The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke

Nature Genetics - Tập 36 Số 3 - Trang 233-239 - 2004
Anna Helgadóttir1, Andrei Manolescu1, Guðmar Þorleifsson1, Sólveig Grétarsdóttir1, Helga Jónsdóttir1, Unnur Þorsteinsdóttir1, Nilesh J. Samani2, Guðmundur H. Guðmundsson1, Struan F.A. Grant1, Guðmundur Þorgeirsson3, Sigurlaug Sveinbjörnsdóttir3, Einar Már Valdimarsson3, Stefán E. Matthíasson3, Halldor Jóhannsson3, Olof Gudmundsdottir1, Mark E. Gurney1, Jesús Sainz1, Margret Thorhallsdottir1, Margrét B. Andrésdóttir1, Michael L. Frigge1, Eric J. Topol4, Augustine Kong1, Vilmundur Guðnason5, Hákon Hákonarson1, Jeffrey R. Gulcher1, Kári Stéfansson1
1deCODE genetics, Sturlugata 8, Reykjavik, Iceland
2Department of Cardiovascular Sciences, University of Leicester, Glenfield Hospital, Leicester, UK
3National University Hospital, Reykjavik, Iceland.
4Cleveland Clinic Foundation, Cleveland, Ohio USA
5Icelandic Heart Association, Reykjavik, Iceland

Tóm tắt

Từ khóa


Tài liệu tham khảo

Bonow, R.O., Smaha, L.A., Smith, S.C. Jr., Mensah, G.A. & Lenfant, C. World Heart Day 2002: the international burden of cardiovascular disease: responding to the emerging global epidemic. Circulation 106, 1602–1605 (2002).

Heart Disease and Stroke Statistics, 2003 Update (American Heart Association, Dallas, Texas, 2002).

Lusis, A.J. Atherosclerosis. Nature 407, 233–241 (2000).

Libby, P. Inflammation in atherosclerosis. Nature 420, 868–874 (2002).

Stratford, N., Britten, K. & Gallagher, P. Inflammatory infiltrates in human coronary atherosclerosis. Atherosclerosis 59, 271–276 (1986).

Poole, J.C. & Florey, H.W. Changes in the endothelium of the aorta and the behaviour of macrophages in experimental atheroma of rabbits. J. Pathol. Bacteriol. 75, 245–251 (1958).

Topol, E.J. et al. Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarction. Circulation 104, 2641–2644 (2001).

Ozaki, K. et al. Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat. Genet. 32, 650–654 (2002).

Yamada, Y. et al. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N. Engl. J. Med. 347, 1916–1923 (2002).

Broeckel, U. et al. A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat. Genet. 30, 210–214 (2002).

Francke, S. et al. A genome-wide scan for coronary heart disease suggests in Indo-Mauritians a susceptibility locus on chromosome 16p13 and replicates linkage with the metabolic syndrome on 3q27. Hum. Mol. Genet. 10, 2751–2765 (2001).

Harrap, S.B. et al. Genome-wide linkage analysis of the acute coronary syndrome suggests a locus on chromosome 2. Arterioscler. Thromb. Vasc. Biol. 22, 874–878 (2002).

Pajukanta, P. et al. Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am. J. Hum. Genet. 67, 1481–1493 (2000).

Wang, L., Fan, C., Topol, S.E., Topol, E.J. & Wang, Q. Mutation of MEF2A in an inherited disorder with features of coronary artery disease. Science 302, 1578–1581 (2003).

Dixon, R.A. et al. Requirement of a 5-lipoxygenase-activating protein for leukotriene synthesis. Nature 343, 282–284 (1990).

Mehrabian, M. et al. Identification of 5-lipoxygenase as a major gene contributing to atherosclerosis susceptibility in mice. Circ. Res. 91, 120–126 (2002).

Brezinski, D.A., Nesto, R.W. & Serhan, C.N. Angioplasty triggers intracoronary leukotrienes and lipoxin A4. Impact of aspirin therapy. Circulation 86, 56–63 (1992).

Spanbroek, R. et al. Expanding expression of the 5-lipoxygenase pathway within the arterial wall during human atherogenesis. Proc. Natl. Acad. Sci. USA 100, 1238–1243 (2003).

The World Health Organization MONICA Project (monitoring trends and determinants in cardiovascular disease): a major international collaboration. WHO MONICA Project Principal Investigators. J. Clin. Epidemiol. 41, 105–14 (1988).

Koshino, T. et al. Novel polymorphism of the 5-lipoxygenase activating protein (FLAP) promoter gene associated with asthma. Mol. Cell. Biol. Res. Commun. 2, 32–35 (1999).

Sala, A., Bolla, M., Zarini, S., Muller-Peddinghaus, R. & Folco, G. Release of leukotriene A4 versus leukotriene B4 from human polymorphonuclear leukocytes. J. Biol. Chem. 271, 17944–17948 (1996).

Dahinden, C.A., Clancy, R.M., Gross, M., Chiller, J.M. & Hugli, T.E. Leukotriene C4 production by murine mast cells: evidence of a role for extracellular leukotriene A4. Proc. Natl. Acad. Sci. USA 82, 6632–6636 (1985).

