Thrombophilic polymorphisms in preterm delivery

Blood Cells, Molecules, and Diseases

Volumn 33, Issue 1, 2004, Pages 51-56

  Valdez, Laura L ^a,b   Quintero, Antonio ^a,b   Garcia, Ernesto ^a   Olivares, Norma ^c   Celis, Alfredo ^b   Rivas Jr , Fernando ^d   Rivas, Fernando ^a  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b UNIVERSITY OF GUADALAJARA   (Mexico)

^c HOSPITAL GENERAL DE OCCIDENTE   (Mexico)

^d UNIVERSIDAD DE COLIMA   (Mexico)

Author keywords

Polymorphism; Preterm delivery; Thrombophilia

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5; DIPEPTIDYL CARBOXYPEPTIDASE; PROTHROMBIN; TUMOR NECROSIS FACTOR;

ADOLESCENT; ADULT; ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MEXICO; PREMATURE LABOR; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOPHILIA;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; FACTOR V; FEMALE; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MEXICO; PEPTIDYL-DIPEPTIDASE A; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PREMATURE BIRTH; PROTHROMBIN; SEQUENCE DELETION; THROMBOPHILIA; TUMOR NECROSIS FACTOR-ALPHA;

INSERTION SEQUENCES;

EID: 3042662532     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2004.04.011     Document Type: Article

References (53)

