Ethnic differences in the prevalence of inherited thrombophilic polymorphisms in an asymptomatic Australian prenatal population

Human Biology

Volumn 78, Issue 4, 2006, Pages 403-412

  Said, Joanne M ^a,b   Brennecke, Shaun P ^a,b   Moses, Eric K ^a,c   Walker, Susan P ^b,d   Borg, Anthony J ^a,c   Williams, Jeff T ^c,e   Higgins, John R ^b,f  

^a ROYAL WOMEN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^d MERCY HOSPITAL FOR WOMEN   (Australia)

^e SOUTHWEST NATIONAL PRIMATE RESEARCH CENTER   (United States)

^f UNIVERSITY COLLEGE CORK   (Ireland)

Author keywords

Australia; Factor V Leiden; Methylenetetrahydrofolate reductase (MTHFR); Prenatal population; Prothrombin gene; Thrombomodulin; Thrombophilia

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN; THROMBOMODULIN;

ALLELE; ARTICLE; ASIA; AUSTRALIA; DNA POLYMORPHISM; DNA SEQUENCE; ETHNICITY; EUROPE; FACTOR V LEIDEN GENE; FAMILY HISTORY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HEREDITY; HETEROZYGOTE; HUMAN; MIDDLE EAST; MTHFR GENE; POPULATION GENETICS; PRENATAL PERIOD; PREVALENCE; PROSPECTIVE STUDY; PROTHROMBIN GENE; SEQUENCE ANALYSIS; STATISTICAL ANALYSIS; STATISTICAL SIGNIFICANCE; THROMBOMODULIN GENE; THROMBOPHILIA; VENOUS THROMBOEMBOLISM;

EID: 33846235071     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: 10.1353/hub.2006.0058     Document Type: Article

References (28)

1. Alfirevic, Z., D. Roberts, and V. Martlew. 2002. How strong is the association between maternal thrombophilia and adverse pregnancy outcome? A systematic review. Eur. J. Obstet. Gynecol. Reprod. Biol. 101(1):6-14.
2. Angchaisuksiri, P., S. Pingsuthiwong, K. Aryuchai et al. 2000. Prevalence of the G16191A mutation in the factor V gene (factor V Leiden) and the G20210A prothrombin gene mutation in the Thai population. Am. J. Hematol. 65(2):119-122.
3. Awidi, A., M. Shannak, A. Bseiso et al. 1999. High prevalence of factor V Leiden in healthy Jordanian Arabs. Thromb. Haemost. 81:582-584.
4. Bates, S., I. Greer, J. Hirsh et al. 2004. Use of antithrombotic agents during pregnancy: The Seventh ACCP Conference on Antithrombotic and Thrombolytic Therapy. Chest 126(3):627S-644S.
5. Chan, D. K., G. Hu, H. Tao et al. 2000. A comparison of polymorphism in the 3′-untranslated region of the prothrombin gene between Chinese and Caucasians in Australia. Br. J. Haematol. 111:1253-1255.
6. Conroy, J. M., G. Trivedi, T. Sovd et al. 2000. The allele frequency of mutations in four genes that confer enhanced susceptibility to venous thromboembolism in an unselected group of New York state newborns. Thromb. Res. 99:317-324.
7. Dahlback, B. 1997. Resistance to activated protein C due to factor V R506Q mutation as a cause of venous thrombosis. Rev. Invest. Clin. 49(suppl. 1):3-5.
8. Dittman, W. A., and P. W. Majeurs. 1990. Structure and function of thrombomodulin: A natural anticoagulant. Blood 75(2):329-336.
9. Esfahani, S. T., E. A. Cogger, and M. A. Caudill. 2003. Heterogeneity in the prevalence of methylenetetrahydrofolate reductase gene polymorphisms in women of different ethnic groups. J. Am. Diet. Assoc. 103(2):200-207.
10. Frosst, P., H. J. Blom, and R. Milos et al. 1995. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 10:111-113.
11. Gerhardt, A., R. E. Scharf, M. W. Beckmann et al. 2000. Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. New Engl. J. Med. 342(6):374-380.
12. Gibson, C. S., A. H. MacLennan, Z. Rudzki et al. 2005. The prevalence of inherited thrombophilias in a Caucasian Australian population. Pathology 37(2):160-163.
13. Gudnason, V., D. Stansbie, J. Scott et al. 1998. C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): Its frequency and impact on plasma homocysteine concentration in different European populations. Atherosclerosis 136:347-354.
14. Herrmann, F. H., M. Koesling, W. Schroder et al. 1997. Prevalence of factor V Leiden mutation in various populations. Genet. Epidemiol. 14:403-411.
15. Infante-Rivard, C., G.-E. Rivard, W. V. Yotov et al. 2002. Absence of association of thrombophilia polymorphisms with intrauterine growth restriction. New Engl. J. Med. 347(1):19-25.
16. Irani-Hakime, N., H. Tamim, R. Kreidy et al. 2000. The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese. Am. J. Hematol. 65:45-49.
17. Isotalo, P. A., G. A. Wells, and J. G. Donnelly. 2000. Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: An examination of C677T and A1298C mutations. Am. J. Hum. Genet. 67:986-990.
18. Lee, D. H., P. A. Henderson, and M. A. Blajchman. 1996. Prevalence of factor V Leiden in a Canadian blood donor population. Can. Med. Assoc. J. 155(3):296-298.
19. Livingston, J. C., J. R. Barton, V. Park et al. 2001. Maternal and fetal inherited thrombophilias are not related to the development of severe preeclampsia. Am. J. Obstet. Gynecol. 185(1):153-157.
20. Livingstone, W. J., C. Keenan, B. White et al. 2000. Prevalence of the factor V R506Q mutation in two Irish control populations: Use of a novel nested polymerase chain reaction approach. Br. J. Haematol. 111:559-561.
21. Poort, S. R., F. R. Rosendaal, P. H. Reitsma et al. 1996. 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 88(10):3698-3703.
22. Rees, D. C., M. Cox, and J. B. Clegg. 1995. World distribution of factor V Leiden. Lancet 346:1133-1134.
23. Rey, E., S. R. Kahn, M. David et al. 2003. Thrombophilic disorders and fetal loss: A meta-analysis. Lancet 361(9361):901-908.
24. Ridker, P. M., J. P. Miletich, C. H. Hennekens et al. 1997. Ethnic distribution of factor V Leiden in 4,047 men and women: Implications for venous thromboembolism screening. J. Am. Med. Assoc. 277(16):1305-1307.
25. Rosendaal, F. R., C. J. M. Doggen, A. Zivelin et al. 1998. Geographic distribution of the 20210 G to A prothrombin variant. Thromb. Haemost. 79:706-708.
26. Said, J., and G. Dekker. 2003. Pre-eclampsia and thrombophilia. Best Pract. Res. Clin. Obstet. Gynaecol. 17(3):441-458.
27. van der Put, N. M. J., F. Gabreels, E. M. B. Stevens et al. 1998. A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects? Am. J. Hum. Genet. 62:1044-1051.
28. Zivelin, A., J. H. Griffin, X. Xu et al. 1997. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 89(2):397-402.