Fiore, S. & Serhan, C.N. Formation of lipoxins and leukotrienes during receptor-mediated interactions of human platelets and recombinant human granulocyte/macrophage colony-stimulating factor-primed neutrophils. J. Exp. Med. 172, 1451–1457 (1990).

Ford-Hutchinson, A.W. Leukotriene B4 in inflammation. Crit. Rev. Immunol. 10, 1–12 (1990).

Samuelsson, B. Leukotrienes: mediators of immediate hypersensitivity reactions and inflammation. Science 220, 568–575 (1983).

Burke, J.A., Levi, R., Guo, Z.G. & Corey, E.J. Leukotrienes C4, D4 and E4: effects on human and guinea-pig cardiac preparations in vitro. J. Pharmacol. Exp. Ther. 221, 235–241 (1982).

Roth, D.M. & Lefer, A.M. Studies on the mechanism of leukotriene induced coronary artery constriction. Prostaglandins 26, 573–581 (1983).

Wargovich, T., Mehta, J., Nichols, W.W., Pepine, C.J. & Conti, C.R. Reduction in blood flow in normal and narrowed coronary arteries of dogs by leukotriene C4. J. Am. Coll. Cardiol. 6, 1047–1051 (1985).

Falk, E., Shah, P.K. & Fuster, V. Coronary plaque disruption. Circulation 92, 657–671 (1995).

Dwyer, J.H. et al. Arachidonate 5-Lipoxygenase Promoter Genotype, Dietary Arachidonic Acid, and Atherosclerosis. N. Engl. J. Med. 350, 29–37 (2004).

Aiello, R.J. et al. Leukotriene B4 receptor antagonism reduces monocytic foam cells in mice. Arterioscler. Thromb. Vasc. Biol. 22, 443–449 (2002).

Gretarsdottir, S. et al. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat. Genet. 35, 131–138 (2003).

Gretarsdottir, S. et al. Localization of a susceptibility gene for common forms of stroke to 5q12. Am. J. Hum. Genet. 70, 593–603 (2002).

Gudmundsson, G. et al. Localization of a gene for peripheral arterial occlusive disease to chromosome 1p31. Am. J. Hum. Genet. 70, 586–592 (2002).

Gulcher, J.R., Kristjansson, K., Gudbjartsson, H. & Stefansson, K. Protection of privacy by third-party encryption in genetic research in Iceland. Eur. J. Hum. Genet. 8, 739–742 (2000).

Kong, A. & Cox, N.J. Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet. 61, 1179–1188 (1997).

Gudbjartsson, D.F., Jonasson, K., Frigge, M.L. & Kong, A. Allegro, a new computer program for multipoint linkage analysis. Nat. Genet. 25, 12–13 (2000).

Kong, A. et al. A high-resolution recombination map of the human genome. Nat. Genet. 31, 241–247 (2002).

Whittemore, A.S. & Halpern, J. A class of tests for linkage using affected pedigree members. Biometrics 50, 118–127 (1994).

Kruglyak, L., Daly, M.J., Reeve-Daly, M.P. & Lander, E.S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58, 1347–1363 (1996).

Nicolae, D. Allele Sharing Models in Gene Mapping: A Likelihood Approach (University of Chicago, 1999).

Dempster, A., Laird, N.M. & Rubin, D.B. Maximum likelihood from incomplete data via the EM algorithm. J. R. Stat. Soc. B 39, 1–38 (1977).

Terwilliger, J.D. & Ott, J. A haplotype-based 'haplotype relative risk' approach to detecting allelic associations. Hum. Hered. 42, 337–346 (1992).

Falk, C.T. & Rubinstein, P. Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann. Hum. Genet. 51 Pt 3, 227–233 (1987).

Lewontin, R.C. The interaction of selection and linkage. ii. Optimum models. Genetics 50, 757–782 (1964).

Hill, W.G. & Robertson, A. The effects of inbreeding at loci with heterozygote advantage. Genetics 60, 615–628 (1968).

Chen, X., Zehnbauer, B., Gnirke, A. & Kwok, P.Y. Fluorescence energy transfer detection as a homogeneous DNA diagnostic method. Proc. Natl. Acad. Sci. USA 94, 10756–10761 (1997).

Steeds, R., Adams, M., Smith, P., Channer, K. & Samani, N.J. Distribution of tissue plasminogen activator insertion/deletion polymorphism in myocardial infarction and control subjects. Thromb. Haemost. 79, 980–984 (1998).

Brouilette, S., Singh, R.K., Thompson, J.R., Goodall, A.H. & Samani, N.J. White cell telomere length and risk of premature myocardial infarction. Arterioscler. Thromb. Vasc. Biol. 23, 842–846 (2003).

Nomenclature and criteria for diagnosis of ischemic heart disease. Report of the Joint International Society and Federation of Cardiology/World Health Organization task force on standardization of clinical nomenclature. Circulation 59, 607–609 (1979).