1. Challis J.R.G. Mechanism of parturition and preterm labor. Obstet. Gynecol. Surv. 55:2000;650-660
2. Ananth C.V., Misra D.P., Demissie K., Smulian J.C. Rates of preterm delivery among black women and white women in the United States over two decades: an age-period-cohort analysis. Am. J. Epidemiol. 154:2001;657-665
3. Kramer M.S., Goulet L., Lydon J., Seguin L., McNamara H., Dassa C., Platt R.W., Chen M.F., Gauthier H., Genest J., Kahn S., Libman M., Rozen R., Masse A., Miner L., Asselin G., Benjamin A., Klein J., Koren G. Socio-economic disparities in preterm birth: causal pathways and mechanisms. Paediatr. Perinat. Epidemiol. 15(Suppl. 2):2001;104-123
4. Romero R., Sirtori M., Oyarzum E., Avila C., Mazor M., Callaban R., Sabo V., Athanassiadis A.P., Hobbins J.C. Infection and labor: V. Prevalence, microbiology and clinical significance of intra-amniotic infection in women with preterm labor and intact membranes. Am. J. Obstet. Gynecol. 161:1989;817-824
5. Ekwo E.E., Gosselink C.A., Moawad A. Unfavorable outcome in penultimate pregnancy and premature rupture of membranes in successive pregnancy. Obstet. Gynecol. 80:1992;166-172
6. Sibai B.M., Caritis S.N., Hauth J.C., MacPherson C., VanDorsten J.P., Klebanoff M., Landon M., Paul R.H., Meis P.J., Miodovnik M., Dombrowski M.P., Thurnau G.R., Moawad A.H., Roberts J. Preterm delivery in women with pregestational diabetes mellitus or chronic hypertension relative to women with uncomplicated pregnancies. Am. J. Obstet. Gynecol. 183:2000;1520-1524
7. Buchbinder A., Sibai B.M., Caritis S., Macpherson C., Hauth J., Lindheimer M.D., Klebanoff M., Vandorsten P., Landon M., Paul R., Miodovnik M., Meis P., Thurnau G. Adverse perinatal outcomes are significantly higher in severe gestational hypertension than in mild preeclampsia. Am. J. Obstet. Gynecol. 186:2002;66-71
8. Wenstrom K.D., Andrews W.W., Hauth J.C., Goldenberg R.L., DuBard M.B., Cliver S.P. Elevated second-trimester amniotic fluid interleukin-6 levels predict preterm delivery. Am. J. Obstet. Gynecol. 178:1998;546-550
9. Kupferminc M.J., Eldor A., Steinman N., Many A., Bar-Am A., Jaffa A., Fait G., Lessing J.B. Increased frequency of genetic thrombophilia in women with complications of pregnancy. N. Engl. J. Med. 340:1999;9-13
10. Hoffman J.D., Ward K. Genetic factors in preterm delivery. Obstet. Gynecol. Surv. 54:1999;203-210
11. Treloar S.A., Macones G.A., Mitchell L.E., Martín N.G. Genetic influences on premature parturition in an Australian twin sample. Twin Res. 3:2000;80-82
12. Roberts A.K., Monzon-Bordonaba F., Van Deerlin P.G., Holder J., Macones G.A., Morgan M.A., Strauss J.F. III, Parry S. Association of polymorphism within the promoter of the tumor necrosis factor alpha gene with increased risk of preterm premature rupture of the fetal membranes. Am. J. Obstet. Gynecol. 180:1999;1297-1302
13. Fortunato S.J., Menon R. Distinct molecular events suggest different pathways for preterm labor and premature rupture of membranes. Am. J. Obstet. Gynecol. 184:2001;1399-1405
14. Hao K., Wang X., Niu T., Xu X., Li A., Chang W., Wang L., Li G., Laird N., Xu X. A candidate gene association study on preterm delivery: application of high-throughput genotyping technology and advanced statistical methods. Hum. Mol. Genet. 13:2004;683-691
15. Le J., Vilcek J. Biology of disease: tumor necrosis factor and interleukin 1: cytokines with multiple overlapping biological activities. Lab. Invest. 56:1987;234-248
16. Romero R., Manogue K.R., Mitchell M.D., Wu Y.K., Oyarzun E., Hobbins J.C., Cerami A. Infection and labor: IV. Cachectin-tumor necrosis factor in the amniotic fluid of women with intraamniotic infection and preterm labor. Am. J. Obstet. Gynecol. 161:1989;336-341
17. So T., Ito A., Sato T. Tumor necrosis factor-α stimulates the biosynthesis of matrix metalloproteinases and plasminogen activator in cultured human chorionic cells. Biol. Reprod. 46:1992;772-778
18. Lavery J.P., Miller C.E. Deformation and creep in the human chorioamniotic sac. Am. J. Obstet. Gynecol. 134:1979;366-375
19. Parry S., Strauss J.F. Mechanisms of disease: premature rupture of the fetal membranes. N. Engl. J. Med. 338:1998;663-670
20. Gucer F., Balkanli-Kaplan P., Yuksel M., Yuce M.A., Ture M., Yardim T. Maternal serum tumor necrosis factor-alpha in patients with preterm labor. J. Reprod. Med. 46:2001;232-236
21. Wilson A.G., Symons J.A., McDowell T.L., McDevitt H.O., Duff G.W. Effects of a polymorphism in the human tumor necrosis factor α promoter on transcriptional activation. Proc. Natl. Acad. Sci. U. S. A. 94:1997;3195-3199
22. Pociot F., Briant L., Jongeneel C.V., Molvig J., Worsaae H., Abbal M., Thomsen M., Nerup J., Cambon-Thomsen A. Association of tumor necrosis factor (TNF) and class II major histocompatibility complex alleles with the secretion of TNF-alpha and TNF-beta by human mononuclear cells: a possible link to insulin-dependent diabetes mellitus. Eur. J. Immunol. 23:1993;224-231
23. Wilson A.G., di Giovine F.S., Blakemore A.I., Duff G.W. Single base polymorphism in the human tumor necrosis factor alpha (TNF alpha) gene detectable by NcoI restriction of PCR product. Hum. Mol. Genet. 1:1992;353
24. Bertina R.M., Koeleman B.P.C., Koster T., Rosendaal F.R., Dirven R.J., de Ronde H., van der Velden P.A., Reitsma P.H. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 369:1994;64-67
25. Foka Z.J., Lambropoulos A.F., Saravelos H., Karas G.B., Karavida A., Agorastos T., Zournatzi V., Makris P.E., Bontis J., Kotsis A. Factor V Leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages. Hum. Reprod. 15:2000;458-462
