Genotype Distribution of the Mutations in the Coagulation Factor V Gene in the Korean Population: Absence of Its Association with Coronary Artery Disease

  • Hong, Seung-Ho (Department of Science Education, Jeju National University of Education)
  • Published : 2003.09.01

Abstract

Mutations in the factor Ⅴ gene are major risk markers for venous thrombosis. Several factors for blood coagulation have been related with cardiovascular disease. Ⅰ investigated genotype distribution for three mutations (G1691 A, A2379G and G2391 A) of the factor Ⅴ gene in the Korean population. Genotype frequencies were examined by polymerase chain reaction in 135 patients with coronary artery disease (CAD) and 116 healthy subjects. For the G1691A mutation (factor Ⅴ

Keywords

References

  1. Arruda VR, Annichino-Bizzacchi JM, Costa F, and Reitsma PH (1995) Factor V Leiden (FVQ506) is common in a Brazilian population. Thromb Haemost 73: 1367
  2. Beauchamp NJ, Daly ME, Hampton KK, Cooper PC, Preston FE, and Peake IR (1994) High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis. Br J Haematol 88: 219-222 https://doi.org/10.1111/j.1365-2141.1994.tb05005.x
  3. Bertina RM, Koeleman BPC, Koster T, Rosendaal, FR, Dirven RJ, de Ronde H, van der Velden PA, and Reitsma PH (1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369: 64-67 https://doi.org/10.1038/369064a0
  4. Bockxmeer FM, Baker Rl, and Taylor RR (1995) Premature ischaemic heart disease and the gene for coagulation factor V. Nature Med 1: 185 https://doi.org/10.1038/nm0395-185
  5. Burick A, Wisotzkey JD, Najarian MP, Monk JS, and Rhoads JE (1997) The role of preoperative factor V Leiden screening in different geographic populations. Am Surg 63: 547-550
  6. Burkitt DP (1972) Varicose veins, deep vein thrombosis, and haemorrhoids: epidemiology and suggested aetiology. Br Med J 2: 556-561 https://doi.org/10.1136/bmj.2.5813.556
  7. Cooper DN (1994) The molecular genetics of familial venous thrombosis. Bailliere's Clin Haematol 7: 637-674 https://doi.org/10.1016/S0950-3536(05)80102-7
  8. Cripe LD, Moore KD, and Kane WH (1992) Structure of the gene for human coagulation factor V. Biochemistry 31: 3777-3785 https://doi.org/10.1021/bi00130a007
  9. Dahlback B, Carlsson M, and Svensson PJ (1993) Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 90: 1004-1008 https://doi.org/10.1073/pnas.90.3.1004
  10. Dilley A, Austin H, Cupertino M, Hooper C, Wenger N, and Evatt B (1995) Risk factors for deep vein thrombosis in the African-American population. Blood 86: 87a
  11. Emmerich J, Poirier O, Evans A, Marques-Vidal P, Arveiler D, Luc G, Aiach M, and Cambien F (1995) Myocardial infarction, Arg 506 to Gin factor V mutation, and activated protein C resistance. Lancet 345: 321 https://doi.org/10.1016/S0140-6736(95)90310-0
  12. Flint J, Harding RM, Clegg JB, and Boyce AJ (1993) Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. Hum Genet 91: 91-117
  13. Gardemann A, Arsic T, Katz N, Tillmanns H, Hehrlein FW, and Haberbosch W (1999) The Factor II G20210A and Factor V G1691A gene transitions and coronary heart disease. Thromb Haemost 81: 208-213 https://doi.org/10.1055/s-0037-1614444
  14. Gisslinger H, Rintelen C, Mannhalter C, Pabinger I, Geissler K, Knobl P, Eichinger S, and Lechner K (1995) Factor V Leiden mutation is not a major cause of thrombotic tendency in essential thrombocythemia (ET) polycythemia vera (PV). Blood 86: 795a
  15. Grandone E, Margaglione M, Colaizzo D, Cappucci G, Paladini D, Martinelli P, Montanaro S, Pavone G, and Minno GD (1997) Factor V Leiden, C>T MTHFR polymorphism and genetic susceptibility to preeclampsia. Thromb Haemost 77: 1052-1054
  16. Greengard JS, Sun X, Xu X, Fernandez JA, Griffin JH, and Evatt B (1994) Activated protein C resistance caused by Arg506Gln mutation in factor Va. Lancet 343: 1362-1363 https://doi.org/10.1016/S0140-6736(94)92497-X
  17. Helley D, Besmond C, Ducrocq R, da Silva F, Guillin MC, Bezeaud A, and Elion J (1996) Polymorphism in exon 10 of the human coagulation factor V gene in a population at risk for sickle cell disease. Hum Genet 100: 245-248 https://doi.org/10.1007/s004390050499
  18. Holm J, Zoller B, Berntorp E, Erhardt L, and Dahlback B (1996) Prevalence of factor V gene mutation amongst myocardial infarction patients and healthy controls is higher in Sweden than in other countries. J Inter Med 239: 221-226 https://doi.org/10.1046/j.1365-2796.1996.470808000.x
  19. Ishida F, Ito T, Ichikawa N, Shimodaira S, Takamiya O, Furihata K, Kiyosawa K, and Kitano K (1995) Arg 506 Gin factor V mutation is uncommon in eastern Asian populations. Blood 86: 917a
  20. Jenny RJ, Pittman DD, Toole JJ, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ, and Mann KG (1987) Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 84: 4846-4850 https://doi.org/10.1073/pnas.84.14.4846
  21. Ko Y-L, Hsu T-S, Wu S-M, Ko Y-S, Chang C-J, Wang S-M, Chen W-J, Cheng N-J, Kuo C-T, Chiang C-W, and Lee Y-S (1996) The G1691A mutation of the coagulation factor V gene (factor V Leiden) is rare in Chinese: an analysis of 618 individuals. Hum Genet 98: 176-177 https://doi.org/10.1007/s004390050184
