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3 - Genetics of carotid atherosclerosis

from Background

Published online by Cambridge University Press:  03 December 2009

By
Stephen S. Rich  and
Donna K. Arnett
Edited by
Jonathan Gillard ,
Martin Graves ,
Thomas Hatsukami  and
Chun Yuan
Stephen S. Rich
Affiliation:
Wake Forest University School of Medicine, Winston-Salem, NC, USA
Donna K. Arnett
Affiliation:
University of Alabama at Birmingham School of Public Health, Birmingham, AL, USA
Jonathan Gillard
Affiliation:
University of Cambridge
Martin Graves
Affiliation:
University of Cambridge
Thomas Hatsukami
Affiliation:
University of Washington
Chun Yuan
Affiliation:
University of Washington
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Summary

Introduction

Carotid atherosclerosis is a multifactorial phenotype that is the end product of an array of genetic and environmental causes. The number of cell types and factors that influence the interaction of inflammatory, metabolic and hemodynamic mechanisms is likely to be large. Each of these processes may have both “public” and “private” genetic determinants. Increasing knowledge of genes, their sequence variation, and their expression has provided novel insights regarding the contribution of individual genetic factors to atherosclerosis risk and potential biological pathways that mediate that risk.

Human genetic research has a recent history, starting from Mendel's reading of his paper, “Experiments on Plant Hybridization,” in 1865 and publication in 1866. Mapping and identification of genes for human traits require three essential ingredients – a heritable trait, biological material (DNA), and DNA polymorphisms. DNA polymorphisms are heritable markers that can be scored in human populations. Many of the early investigations in human genetics were restricted to Mendelian (single gene) disorders in families that exhibited either dominant or recessive inheritance patterns. The DNA polymorphisms were restricted to blood group or serological markers, and were relatively infrequent in the human genome. Human genetic studies were revolutionized by the development of a new class of markers (restriction fragment length polymorphisms, RFLPs) and an analytic framework to enhance gene discovery (Botstein et al., 1980).

Keywords

carotid atherosclerosisgene discoverygenomewide linkageheritabilitystromelysinmatrix metalloproteinasesintima media thickness
Type
Chapter
Information
Carotid Disease
The Role of Imaging in Diagnosis and Management
 , pp. 35 - 44
Publisher: Cambridge University Press
Print publication year: 2006

