Genetic test to determine non-responsiveness to statin drug...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C536S023100, C536S023500, C536S024100, C536S024300, C536S024330

Reexamination Certificate

active

06297014

ABSTRACT:

BACKGROUND OF THE INVENTION
Throughout this application various publications are referenced within parentheses. The disclosures of these publications in their entireties are hereby incorporated by reference in this application in order to more fully describe the state of the art to which this invention pertains.
1. The Field of the Invention
This invention relates to the medical arts. In particular, it relates to the field of genetic testing methods and diagnostic kits.
2. Discussion of the Related Art
Statin drugs—the most potent lipid-lowering agents currently available—are 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors. They include lovastatin, pravastatin, simvastatin, atorvastatin, fluvastatin, and cerivastatin. All these statin drugs share a common mechanism of action and have similar toxicity profiles. (E. von Kreutz and G. Schluter, Preclinical safety evaluation of cerivastatin, a novel HMG-CoA reductase inhibitor, Am. J. Cardiol. 82(4B):11J-17J [1998]; A. G. Ollson [1998]).
The statin drugs are effective in reducing the primary and secondary risk of coronary artery disease and coronary events, such as heart attack, in middle-aged and older men and women (under 76 years), in both diabetic and non-diabetic patients, and are often prescribed for patients with hyperlipidemia. (A. G. Ollson, Addressing the challenge, Eur. Heart J. Suppl. M:M29-35 [1998]; M. Kornitzer, Primary and secondary prevention of coronary artery disease: a follow-up on clinical controlled trials, Curr. Opin. Lipidol. 9(6):557-64 [1998]; M. Farnier and J. Davignon, Current and future treatment of hyperlipidemia: the role of statins, Am. J. Cardiol. 82(4B):3J-10J[1998]). Statins used in secondary prevention of coronary artery or heart disease significantly reduce the risk of stroke, total mortality and morbidity and attacks of myocardial ischemia; the use of statins is also associated with improvements in endothelial and fibrinolytic functions and decreased platelet thrombus formation. (M. Kornitzer [1998]; M. Farnier and J. Davignon, Current and future treatment of hyperlipidemia: the role of statins, Am. J. Cardiol. 82(4B):3J-10J [1998]).
The use of statin drugs has recently decreased the need for surgical coronary revascularization, known as coronary artery bypass graft (CABG). (B. M. Rifkind, Clinical trials of reducing low-density lipoprotein concentrations. Endocrinol. Metab. Clin. North Am. 27(3):585-95, viii-ix [1998]). But CABG is still a common surgical intervention for patients who develop atherosclerotic occlusion in coronary arteries. Approximately 12,000-14,000 CABG procedures are performed annually. (G. F. Neitzel et al., Atherosclerosis in Aortocoronary Bypass Grafts, Atherosclerosis 6(6):594-600 [1986]). The patient's own saphenous vein, or brachial or mammary artery, is used to bypass the affected coronary artery. The majority of CABG patients experience good long-term results, but 30-40% require a second CABG within 10-12 years after surgery, and continuing atherosclerosis in the graft is an important factor in late graft failure. (L. Campeau et al., The effect of aggressive lowering of low-density lipoprotein cholesterol levels and low-dose anticoagulation on obstructive changes in saphenous-vein coronary-artery bypass grafts, N. Eng. J. Med. 336(3):153-62 [1997]).
Atherosclerosis in bypass grafts is associated with elevated serum levels of very low density lipoproteins (VLDL), low density lipoprotein cholesterol (LDL-C), and triglycerides, and low levels of high density lipoprotein cholesterol (HDL-C). (J. T. Lie et al., Aortocoronary bypass saphenous vein atherosclerosis: Anatomic study of 99 vein grafts from normal and hyperlipoproteinemic patients up to 75 months postoperatively, Am. J. Cardiol. 40:906 [1977]; L. Campeau et al, The relation of risk factors to the development of atherosclerosis in saphenous vein bypass grafts and the progression of disease in the native circulation, N. Eng. J. Med. 311(21): 1329-32 [1984]). It is standard for CABG patients to be prescribed statin drugs to lower their serum LDL-C.
Lipid lowering therapy has been demonstrated to delay the progression of atherosclerosis in coronary arteries. (E.g., G. Brown et al., Regression of coronary artery disease as a result of intensive lipid lowering therapy in men with high levels of apolipoprotein B, N. Engl. J. Med. 323:1289-98 [1990]; J. P. Kane et al., Regression of coronary atherosclerosis during treatment of familial hypercholesterolemia with combined drug regimens, JAMA 264:3007-12 [1990]; Jukema et al., 1995). Prior to the Post-CABG Trial, few data were available to determine the efficacy of LDL-lowering therapy to delay the obstruction of saphenous-vein grafts. (D. H. Blankenhorn et al., Beneficial effects of combined colestipol-niacin therapy on coronary atherosclerosis and coronary venous bypass grafts, JAMA 257:3233-40 [1987]). Furthermore, thrombosis had also been observed to contribute to graft obstruction (G. F. Neitzel et al., Atherosclerosis in aortocoronary bypass grafts. morphologic study and risk factor analysis 6 to 12 years after surgery, Arteriosclerosis 6:594-600 [1986]). Low-dose anticoagulation therapy prevented emboli after major surgery (A. G. G. Turpie et al., Randomised comparison of two intensities of oral anticoagulant therapy after tissue heart valve replacement, Lancet 1:1242-45 [1988]; L. Poller et al., Fixed minidose warfarin: a new approach to prophylaxis against venous thrombosis after major surgery, Br. Med. J. 295:1309-12 [1987]), and this implied that low-dose anticoagulation treatment would also be able to delay graft obstruction.
Statin drug treatment beneficially affects the long-term outcome for most CABG patients. In a large clinical study, the Post-CABG Trial, CABG patients received statin drug treatment to lower serum LDL-C; in comparing patients who had received aggressive lovastatin treatment (LDL-C lowered to 93-97 mg/dl) to those who had only received moderate lovastatin treatment (LDL-C lowered to 132-136 mg/dl), the percentages of patients with atherosclerotic worsening of grafts within 4 years were 39% and 51%, respectively,. (L. Campeau et al. [1997]). The number of patients in the aggressive lovastatin-treatment group who required a second CABG procedure was 29% lower than the number in the moderate-treatment group.
In addition to serum lipid concentrations, there are other risk factors, that may have a genetic basis, and that may independently affect atherosclerotic coronary artery disease and occlusion of bypass grafts or that interact with statin treatment to lower serum lipids, which can affect atherosclerotic stenosis. Several laboratories have observed a link between variant alleles of the lipoprotein lipase gene (LPL) and the occurrence and/or progression of atherosclerosis. The involvement of LPL in coronary artery disease was suspected, since rare homozygotes for defects in this gene have type I hyperlipoproteinemia (OMIM 238600) and premature coronary artery disease. (P. Benlian et al., Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N. Engl. J. Med. 335:848-54 [1996]).
Lipoprotein lipase (LPL; E.C. 3.1.1.34), also known as triacylglycerol acylhydrolase, is a heparin-releasable glycoprotein enzyme bound to glycosaminoglycan components of macrophages and to the luminal surface of capillary epithelial cells in a variety of human tissues, including heart, skeletal muscle, adipose, lung, and brain. (K. L. Wion et al., Human lipoprotein lipase complementary DNA sequence, Science 235:1638 [1987]; C. Heizmann et al., DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels, Hum. Genet. 86:578-84 [1991]). Lipoprotein lipase is active as a dimer of identical subunits, e

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