Common polymorphisms in the CYP7A1 gene do not contribute to variation in rates of bile acid synthesis and plasma LDL cholesterol concentration

Atherosclerosis

Volumn 182, Issue 1, 2005, Pages 37-45

  Abrahamsson, Anna ^a   Krapivner, Sergey ^a   Gustafsson, Ulf ^b   Muhrbeck, Olle ^b   Eggertsen, Gösta ^a   Johansson, Inger ^c   Persson, Irene ^c   Angelin, Bo ^a   Ingelman Sundberg, Magnus ^c   Björkhem, Ingemar ^a   Einarsson, Curt ^a   Van't Hooft, Ferdinand M ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b DANDERYD HOSPITAL   (Sweden)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

DNA; Lipoproteins; Low density lipoprotein; Restriction fragment length polymorphism

Indexed keywords

CHOLESTEROL; CHOLESTEROL 7ALPHA MONOOXYGENASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADULT; ALLELE; ARTICLE; BILE ACID SYNTHESIS; CHOLELITHIASIS; CHOLESTEROL BLOOD LEVEL; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; ENZYME ACTIVITY; ETHNIC GROUP; GENE; GENE CONSTRUCT; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; GENETIC VARIABILITY; HEMOCONCENTRATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PARAMETER; PRIORITY JOURNAL; PROMOTER REGION;

BILE ACIDS AND SALTS; CARCINOMA, HEPATOCELLULAR; CELL LINE, TUMOR; CHOLESTENONES; CHOLESTEROL 7-ALPHA-HYDROXYLASE; CHOLESTEROL, LDL; GENETIC SCREENING; HAPLOTYPES; HUMANS; LIVER NEOPLASMS; MALE; MIDDLE AGED; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROMOTER REGIONS (GENETICS); TRANSCRIPTION, GENETIC; VARIATION (GENETICS);

EID: 23944501776     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2005.01.032     Document Type: Article

References (27)