  22. Koeleman BP, Reitsma PH, Allaart CF, and Bertina RM (1994) Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 84: 1031-1035
  23. Koster T, Rosendaal FR, de Ronde H, Brief E, Vandenbroucke JP, and Bertina RM (1993) Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet 342: 1503-1506 https://doi.org/10.1016/S0140-6736(05)80081-9
  24. Lahiri DK and Numberger Jl (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl Acids Res 19: 5444 https://doi.org/10.1093/nar/19.19.5444
  25. Liu XY, Nelson D, Grant C, Morthland V, Goodnight SH, and Press RD (1995) Molecular detection of a common mutation in coagulation factor V causing thrombosis via hereditary resistance to activated protein C. Diagn Mol Pathol 4: 191-197 https://doi.org/10.1097/00019606-199509000-00006
  26. Lunghi B, Lacoviello L, Gemmati D, Dilasio G, Casroldi E, Pinotti M, Castaman G, Redaelli, Mariani G, Marchetti G, and Bernard F (1996) Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. Thromb Haemost 75: 45-48
  27. Schroder W, Koessling M, Wulff K, Wehnert M, and Hermann FH (1996) World distribution of factor V Leiden mutation. Lancet 347: 58-59 https://doi.org/10.1016/S0140-6736(96)91590-1
  28. Maisonneuve L, Loirat C, Binard S, Hurtaud-Roux MF, Baundouin V, Brun P, and Schlegel N (1995) Factor V Leiden in 51 nephrotic children. Blood 86: 920a
  29. Marz W, Seydewitz H, Winkelmann B, Chen M, Nauck M, and Witt I (1995) Mutation in coagulation factor V associated with resistance to activated protein C in patients with coronary artery disease. Lancet 345: 526 https://doi.org/10.1016/S0140-6736(95)90626-6
  30. Nagy B, Toth T, Rigo J Jr, Karadi I, Romics L, and Papp Z (1998) Detection of factor V Leiden mutation in severe pre-eclamptic Hungarian women. Clin Genet 53: 478-481 https://doi.org/10.1111/j.1399-0004.1998.tb02599.x
  31. Nathwani AC and Tuddenham EGD (1992) Epidemiology of coagulation disorders. Clin Haematol 5: 383-439
  32. Pepe G, Rickards O, Vanegas OC, Brunelli T, Gori AM, Giusti B, Attanasio M, Prisco D, Gensini GF, and Abbate R (1997) Prevalence of factor V Leiden mutation in Non-European populations. Thromb Haemost 77: 329-331
  33. Prohaska W, Mannebach H, Schmidt M, Gleichmann U, and Kleesiek K (1995) Evidence against heterozygygous coagulation factor V 1691 G${\to}$A mutation with resistance to activated protein C being a risk factor for coronary artery disease and myocardial infarction. J Mol Med 73: 521-524
  34. Redondo M, Watzke HH, Stucki B, Sulzer I, Biasiutti FD, Binder BR, Furlan M, Lammle B, and Wuillemin WA (1999) Coagulation factors II, V, VII, and X, prothrombin gene 20210G${\to}$A transition, and factor V Leiden in coronary artery disease. Arterioscler Thromb Vasc Biol 19: 1020-1025 https://doi.org/10.1161/01.ATV.19.4.1020
  35. Rees DC, Cox M, and Clegg JB (1995) World distribution of factor V Leiden. Lancet 346: 1133-1134 https://doi.org/10.1016/S0140-6736(95)91803-5
  36. Rees DC, Cox M, and Clegg JB (1995) World distribution of factor V Leiden. Lancet 346: 1133-1134 https://doi.org/10.1016/S0140-6736(95)91803-5
  37. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, and Miletich JP (1995) Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 332: 912-917 https://doi.org/10.1056/NEJM199504063321403
  38. Ridker PM, Miletich JP, Hennekens CH, and Buring JE (1997) Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. J Am Med Asso 277: 1305-1307 https://doi.org/10.1001/jama.277.16.1305
  39. Rosendaal FR, Koster T, Vandenbroucke JP, and Reitsma PH (1995) High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 85: 1504-1508
  40. Rosendaal FR, Siscovick DS, Schwartz SM, Beverly RK, Psaty BM, Longstrech WT Jr, Raghunathan TE, Koepseil TD, and Reitsma PH (1997) Factor V Leiden (resistance to activated protein C) increase the risk of myocardial infarction in young women. Blood 89: 2817-2821
  41. Schroder W, Koessling M, Wulff K, Wehnert M, and Hermann FH (1996) World distribution of factor V Leiden mutation. Lancet 347: 58-59 https://doi.org/10.1016/S0140-6736(96)91590-1
  42. Thompson EA, Deeb AS, Walker D, and Motulsky AG (1998) The detection of linkage disequilibrium between closely linked marlers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet 42: 113-124
  43. Voorberg J, Roelse J, Koopman R, Buller H, Berends F, Cate JW, Mertens K, and van Mourik JA (1994) Association of idiopathic venous thromboembolism with single point mutation at $Arg^{506}$ of factor V. Lancet 343: 1535-1536 https://doi.org/10.1016/S0140-6736(94)92939-4
  44. Wang H, Ridell DC, Guinto ER, MacGillivray RTA, and Hamerton JL (1988) Localization of the gene encoding human factor V to chromosome 1q21-25. Genomics 2: 234-238 https://doi.org/10.1016/0888-7543(88)90021-3
  45. Zoller B and Dahlback B (1994) Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 343: 1536-1538 https://doi.org/10.1016/S0140-6736(94)92940-8