26. Erhardt E., Stankovics J., Molnar D., Adamovich K., Melegh B. High prevalence of factor V Leiden mutation in mothers of premature neonates. Biol. Neonate. 78:2000;145-146
27. Franco R.F., Trip M.D., Cate H.T., van den Ende A., Prins M.H., Kastelein J.J., Reitsma P.H. The 20210 G-A mutation in the 3′-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease. Br. J. Haematol. 104:1999;50-54
28. Souza S.S., Ferriani R.A., Pontes A.G., Zago M.A., Franco R.F. Factor V Leiden and factor II G20210A mutations in patients with recurrent abortion. Hum. Reprod. 14:1999;2448-2450
29. Fenton W., Rosenblatt D. Inherited disorders of folate and cobalamin transport and metabolism. Scriver C.R., et al. The Metabolic Bases of Inherited Disease. 8th ed. 2001;3897-3909 McGraw-Hill, USA
30. Goyette P., Frosst P., Rosenblat D., Rozen R. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am. J. Hum. Genet. 56:1995;1052-1059
31. Scholl T., Johnson W.G. Folic acid: influence on the outcome of pregnancy. Am. J. Clin. Nutr. 71:2000;1295S-1303S
32. Alfirevic Z., Roberts D., Martlew V. How strong is the association between maternal thrombophilia and adverse pregnancy outcome? A systematic review. Eur. J. Obstet. Gynecol. Reprod. Biol. 10:2002;6-14
33. Lauszus F.F., Gron P.L., Klebe J.G. Association of polymorphism of methylenetetrahydrofolate reductase with urinary albumin excretion rate in type 1 diabetes mellitus but not with pre-eclampsia, retinopathy, and preterm delivery. Acta Obstet. Gynecol. Scand. 80:2001;803-806
34. Johnston C.I., Volhard F. Renin-angiotensin system: a dual tissue and hormonal system for cardiovascular control. J. Hypertens. (Suppl. 10):1992;S13-S26
35. Rigat B., Hubert C., Alhenc-Gelas F., Corvol P., Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J. Clin. Invest. 86:1990;1343-1346
36. Poisner A.M. The human placental renin-angiotensin system. Front. Neuroendocrinol. 19:1998;232-252
37. Dilley A., Austin H., El-Jamil M., Hooper W.C., Barnhart E., Evatt B.L., Sullivan P.S., Ellingsen D., Patterson-Barnett A., Eller D., Randall H., Philipp C. Genetic factors associated with thrombosis in pregnancy in a United States population. Am. J. Obstet. Gynecol. 183:2000;1271-1277
38. Fatini C., Gensini F., Battaglini B., Prisco D., Cellai A.P., Fedi S., Marcucci R., Brunelli T., Mello G., Parretti E., Pepe G., Abbate R. Angiotensin-converting enzyme DD genotype, angiotensin type 1 receptor CC genotype, and hyperhomocysteinemia increase first-trimester fetal-loss susceptibility. Blood Coagulation Fibrinolysis. 11:2000;657-662
39. Leung P.S., Tsai S.J., Wallukat G., Leung T.N., Lau T.K. The upregulation of angiotensin II receptor AT(1) in human pre-eclamptic placenta. Mol. Cell. Endocrinol. 184:2001;95-102
40. Martius J.A., Steck T., Oehler M.K., Wulf K.H. Risk factors associated with preterm (<37 + 0 weeks) and early preterm birth (<32 + 0 weeks): univariate and multivariate analysis of 106 345 singleton births from the 1994 state-wide perinatal survey of Bavaria. Eur. J. Obstet. Gynecol. Reprod. Biol. 80:1998;183-189
41. Dávalos I.P., Olivares N., Castillo M.T., Cantu J.M., Ibarra B., Sandoval L., Moran M.C., Gallegos M.P., Chakraborty R., Rivas F. The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations. Ann. Genet. 43:2000;89-92
42. Miller S.A., Dykes D.D., Polesky H.F. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988;1215
43. Dizon-Townson D.S., Major H., Varner M., Ward K. A promoter mutation that increases transcription of the tumor necrosis factor-α gene is not associated with preterm delivery. Am. J. Obstet. Gynecol. 177:1997;810-813
44. Rosendaal F.R., Doggen C.J.M., Zivelin A., Arruda V.R., Aiach M., Siscovick D.S., Hillarp A., Watzke H.H., Bernardi F., Cumming A.M. Geographic distribution of the 20210 G to A prothrombin variant. Thromb. Haemostasis. 79:1998;706-708
45. Gutierrez C., Vendrell J., Pastor R., Llor C., Aguilar C., Broch M., Richart C. Angiotensin I-converting enzyme and angiotensinogen gene polymorphisms in non-insulin-dependent diabetes mellitus. Lack of relationship with diabetic nephropathy and retinopathy in a Caucasian Mediterranean population. Metabolism. 46:1997;976-980
46. Fleiss J.L. Statistical Methods for Rates and Proportions. 2da ed. 1981;44-46 Wiley, New York
47. Li C.C. First course. Population Genetics. 1976;The Boxwood Press, Pacific Grove, CA
48. D.W. Hosmer, S. Lemeshow, Applied Logistic Regression, Wiley-Interscience, Wiley, Boston, 1989.
49. Mello G., Parretti E., Gensini F., Sticchi E., Mecacci F., Scarselli G., Genuardi M., Abbate R., Fatini C. Maternal-fetal flow, negative events, and preeclampsia: role of ACE I/D polymorphism. Hypertension. 41:2003;932-937
50. Buchholz T., Lohse P., Rogenhofer N., Kosian E., Pihusch R., Thaler C.J. Polymorphisms in the ACE and PAI-1 genes are associated with recurrent spontaneous miscarriages. Hum. Reprod. 18:2003;2473-2477
51. Vadillo-Ortega F., Hernandez A., Gonzalez-Avila G., Bermejo L., Iwata K., Strauss J.F. III Increased matrix metalloproteinase activity and reduced tissue inhibitor of metalloproteinases-1 levels in amniotic fluids from pregnancies complicated by premature rupture of membranes. Am. J. Obstet. Gynecol. 174:1996;1371-1376
52. Rajabi M.R., Dean D.D., Beydoun S.N., Woessner J.F. Jr. Elevated tissue levels of collagenase during dilation of uterine cervix in human parturition. Am. J. Obstet. Gynecol. 159:1988;971-976
53. Y. Sakata, K. Yamamoto, T. Mano, N. Nishikawa, J. Yoshida, M. Hori, T. Miwa, T. Masuyama, Activation of matrix metalloproteinases precedes left ventricular remodeling in hypertensive heart failure rats. Its inhibition as a primary effect of angiotensin-converting enzyme inhibitor. Circulation. [Published online before print March 29, 2004].