Linkage between cholesterol 7α-hydroxylase and high plasma low-density lipoprotein cholesterol concentrations

Journal of Clinical Investigation

Volumn 101, Issue 6, 1998, Pages 1283-1291

  Wang, Jinping ^a   Freeman, Dilys J ^a   Grundy, Scott M ^a   Levine, Daniel M ^c   Guerra, Rudy ^b   Cohen, Jonathan C ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b SOUTHERN METHODIST UNIVERSITY   (United States)

^c ROGOSIN INSTITUTE   (United States)

Author keywords

Bile acids; Cholesterol 7 alpha monooxygenase; Polymorphism (genetics)

Indexed keywords

APOLIPOPROTEIN B; CHOLESTEROL 7ALPHA MONOOXYGENASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; APOLIPOPROTEIN E; CHOLESTEROL; DNA; LIPOPROTEIN; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHOLESTEROL BLOOD LEVEL; DNA FLANKING REGION; DNA SEQUENCE; FEMALE; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HERITABILITY; HUMAN; HUMAN EXPERIMENT; MALE; PRIORITY JOURNAL; SIBLING; ALLELE; BLOOD; GENETICS; METABOLISM; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION;

ADULT; ALLELES; APOLIPOPROTEINS B; APOLIPOPROTEINS E; CHOLESTEROL; CHOLESTEROL 7-ALPHA-HYDROXYLASE; CHOLESTEROL, LDL; DNA; FEMALE; HUMANS; LINKAGE (GENETICS); LIPOPROTEINS; MALE; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA; TRIGLYCERIDES;

EID: 0032520266     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI1343     Document Type: Article

References (40)

