Peter Byfield, Paul Purkiss, James Scott (1993)
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.Human molecular genetics, 2 12
P. Talmud, S. Bujac, S. Hall, G. Miller, S. Humphries (2000)
Substitution of asparagine for aspartic acid at residue 9 (D9N) of lipoprotein lipase markedly augments risk of ischaemic heart disease in male smokers.Atherosclerosis, 149 1
S. Furukawa, N. Sakata, H. Ginsberg, Joseph Dixon (1992)
Studies of the sites of intracellular degradation of apolipoprotein B in Hep G2 cells.The Journal of biological chemistry, 267 31
Björn Lundahl, Trond Leren, Leiv Ose, A. Hamsten, F. Karpe (2000)
A functional polymorphism in the promoter region of the microsomal triglyceride transfer protein (MTP -493G/T) influences lipoprotein phenotype in familial hypercholesterolemia.Arteriosclerosis, thrombosis, and vascular biology, 20 7
L. Berglund, O. Wiklund, G. Eggertsen, S. Olofsson, M. Eriksson, T. Lindén, G. Bondjers, B. Angelin (1993)
Apolipoprotein E phenotypes in familial hypercholesterolaemia: importance for expression of disease and response to therapyJournal of Internal Medicine, 233
I. Day, S. Humphries, S. Richards, D. Norton, M. Reid (1995)
High-throughput genotyping using horizontal polyacrylamide gels with wells arranged for microplate array diagonal gel electrophoresis (MADGE).BioTechniques, 19 5
Mingyue Zhou, Xujun Wu, H. Ginsberg (1996)
Evidence That a Rapidly Turning Over Protein, Normally Degraded by Proteasomes, Regulates hsp72 Gene Transcription in HepG2 Cells*The Journal of Biological Chemistry, 271
J. Wetterau, L. Aggerbeck, M. Bouma, C. Eisenberg, A. Munck, M. Hermier, J. Schmitz, G. Gay, D. Rader, R. Gregg (1992)
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.Science, 258 5084
Melissa Austin, P. Talmud, Le-Ahn Luong, Lema Haddad, Ian Day, Beth Newman, Karen Edwards, Ronald Krauss, Steve Humphries (1998)
Candidate-gene studies of the atherogenic lipoprotein phenotype: a sib-pair linkage analysis of DZ women twins.American journal of human genetics, 62 2
Microsomal triglyceride transfer protein (MTP) plays a central role in the synthesis of lipoproteins by shuttling lipids between phospholipid membranes to apoB. We have examined the effect of three MTP gene variants, −493G > T, Q95H and H297Q, in 2831 healthy UK middle‐aged men. The rare allele frequencies were: 0.25 (95% CI 0.24–0.26) for −493T, 0.054 (95% CI 0.05–0.06) for 95H and 0.32 (95% CI 0.31–0.33) for 297Q. The three variants were in strong allelic association in all pairwise combinations (p < 0.001). None of the variant sites were associated with significant differences in cholesterol, triglyceride, apoB or apoAI levels. When stratified by tertiles of triglycerides for the H297Q variant alone there was a significant effect on apoB levels in men in the top tertile (p= 0.01). Considering the −493G > T and H297Q genotype in combination on baseline levels, individuals with three or four rare alleles had 6.6% higher mean apoB levels compared to the rest (p= 0.007). Therefore, homozygosity for 297Q at higher triglyceride (Tg) levels, or in combination with −493G > T, is associated with a raising effect on apoB levels, suggesting the importance of modest differences in MTP activity in determining hepatic secretion of lipoproteins in healthy men.
Annals of Human Genetics – Wiley
Published: Jan 1, 2000
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.