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References

Altshuler, D., Brooks, L. D., Chakravarti, A., et al. (2005). A haplotype map of the human genome. Nature, 437, 1299–320.Google Scholar
Botstein, D., White, R. L., Skolnick, M. and Davis, R. W. (1980). Construction of a genetic linkage map in man using restriction fragment length polymorphisms. American Journal of Human Genetics, 32, 314–31.Google ScholarPubMed
Chumakov, I., Blumenfeld, M., Guerassimenko, O., et al. (2002). Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proceedings of the National Academy of Science UltrasoundA, 99, 13675–80.CrossRefGoogle Scholar
Duggirala, R., Gonzalez Villalpando, C., O'Leary, D. H., Stern, M. P. and Blangero, J. (1996). Genetic basis of variation in carotid artery wall thickness. Stroke, 27, 833–77.CrossRefGoogle ScholarPubMed
Fox, C. S., Polak, J. F., Chazaro, I., et al. (2003). Genetic and environmental contributions to atherosclerosis phenotypes in men and women: heritability of carotid intima-media thickness in the Framingham Heart Study. Stroke, 34, 397–401.CrossRefGoogle ScholarPubMed
Fox, C. S., Cupples, L. A., Chazaro, I., et al. (2004). Genomewide linkage analysis for internal carotid artery intimal medial thickness: evidence for linkage to chromosome 12. American Journal of Human Genetics, 74, 253–61.CrossRefGoogle ScholarPubMed
Galis, Z. S., Sukhova, G. K., Lark, M. W. and Libby, P. (1994). Increased expression of matrix metalloproteinases and matrix degrading activity in vulnerable regions of human atherosclerotic plaques. Journal of Clinical Investigation, 94, 2493–503.CrossRefGoogle ScholarPubMed
Gnasso, A., Motti, C., Irace, C., et al. (2000). Genetic variation in human stromelysin gene promoter and common carotid geometry in healthy male subjects. Arteriosclerosis, Thrombosis and Vascular Biology, 20, 1600–5.CrossRefGoogle ScholarPubMed
Hamanishi, T., Furuta, H., Kato, H., et al. (2004). Functional variants in the glutathione peroxidase-1 (Glutathione peroxidase-1) gene are associated with increased intima-media thickness of carotid arteries and risk of macrovascular diseases in Japanese type 2 diabetic patients. Diabetes, 53, 2455–60.CrossRefGoogle ScholarPubMed
Hodis, H. N., Mack, W. J., LaBree, L., et al. (1998). The role of carotid arterial intima-media thickness in predicting clinical coronary events. Annals of Internal Medicine, 128, 262–9.CrossRefGoogle ScholarPubMed
Hopkins, P. N. and Williams, R. R. (1986). Identification and relative weight of cardiovascular risk factors. Cardiology Clinic, 4, 3–31.Google ScholarPubMed
Hopkins, P. N., Williams, R. R., Kuida, H., et al. (1988). Family history as an independent risk factor for incident coronary artery disease in a high-risk cohort in Utah. American Journal of Cardiology, 62, 703–7.CrossRefGoogle Scholar
Howard, G., Burke, G. L., Evans, G. W., et al. (1994). Relations of intimal-medial thickness among sites within the carotid artery as evaluated by B-mode ultrasound. Atherosclerosis Risk in Communities. Stroke, 25, 1581–7.CrossRefGoogle ScholarPubMed
Hugot, J. P., Chamaillard, M., Zouali, H., et al. (2001). Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature, 411, 599–603.CrossRefGoogle ScholarPubMed
Humphries, S. E., Martin, S., Cooper, J. and Miller, G. (2002). Interaction between smoking and the stromelysin-1 (MMP3) gene 5A/6A promoter polymorphism and risk of coronary heart disease in healthy men. Annals of Human Genetics, 66, 343–52.CrossRefGoogle ScholarPubMed
Hunt, K. J., Duggirala, R., Goring, H. H., et al. (2002). Genetic basis of variation in carotid artery plaque in the San Antonio Family Heart Study. Stroke, 33, 2775–80.CrossRefGoogle ScholarPubMed
Juo, S. H., Lin, H. F., Rundek, T., et al. (2004). Genetic and environmental contributions to carotid intima-media thickness and obesity phenotypes in the Northern Manhattan Family Study. Stroke, 35, 2243–7.CrossRefGoogle ScholarPubMed
Juo, S. H., Rundek, T., Lin, H. F., et al. (2005). Heritability of carotid artery distensibility in Hispanics: the Northern Manhattan Family Study. Stroke, 36, 2357–61.CrossRefGoogle ScholarPubMed
Lange, L. A., Bowden, D. W., Langefeld, C. D., et al. (2002). Heritability of carotid artery intima-medial thickness in type 2 diabetes. Stroke, 33, 1876–81.CrossRefGoogle ScholarPubMed
Medley, T. L., Kingwell, B. A., Gatzka, C. D., Pillay, P. and Cole, T. J. (2003). Matrix metalloproteinase-3 genotype contributes to age-related aortic stiffening through modulation of gene and protein expression. Circulation Research, 92, 1254–61.CrossRefGoogle ScholarPubMed
Nickerson, D. A., Taylor, S. L., Weiss, K. M., et al. (1998). Deoxyribonucleic acid sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nature Genetics, 19, 233–40.CrossRefGoogle Scholar
O'Leary, D. H., Polak, J. F., Kronmal, R. A., et al. (1999). Carotid-artery intima and media thickness as a risk factor for myocardial infarction and stroke in older adults. Cardiovascular Health Study Collaborative Research Group. New England Journal of Medicine, 340, 14–22.CrossRefGoogle ScholarPubMed
Pankow, J. S., Heiss, G., Evans, G. W., et al. (2004). Familial aggregation and genome-wide linkage analysis of carotid artery plaque: the NHLBI family heart study. Human Heredity, 57, 80–9.CrossRefGoogle ScholarPubMed
Rauramaa, R., Vaisanen, S. B., Luong, L. A., et al. (2000). Stromelysin-1 and interleukin-6 gene promoter polymorphisms are determinants of asymptomatic carotid artery atherosclerosis. Arteriosclerosis, Thrombosis and Vascular Biology, 20, 2657–62.CrossRefGoogle ScholarPubMed
Sayed-Tabatabaei, F. A., Rijn, M. J., Schut, A. F., et al. (2005). Heritability of the function and structure of the arterial wall: findings of the Erasmus Rucphen Family (Erasmus rucphen family) study. Stroke, 36, 2351–6.CrossRefGoogle ScholarPubMed
Schildkraut, J. M., Myers, R. H., Cupples, L. A., Kiely, D. K. and Kannel, W. B. (1989). Coronary risk associated with age and sex of parental heart disease in the Framingham Study. American Journal of Cardiology, 64, 555–9.CrossRefGoogle ScholarPubMed
Sellers, A. and Murphy, G. (1981). Collagenolytic enzymes and their naturally occurring inhibitors. International Review of Connective Tissue Research, 9, 151–90.CrossRefGoogle ScholarPubMed
Swan, L., Birnie, D. H., Inglis, G., Connell, J. M. and Hillis, W. S. (2003). The determination of carotid intima medial thickness in adults – population-based twin study. Atherosclerosis, 166, 137–41.CrossRefGoogle ScholarPubMed
Eerdewegh, P., Little, R. D., Dupuis, J., et al. (2002). Associationof the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature, 418, 426–30.CrossRefGoogle Scholar
Wang, D., Yang, H., Quinones, M. J., et al. (2005). A genome-wide scan for carotid artery intima-media thickness: the Mexican-American Coronary Artery Disease family study. Stroke, 36, 540–5.CrossRefGoogle ScholarPubMed
Williams, R. R., Hunt, S. C., Heiss, G., et al. (2001). Usefulness of cardiovascular family history data for population-based preventive medicine and medical research (the Health Family Tree Study and the NHLBI Family Heart Study). American Journal of Cardiology, 87, 129–35.CrossRefGoogle Scholar
Wolfsberg, T. G., Wetterstrand, K. A., Guyer, M. S., Collins, F. S. and Baxevanis, A. D. (2003). A user's guide to the human genome. Nature Genetics, 35 (Suppl. 1), 4.CrossRefGoogle Scholar
Xiang, A. H., Azen, S. P., Buchanan, T. A., et al. (2002). Heritability of subclinical atherosclerosis in Latino families ascertained through a hypertensive parent. Arteriosclerosis, Thrombosis and Vascular Biology, 22, 843–8.CrossRefGoogle ScholarPubMed

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