1. D.W. Russell, and K.D.R. Setchell Bile acid biosynthesis Biochemistry 31 1992 4737 4749
2. D.F. Jelinek, S. Andersson, C.A. Slaughter, and D.W. Russell Cloning and regulation of cholesterol 7α-hydroxylase, the rate-limiting enzyme in bile acid biosynthesis J Biol Chem 265 1990 8190 8197
3. J.C. Cohen Contribution of cholesterol 7α-hydroxylase to the regulation of lipoprotein metabolism Curr Opin Lipidol 10 1999 303 307
4. I. Björkhem, E. Reihnér, B. Angelin, S. Ewerth, J.E. Akerlund, and K. Einarsson On the possible use of the serum level of 7 alpha-hydroxycholesterol as a marker for increased activity of the cholesterol 7 alpha-hydroxylase in humans J Lipid Res 28 1987 889 894
5. E. Reihnér, I. Björkhem, B. Angelin, S. Ewerth, and K. Einarsson Bile acid synthesis in humans: regulation of hepatic microsomal cholesterol 7 alpha-hydroxylase activity Gastroenterology 97 1989 1498 1505
6. C.J. Glueck, S. Ford, D. Scheel, and P. Steiner Colestipol and cholestyramine resin. Comparative effects in familial type II hyperlipoproteinemia JAMA 222 1972 676 681
7. H.R. Superko, P. Greenland, and R.A. Manchester Effectiveness of low-dose colestipol therapy in patients with moderate hypercholesterolemia Am J Cardiol 70 1992 135 140
8. D.K. Spady, J.A. Cuthbert, M.N. Willard, and R.S. Meidell Adenovirus-mediated transfer of a gene encoding cholesterol 7α-hydroxylase into hamsters increases hepatic enzyme activity and reduces plasma total and low density lipoprotein cholesterol J Clin Invest 96 1995 700 709
9. D.K. Spady, J.A. Cuthbert, M.N. Willard, and R.S. Meidell Overexpression of cholesterol 7α-hydroxylase (CYP7A) in mice lacking the low density lipoprotein (LDL) receptor gene J Biol Chem 273 1997 126 132
10. J. Wang, D.J. Freeman, S.M. Grundy, D.M. Levine, R. Guerra, and J.C. Cohen Linkage between cholesterol 7α-hydroxylase and high plasma low-density lipoprotein cholesterol concentrations J Clin Invest 101 1998 1283 1291
11. O. Muhrbeck, F.H. Wang, I. Björkhem, M. Axelson, and Einarsson Circulating markers for biosynthesis of cholesterol and bile acids are not depressed in asymptomatic gallstone subjects J Hepatol 27 1997 150 155
12. M. Axelso, I. Björkhem, E. Reihnér, and K. Einarsson The plasma level of 7alpha-hydroxy-4-cholesten-3-one reflects the activity of hepatic cholesterol 7 alpha-hydroxylase in man FEBS Lett 284 1991 216 218
13. G. Sauter, F. Berr, U. Beuers, S. Fischer, and G. Paumgartner Serum concentrations of 7 alpha-hydroxy-4-cholesten-3-one reflect bile acid synthesis in humans Hepatology 24 1996 123 126
14. K. Nilsell, B. Angelin, L. Liljeqvist, and K. Einarsson Biliary lipid output and bile acid kinetics in cholesterol gallstone disease; evidence for an increased hepatic secretion of cholesterol in Swedish patients Gastroenterology 89 1985 287 293
15. P. Tornvall, P. Båvenholm, C. Landou, U. de Faire, and A. Hamsten Relation of plasma levels and composition of apolipoprotein B-containing lipoproteins to angiographically defined coronary artery disease in young patients with myocardial infarction Circulation 88 1993 2180 2189
16. A.M.J.M. Van den Maagdenberg, P. de Knijff, Stalenhoef AFH, J.A. Gevers Leuven, L.M. Havekes, and R.R. Frants Apolipoprotein E*3-Leiden allele results from a partial gene duplication in exon 4 Biochem Biophys Res Commun 165 1989 851 857
17. J.F. Thompson, M.E. Lira, D.B. Lloyd, L.S. Hayes, S. Williams, and L. Elsenboss Cholesterol 7α-hydroxylase promoter separated from cyclophilin pseudogene by Alu sequence Biochim Biophys Acta 1168 1993 239 242
18. D.P. Wang, and J.Y.L. Chiang Structure and nucleotide sequences of the human cholesterol 7α-hydroxylase gene (CYP7) Genomics 20 1994 320 323
19. D.J. Lew, T. Decker, I. Strehlow, and J.E. Darnell Overlapping elements in the guanylate-binding protein gene promoter mediate transcriptional induction by alpha and gamma interferons Mol Cell Biol 11 1991 182 191
20. M. Alksnis, T. Barkhem, and P.E. Strömstedt High level expression of functional full length and truncated glucocorticoid receptor in Chinese hamster ovary cells J Biol Chem 266 1991 10078 10085
21. V.F. Kalb, and R.W. Bernlohr A new spectrophotometric assay for protein in cell extracts Anal Biochem 82 1977 362 371
22. S.J. Dawson, B. Wiman, A. Hamsten, F. Green, S. Humphries, and A.M. Henney The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells J Biol Chem 268 1993 10739 10745
23. J.C. Cohen, J.J. Cali, and D.F. Jelinek Cloning of the human cholesterol 7 alpha-hydroxylase (CYP7) and localization to chromosome 8q11-q12 Genomics 14 1992 153 161
24. A.D. Cooper, J. Chen, M.J. Botelho-Yetkinler, Y. Cao, T. Taniguchi, and B. Levy-Wilson Characterization of hepatic-specific regulatory elements in the promoter region of the human cholesterol 7α-hydroxylase gene J Biol Chem 272 1997 3444 3452
25. P. Couture, J.D. Otvos, L.A. Cupples, Wilson PWF, E.J. Schaefer, and J.M. Ordovas Association of the A-204C polymorphism in the cholesterol 7α-hydroxylase gene with variations in plasma low density lipoprotein cholesterol levels in the Framingham Offspring Study J Lipid Res 40 1999 1883 1889
26. J. Shoda, B. He, and N. Tanaka Increase of deoxycholate in supersaturated bile of patients with gallstone disease and its correlation with de novo synthesis of cholesterol and bile acids in liver, gallbladder emptying, and small intestine transit Hepatology 21 1995 1291 1302
27. C.R. Pullinger, C. Eng, and G. salen Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype J Clin Invest 110 2003 109 117