The A370T variant (Stu I Polymorphism) in the LDL receptor gene is not associated with plasma lipid levels or cardiovascular risk in UK men

Annals of Human Genetics

Volumn 70, Issue 6, 2006, Pages 697-704

  Vieira, José Ricardo S ^a,b   Whittall, Ros A ^b   Cooper, Jackie A ^b   Miller, George J ^c   Humphries, Steve E ^b  

^a FEDERAL UNIVERSITY OF PARÁ   (Brazil)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

CHD; Cholesterol levels; LDL receptor; Stroke

Indexed keywords

LIPID; LOW DENSITY LIPOPROTEIN RECEPTOR; ENDODEOXYRIBONUCLEASE STUI; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ADULT; ARTICLE; BODY MASS; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CONFIDENCE INTERVAL; CONTROLLED STUDY; CORONARY ARTERY RECANALIZATION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HIGH RISK POPULATION; HOMOZYGOTE; HUMAN; ISCHEMIC HEART DISEASE; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROSPECTIVE STUDY; STATISTICAL SIGNIFICANCE; STROKE; UNITED KINGDOM; BLOOD; CEREBROVASCULAR ACCIDENT; CORONARY ARTERY DISEASE; GENETICS; HYPERLIPOPROTEINEMIA TYPE 2; MIDDLE AGED; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

BODY MASS INDEX; CEREBROVASCULAR ACCIDENT; CORONARY DISEASE; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; GENOTYPE; GREAT BRITAIN; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPIDS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, LDL; RISK FACTORS;

EID: 33749552162     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2006.00294.x     Document Type: Article

References (26)

