References for Post-PTCA Restenosis

References for post-PTCA Restenosis

(Zee RYL et al. Multi-locus interactions predict risk for post-PTCA restenosis: an approach to the genetic analysis of common complex disease. Pharmacogenomics J 2002;2:197-201)

Coagulation/Thrombosis

Factor II [F2], chromosome 11p11-q12

G20210A:

Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-3703

Rosendaal FR, Siscovick DS, Schwartz SM, Psaty BM, Raghunathan TE, Vos HL. A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood 1997;90:1747-1750

De Stefano V, Chiusolo P, Paciaroni K, Casorelli I, Rossi E, Molinari M, Servidei S, Tonali PA, Leone G. Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients. Blood 1998;91:3562-3565

Factor V [FV], chromosome 1q21-25

R506Q:

Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-67

Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. New Eng J Med 1995;332:912-917

Kalafatis M, Mann KG. Factor V Leiden and thrombophilia. Arterioscler Thromb Vasc Biol 1997;17:620-627

Factor VII [F7], chromosome 13q34

(-323)10-bp del/ins:

Marchetti G, Patracchini P, Papacchini M, Ferrati M, Bernardi F. A polymorphism in the 5' region of coagulation factor VII gene (F7) caused by an inserted decanucleotide. Hum Genet 1993;90:575-576

Humphries S, Temple A, Lane A, Green F, Cooper J, Miller G. Low plasma levels of factor VIIc and antigen are more strongly associated with the 10 base pair promoter (-323) insertion than the glutamine 353 variant. Thromb Haemost 1996;75:567-572

R353Q:

Green F, Kelleher C, Wilkes H, Temple A, Meade T, Humphries S. A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterio Thromb 1991;11:540-546

Fibrinogen, beta polypeptide [FGB], chromosome 4q28

G(-455)A:

Green F, Hamsten A, Blomback M, Humphries S. The role of b-fibrinogen genotype in determining plasma fibrinogen levels in young survivors of myocardial infarction and healthy controls from Sweden. Thromb Haemost 1993;70:915-20

Thomas A, Lamlum H, Humphries S, Green F. Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A-455 (HaeIII), C/T-148 (HindIII/AluI), T/G+1689 (AvaII), and BclI (beta-fibrinogen) and TaqI (alpha-fibrinogen), and their detection by PCR. Hum Mutat 1994;3:79-81

R448K:

Behague I, Poirier O, Nicaud V, Evans A, Arveiler D, Luc G, Cambou JP, Scarabin PY, Bara L, Green F, Cambien F. Beta fibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction. The ECTIM Study. Etude Cas-Temoins sur l'Infarctus du Myocarde. Circulation 1996;93:440-449

Plasminogen activator inhibitor, type 1 [PAI1], chromosome 7q21.3-22

G(-844)A, G11053T:

Henry M, Chomiki N, Scarabin PY, Alessi MC, Peiretti F, Arveiler D, Ferrières J, Evans A, Amouyel P, Poirier O, Cambien F, Juhan-Vague I. Five frequent polymorphisms of the PAI-1 gene. Arterioscler Thromb Vasc Biol 1997;17:851-858

(-675) 5G/4G:

Dawson SJ, Wiman B, Hamsten A, Green F, Humphries S, Henney AM. The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. J Biol Chem 1993;268:10739-10745

Roest M, van der Schouw YT, Banga JD, Tempelman MJ, de Groot PG, Sixma JJ, Grobbee DE. Plasminogen activator inhibitor 4G polymorphism is associated with decreased risk of cerebrovascular mortality in older women. Circulation 2000;101:67-70

Platelet glycoprotein Ia [ITGA2], chromosome 5q23-31

G873A:

Kunicki TJ, Kritzik M, Annis DS, Nugent DJ. Hereditary variation in platelet integrin a2b1 density is associated with two silent polymorphisms in the a2 gene coding sequence. Blood 1997;89:1939-1943