1. National Cholesterol Education Program. 1993. Second report of the expert panel on detection, evaluation, and treatment of high blood cholesterol in adults. National Institutes of Health Publication No. 93-3095.
2. Grundy, S.M. 1991. George Lyman Duff Memorial Lecture. Multifactorial etiology of hypercholesterolemia. Implications for prevention of coronary heart disease. Arterioscler. Thromb. 11:1619-1635.
3. Perusse, L., J.-P. Despres, A. Tremhlay, C. Leblanc, J. Talbot, C. Allard, and C. Bouchard. 1989. Genetic and environmental determinants of serum lipids and lipoproteins in French Canadian families. Arteriosclerosis. 9:308-318.
4. Rice, T., G.P. Vogler, T.S. Perry, P.M. Laskarzewski, and D.C. Rao. 1991. Familial aggregation of lipids and lipoproteins in families ascertained through random and nonrandom probands in the Iowa Lipid Research Clinics Family Study. Hum. Hered. 41:107-121.
5. Austin, M.A., M.C. King, R.D. Bawol S.B. Hulley, and G.D. Friedman. 1987. Risk factors for coronary heart disease in adult female twins. Genetic heritability and shared environmental influences. Am. J. Epidemiol. 125:308-318.
6. Bucher, K.D., Y. Friedlander, E.B. Kaplan, K.K. Namboodiri, J.D. Kark, S. Eisenberg, Y. Stein, and B.M. Rifkind. 1988. Biological and cultural sources of familial resemblance in plasma lipids: a comparison between North America and Israel - the Lipid Research Clinics Program. Genet. Epidemiol. 5:17-33.
7. Goldstein, J.L., H.H. Hohbs, and M.S. Brown. 1995. Familial hypercholesterolemia. In The Metabolic and Molecular Basis of Inherited Disease. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw-Hill Inc., New York. 1981-2030.
8. Myant, N.B. 1993. Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. Atherosclerosis 104:1-18.
9. Linton, M.F., R.V. Farese, Jr., and S.G. Young. 1993. Familial hypobetalipoproteinemia. J. Lipid Res. 34:521-541.
10. Humphries, S., D.A. Coviello, P. Masturzo, R. Balestreri, G. Orecchini, and S. Bertolini. 1991. Variation in the low density lipoprotein receptor gene is associated with differences in plasma low density lipoprotein cholesterol levels in young and old normal individuals from Italy. Anterioscler. Thromb. 11:509-516.
11. Gaffney, D., D.J. Freeman, J. Shepherd, and C.J. Packard. 1993. The ins/del polymorphism in the signal sequence of apolipoprotein B has no effect on lipid parameters. Clin. Chim. Acta. 218:131-138.
12. Hansen, P.S., L.U. Gerdes, I.C. Klausen, N. Gregersen, and O. Faergeman. 1993. Polymorphisms in the apolipoprotein B-100 gene contributes to normal variation in plasma lipids in 464 Danish men born in 1948. Hum. Genet. 91: 45-50.
13. Klausen, I.C., P.S. Hansen, L.U. Gerdes, N. Rudiger, N. Gregersen, and O. Faergeman. 1993. A Pvull polymorphism of the low density lipoprotein receptor gene is not associated with plasma concentrations of low density lipoproteins including LP(a). Hum. Genet. 91:193-195.
14. de Knijff, P., A.M. van den Maagdenberg, R.R. Frants, and L.M. Havekes. 1994. Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels. Hum. Mut. 4:178-194.
15. Boerwinkle, E., and C.F. Sing. 1987. The use of measured genotype information in the analysis of quantitative phenoiypes in man. III. Simultaneous estimation of the frequencies and effects of the apolipoprotein E polymorphism and residual polvgenetic effects on cholesterol, betalipoprotein and triglyceride levels. Ann. Hum. Genet. 51:211-226.
16. Superko, H.R., P. Greenland, R.A. Manchester, N.A. Andreadis, G. Schectman, N.H, West, D. Hunninghake, W.L. Haskell, and J.L. Probstfield. 1992. Effectiveness of low-dose colestipol therapy in patients with moderate hypercholeslerolemia. Am. J. Cardiol. 70:135-140.
17. Vessby, B., G. Kostner, H. Lithell, and J. Thomis. 1982. Diverging effects of cholestyramine on apolipoprotein B and lipoprotein Lp(a). A dose-response study of the effects of cholestyramine in hypercholesterolaemia. Atherosclerosis. 44:61-71.
18. Glueck, C.J., S. Ford, Jr., D. Scheel, and P. Steiner. 1972. Colestipol and cholestyramine resin. Comparative effects in familial type II hyperlipoproteinemia. JAMA. 222:676-681.
19. Jones, R.J., and L. Dobrilovic. 1970. Lipoprotein lipid alterations with cholestyramine administration. J Lab. Clin. Med. 75:953-966.
20. Miller, N.E., P. Clifton-Bligh, and P.J. Nestel. 1973. Effects of colestipol, a new bile-acid-sequestering resin, on cholesterol metabolism in man. J. Lab. Clin. Med. 82:876-890.
21. Warnick, G.R., M.C. Cheung, and J.J. Albers. 1983. Comparison of current methods for high-density lipoprotein cholesterol quantitation. Clin. Chem. 29:538-542.
22. Friedewald, W.T., R.I. Levy, and D.S. Fredrickson. 1972. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin. Chem. 18:499-502.
23. Sandkamp, M., B. Tambyrajah, H. Schriewer, and G. Assmann. 1988. Simplified turbidimetric determination of apolipoproteins A-I, A-II and B using a microtitre method. J. Clin. Chem. Clin. Biochcm. 26:685-688.
24. Marcovina, S.M., J.J. Albers, H. Kennedy, J.V. Mei, L.O. Henderson, and W.H. Hannon. 1994. International Federation of Clinical Chemistry standardization project for measurements of apolipoproteins A-I and B. IV. Comparability of apolipoprotein B values by use of International Reference Material. Clin. Chem. 40:586-592.
25. Johns Hopkins University (1997). The Genome Database [online]. Available: http://gdhwww.gdb.org
26. Applied Biosystems International PRISM™. 1997. Dye Terminator Cycle sequencing ready reaction kit Protocol. Protocol # 4020178.
27. Falconer, D.S. 1989. Introduction to Quantitative Genetics. Longman Group UK Ltd., Harlow, United Kingdom. 148-186.
28. Haseman, J.K., and R.C Elston. 1972. The investigation of linkage between a quantitative trait and a marker locus. Behav. Genet. 2:3-19.
29. Guerra, R., J.P. Wang, S.M. Grundy, and J.C. Cohen. 1997. A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol. Proc. Natl. Acad. Sci. USA. 94:4532-4537.
30. Hopper, J.L., and J.D. Mathews. 1982. Extensions to multivariate normal models for pedigree analysis. Ann. Hum. Genet. 46:373-383.
31. Amos, C.I. 1994. Robust variance-components approach for assessing genetic linkage in pedigrees. Am. J. Hum. Genet. 54:535-543.
32. Amos, C.I., D.K. Zhu, and E. Boerwinkle. 1996. Assessing genetic linkage and association wilh robust components of variance approaches. Ann. Hum. Genet. 60:143-160.
33. Blackwelder, W.C., and R.C. Elston. 1982. Power and robustness of sibpair linkage test and extension to larger sibships. Commun. Statis. 11:449-484.
34. Wan, Y., J. Cohen, and R. Guerra. 1997. A permutation test for the robust sib-pair linkage method. Ann. Hum. Genet. 61:79-87.
35. Stoesz, M.R., J.C. Cohen, V. Mooser, S. Marcovina, and R. Guerra. 1997. Extension of the Haseman-Elston method to multiple alleles and multiple loci. Theory and practice for candidate genes. Ann. Hum. Genet. 61:263-274.
36. Reihner, E., I. Bjorkhem, B. Angelin, S. Ewerth, and K. Einarsson. 1989. Bile acid synthesis in humans: regulation of hepatic microsomal cholesterol 7 alpha-hydroxylase activity. Gastroenterology. 97:1498-1505.
37. Bjorkhem, I., E. Reihner, B. Angelin, S. Ewerth, J.E. Akerlund, and K. Einarsson. 1987. On the possible use of the serum level of 7 alpha-hydroxycholestcrol as a marker for increased activity of the cholesterol 7 alpha-hydroxylase in humans. J. Lipid Res. 28:889-894.
38. Machleder, D., B. Ivandic, C. Welch, L. Castellani, K. Reue, and A.J. Lusis. 1997. Complex genetic control of HDL levels in mice in response to an atherogenic diet. Coordinate regulation of HDL levels and bile acid metabolism, J. Clin. Invest. 99:1406-1419.
39. Ludwig, E.H., P.N. Hopkins, A. Allen, L.L. Wu, R.R. Williams, J.L. Anderson, R.H. Ward, J.M. Lalouel, and T.L. Innerarity. 1997. Association of genetic variations in apolipoprotein B with hypercholesterolemia, coronary artery disease, and receptor binding of low density lipoproteins. J. Lipid Res. 38: 1361-1373.
40. Gavish, D., E.A. Brinton, and J.L. Breslow. 1989. Heritable allele-specific differences in amounts of apoB and low-density lipoproteins in plasma. Science: 244:72-76.