1. Amsellem, S. Briffaut, D. Carrié, A. Rabès, J., Girardet, J., Fredenrich, A., Moulin, P., Krempf, M., Reznik, Y., Vialettes, B., Gennes, J., Brukert, E. & Benlian, P. (2002) Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. Hum Genet 111, 501-510.
2. Chaves, F. J., Puig, O., Garcia-Sogo, M., Real, J., Gil, J. V., Ascaso, J., Carmena, R. & Armengod, M. E. (1996) Seven DNA polymorphisms in the LDL receptor gene: Application to the study of familial hypercholesterolemia in Spain. Clin Genet 50 (1), 28-35.
3. Choong, M. L., Sethi, S. K. & Koay, E. S. (1998) The StuI polymorphism on exon 8 of the low density lipoprotein (LDL) receptor gene: Prevalence and impact on serum lipid levels in an Asian cohort. Ann Acad Med Singapore 27 (4), 503-506.
4. Dedoussis, G. V., Skoumas, J., Pitsavos, C., Choumerianou, D. M., Genschel, J., Schmidt, H. & Stefanadis, C. (2004) FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations. Eur J Clin Invest 34 (6), 402-409.
5. Defesche, J. C., Van Diermen, D. E., Hayden, M. R. & Kastelein, J. P. (1996) Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia. Gene Geogr 10 (1), 1-10.
6. El Messal, M., Ait Chihab, K., Chater, R., Vallve, J. C., Bennis, F., Hafidi, A., Ribalta, J., Varret, M., Loutfi, M., Rabes, J. P., Kettani, A., Boileau, C., Masana, L. & Adlouni, A. (2003) Familial hypercholesterolemia in Morocco: First report of mutations in the LDL receptor gene. J Hum Genet 48 (4), 199-203.
7. Frikke-Schmidt, R., Nordestgaard, B. G., Schnohr, P., Tybjaerg-Hansen, A. & Schmidt, R. (2004) Single nucleotide polymorphism in the low-density lipoprotein receptor is associated with a threefold risk of stroke. A case-control and prospective study. Eur Heart J 25 (11), 943-951.
8. Goldstein, J. L., Hobbs, H. H. & Brown, M. S. (1995) Familial hypercholesterolemia. In: The metabolic and molecular basis of inherited disease. (eds. C. R. Scriver, A. L. Beaudet, W. S. Sly & D. Valle), pp. 1981-2030. New York: McGraw-Hill.
9. Gudnason, V., Patel, D., Sun, X. M., Humphries, S., Soutar, A. K. & Knight, B. L. (1995) Effect of the StuI polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals. Clin Genet 47 (2), 68-74.
10. Heath, K. E., Whittal, R. A., Miller, G. J. & Humphries, S. (2000) I705 variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels. J Med Genet 37 (9), 713-715.
11. Heath, K. E., Gahan, M., Whittall, R. A. & Humphries, S. E. (2001) Low-density lipoprotein gene (LDLR) world-wide website in familial hypercolesterolaemia: Update, new features and mutations analysis. Atherosclerosis 154, 243-256.
12. Jeon, H. & Blacklow, S. C. (2005) Structure and Physiologic Function of the Low-Density Lipoprotein Receptor. Ann Rev Biochem 74, 535-562.
13. Kotze, M. J., Retief, A. E., Brink, P. A. & Weich, H. F. (1986) A DNA polymorphism in the human low-density lipoprotein receptor gene. S Afr Med J 19, 70 (2), 77-79.
14. Kotze, M. J., Langenhoven, E., Retief, A. E., Steyn, K., Marais, M. P., Grobbelaar, J. J., Oosthuizen, C. J., Weich, H. F. & Benade, A. J. (1987) Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia. J Med Genet 24 (12), 750-755.
15. Medical Research Council's Committee on Chronic Bronchitis and Questionnaire on respiratory symptoms (1995).
16. Miller, G. J., Bauer, K. A., Barzegar, S., Foley, A. J., Mitchell, J. P., Cooper, J. A. & Rosenberg, R. D. (1995) The effects of quality and timing of venepuncture on markers of blood coagulation in healthy middle-aged men. Thromb Haemost 73, 82-86
17. Miller, G. J., Bauer, K. A., Barzegar, S., Cooper, J. A. & Rosenberg, R. D. (1996) Increased activation of the haemostatic system in men at high risk of fatal coronary heart disease. Thromb Haemost 75, 767-771.
18. Miller, S. A., Dykes, D. D. & Polesky, H. F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16, 1215.
19. Miserez, A. R., Schuster, H., Chiodetti, N. & Keller, U. (1993) Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations. Am J Hum Genet 52 (4), 808-826.
20. Prineas, R. J., Crow, R. S. & Blackburn, H. (1982) The Minnesota Code Manual of Electrocardiographic findings. Boston, Mass: John Wright, P. S. C. Inc.
21. Salazar, L. A., Hirata, M. H., Cavalli, S. A., Nakandakare, E. R., Forti, N., Diament, J., Giannini, S. D., Bertolami, M. C. & Hirata, R. D. (2002) Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations. Hum Mutat 19 (4), 462-463.
22. Talmud, P. J., Hawe, E., Robertson, K., Miller, G. J., Miller, N. E. & Humphries, S. E. (2002) Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men. Ann Hum Genet 66, 111-124.
23. Villéger, L., Abifadel, M., Allard, D., Rabès, J. P., Thiart, R., Kotze, M. J., Béroud, C., Junien, C., Boileau, C. & Varret, M. (2002) The UMD-LDLR Database: Additions to the Software and 490 New Entries to the Database. Hum Mutat 20, 81-87.
24. Wang, J., Huff, E., Janecka, L. & Hegele, R. A. (2001) Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. Hum Mutat 18 (4), 359.
25. Weiss, N., Binder, G. & Keller, C. (1998) Heterozygosity for the missense mutation Ala370→Thr in exon 8 of the low density lipoprotein receptor gene does not cause hypercholesterolemia. Eur J Med Res 3 (1-2), 20-24.
26. World Health Organization Regional Office for Europe (1976) Myocardial Infarction Community Registers. Copenhagen, Denmark: World Health Organization; Public Health in Europe, No. 5.