Moshfegh K, Wuillemin WA, Redondo M, Lämmle B, Beer JH, Liechti-Gallati S, Meyer BJ. Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of myocardial infarction: a case-control study. Lancet 1999;353:351-354

Platelet glycoprotein IIIa [ITGB3], chromosome 17q21.32

L33P:

Newman PJ, Derbes RS, Aster RH. The human platelet alloantigens, PlA1 and PlA2, are associated with a leucine33/proline33 amino acid polymorphism in membrane glycoprotein IIIa, and are distinguishable by DNA typing. J Clin Invest 1989;83:1778-1781

Jin Y, Dietz HC, Nurden A, Bray PF. Single-strand conformation polymorphism analysis is a rapid and effective method for the identification of mutations and polymorphisms in the gene for glycoprotein IIIa. Blood 1993;82:2281-2288

Weiss EJ, Bray PF, Tayback M, Schulman SP, Kickler TS, Becker LC, Weiss JL, Gerstenblith G, Goldschmidt-Clermont PJ. A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis. N Engl J Med 1996;334:1090-1094

Ridker PM, Hennekens CH, Schmitz C, Stampfer MJ, Lindpaintner K. PIA1/A2 polymorphism of platelet glycoprotein IIIa and risks of myocardial infarction, stroke, and venous thrombosis. Lancet 1997;349:385-388

Lipid metabolism

Apolipoprotein(a) [LPA], chromosome 6q27

C93T, G121A:

Ichinose A, Kuriyama M. Detection of polymorphisms in the 5'-flanking region of the gene for apolipoprotein(a). Biochem Biophys Res Commun 1995;209:372-378

Suzuki K, Kuriyama M, Saito T, Ichinose A. Plasma lipoprotein(a) levels and expression of the apolipoprotein(a) gene are dependent on the nucleotide polymorphisms in its 5'-flanking region. J Clin Invest 1997;99:1361-1366

Kraft H-G, Windegger M, Menzel HJ, Utermann G. Significant impact of the +93 C/T polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but not in Caucasians: confounding effect of linkage disequilibrium. Hum Molec Genet 1998;7:257-264

Apolipoprotein AIV [APOA4], chromosome 11q23

T347S:

Jansen S, Lopez-Miranda J, Salas J, Ordovas JM, Castro P, Marin C, Ostos MA, Lopez-Segura F, Jimenez-Pereperez JA, Blanco A, Perez-Jimenez F. Effect of 347-serine mutation in apoprotein A-IV on plasma LDL cholesterol response to dietary fat. Arterioscler Thromb Vasc Biol 1997;17:1532-1538

E360H:

Lohse P, Kindt MR, Rader DJ, Brewer HB Jr. Genetic polymorphism of human plasma apolipoprotein A-IV is due to nucleotide substitutions in the apolipoprotein A-IV gene. J Biol Chem 1990;265:10061-10064

McCombs RJ, Marcadis DE, Ellis J, Weinberg RB. Attenuated hypercholesterolemic response to a high-cholesterol diet in subjects heterozygous for the apolipoprotein A-IV-2 allele. N Eng J Med 1994;331:706-710

Apolipoprotein B [APOB], chromosome 2p24

T71I:

Young SG, Hubl ST. An ApaLI restriction site polymorphism is associated with the MB19 polymorphism in apolipoprotein B. J Lipid Res 1989;30:443-449

Pullinger CR, Hennessy LK, Chatterton JE, Liu W, Love JA, Mendel CM, Frost PH, Malloy MJ, Schumaker VN, Kane JP. Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest 1995;95:1225-1234

R3500Q:

Soria LF, Ludwig EH, Clarke HR, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci U S A 1989;86:587-591

Humphries SE, Talmud PJ. Hyperlipidaemia associated with genetic variation in the apolipoprotein B gene. Curr Opin Lipidol 1995;6:215-222

Apolipoprotein CIII [APOC3], chromosome 11q23

C(-641)A, C(-482)T, T(-455)C:

Dammerman M, Sandkuijl LA, Halaas JL, Chung W, Breslow JL. An apolipoprotein CIII haplotype protective against hypertriglyceridemia is specified by promoter and 3' untranslated region polymorphisms. Proc Natl Acad Sci U S A 1993;90:4562-4566

C1100T, T3206G:

Xu CF, Talmud P, Schuster H, Houlston R, Miller G, Humphries S. Association between genetic variation at the Apo AI-CIII-AIV gene cluster and familial combined hyperlipidaemia. Clin Genet 1994;46:385-397

C3175G:

Rees A, Stocks J, Sharpe CR, Vella MA, Shoulders CC, Katz J, Jowett NI, Baralle FE, Galton DJ. Deoxyribonucleic acid polymorphism in the apolipoprotein A-I-C-III gene cluster. Association with hypertriglyceridemia. J Clin Invest 1985;76:1090-1095

Ordovas JM, Civeira F, Genest J Jr, Craig S, Robbins AH, Meade T, Pocovi M, Frossard PM, Masharani U, Wilson PW, et al. Restriction fragment length polymorphisms of the apolipoprotein A-I, C-III, A-IV gene locus. Relationships with lipids, apolipoproteins, and premature coronary artery disease. Atherosclerosis 1991;87:75-86

Apolipoprotein E [APOE], chromosome 19q13.2

C112R, R158C:

Mahley RW. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 1988;240:622-630

de Knijff P, van den Maagdenberg AM, Frants RR, Havekes LM. Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels. Hum Mutat 1994;4:178-194

Beta-3 adrenergic receptor [ADRB3], chromosome 8p12-11.2

W64R:

Walston J, Silver K, Bogardus C, Knowler WC, Celi FS, Austin S, Manning B, Strosberg AD, Stern MP, Raben N, Sorkin JD, Roth J, Shuldiner AR. Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the b3-adrenergic-receptor gene. N Eng J Med 1995;333:343-347

Widén E, Lehto M, Kanninen T, Walston J, Shuldiner AR, Groop LC. Association of a polymorphism in the b3-adrenergic-receptor gene with features of the insulin resistance syndrome in Finns. N Eng J Med 1995;333:348-351

Cholesteryl ester transfer protein [CETP], chromosome 16q21

C(-628)A:

Dachet C, Poirier O, Cambien F, Chapman JM. The –628 C/A polymorphism in the CETP promoter modulates plasma CETP mass and HDL cholesterol. Circulation 1998, p. I-739, abstract #3875

http://genecanvas.idf.inserm.fr, code 'Gene Canvas CETP-12/02/98'

I405V, G(+1)A, (+3)T insertion in intron 14, D442G:

Brown ML, Inazu A, Hesler CB, Agellon LB, Mann C, Whitlock ME, Marcel YL, Milne RW, Koizumi J, Mabuchi H, Takeda R, Tall AR. Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. Nature 1989;342:448-451

Inazu A, Jiang XC, Haraki T, Yagi K, Kamon N, Koizumi J, Mabuchi H, Takeda R, Takata K, Moriyama Y, et al. Genetic cholesteryl ester transfer protein deficiency caused by two prevalent mutations as a major determinant of increased levels of high density lipoprotein cholesterol. J Clin Invest 1994;94:1872-1882

Hepatic lipase [LIPH], chromosome 15q21-23

C(-480)T:

Guerra R, Wang J, Grundy SM, Cohen JC. A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol. Proc Natl Acad Sci USA 1997;94:4532-4537

Jansen H, Verhoeven AJM, Weeks L, Kastelein JJP, Halley DJJ, van den Ouweland A, Jukema JW, Seidell JC, Birkenhäger JC. Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activeity in coronary artery disease patients. Arterioscler Thromb Vasc Biol 1997;17:2837-2842

Lipoprotein lipase [LPL], chromosome 8p22

T(-93)G:

Yang WS, Nevin DN, Peng R, Brunzell JD, Deeb SS. A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc Natl Acad Sci U S A 1995;92:4462-4466; Published erratum appears in Proc Natl Acad Sci U S A 1996;93:524

Ehrenborg E, Clee SM, Pimstone SN, Reymer PW, Benlian P, Hoogendijk CF, Davis HJ, Bissada N, Miao L, Gagne SE, Greenberg LJ, Henry R, Henderson H, Ordovas JM, Schaefer EJ, Kastelein JJ, Kotze MJ, Hayden MR. Ethnic variation and in vivo effects of the -93t-->g promoter variant in the lipoprotein lipase gene. Arterioscler Thromb Vasc Biol 1997;17:2672-2678

Hall S, Chu G, Miller G, Cruickshank K, Cooper JA, Humphries SE, Talmud PJ. A common mutation in the lipoprotein lipase gene promoter, -93T/G, is associated with lower plasma triglyceride levels and increased promoter activity in vitro. Arterioscler Thromb Vasc Biol 1997;17:1969-1976

D9N:

Oka K, Tkalcevic GT, Nakano T, Tucker H, Ishimura-Oka K, Brown WV. Structure and polymorphic map of human lipoprotein lipase gene. Biochim Biophys Acta 1990;1049:21-26; Published erratum appears in Biochim Biophys Acta 1991;1090:357

Mailly F, Tugrul Y, Reymer PW, Bruin T, Seed M, Groenemeyer BF, Asplund-Carlson A, Vallance D, Winder AF, Miller GJ, Kastelein JJ, Hamsten A, Olivecrona G, Humphries SE, Talmud PJ. A common variant in the gene for lipoprotein lipase (Asp9-->Asn). Functional implications and prevalence in normal and hyperlipidemic subjects. Arterioscler Thromb Vasc Biol 1995;15:468-478

Jukema JW, van Boven AJ, Groenemeijer B, Zwinderman AH, Reiber JH, Bruschke AV, Henneman JA, Molhoek GP, Bruin T, Jansen H, Gagne E, Hayden MR, Kastelein JJ. The Asp9 Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis. REGRESS Study Group, Interuniversity Cardiology Institute, Utrecht, The Netherlands. Regression Growth Evaluation Statin Study. Circulation 1996;94:1913-1918

N291S:

Reymer PW, Groenemeyer BE, Gagne E, Miao L, Appelman EE, Seidel JC, Kromhout D, Bijvoet SM, van de Oever K, Bruin T, Hayden MR, Kastelein JJP. A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum Mol Genet 1995;4:1543-1549

Zhang H, Reymer PW, Liu MS, Forsythe IJ, Groenemeyer BE, Frohlich J, Brunzell JD, Kastelein JJ, Hayden MR, Ma Y. Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->Ser mutation in the human LPL gene. Arterioscler Thromb Vasc Biol 1995;15:1695-1703

S447ter:

Hata A, Robertson M, Emi M, Lalouel JM. Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucleic Acids Res 1990;18:5407-5411

Groenemeijer BE, Hallman MD, Reymer PW, Gagne E, Kuivenhoven JA, Bruin T, Jansen H, Lie KI, Bruschke AV, Boerwinkle E, Hayden MR, Kastelein JJ. Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group. Circulation 1997;95:2628-2635

Kuivenhoven JA, Groenemeyer BE, Boer JM, Reymer PW, Berghuis R, Bruin T, Jansen H, Seidell JC, Kastelein JJ. Ser447stop mutation in lipoprotein lipase is associated with elevated HDL cholesterol levels in normolipidemic males. Arterioscler Thromb Vasc Biol 1997;17:595-599

Low density lipoprotein receptor [LDLR], chromosome 19p13.2-13.1

NcoI site in exon 18:

Kotze MJ, Langenhoven E, Dietzsch E, Retief AE. A RFLP associated with the low-density lipoprotein receptor gene (LDLR). Nucleic Acids Res. 1987;15:376