Introduction. Premature rupture of membranes (PRM) is a late pregnancy complication commonly associated with preterm delivery (PD).Although several markers related to the renin-angiotensin system (RAS) have been evaluated in certain pregnancy complications, only the angiotensin-converting enzyme (ACE) I/D variant has been studied in PD-PRM.The aim of this survey was to investigate the association of the polymorphisms (angiotensin II type 1 [AT1] receptor T174M and M235T, renin G2805A,ACE I/D and AT1-receptor A1166C) of the genes of RAS in women with PD-PRM.
Design. Deoxyribonucleic acid samples from 89 Mexican Mestizo women with PD and PRM and 224—288 controls were studied. Polymorphisms were analysed by polymerase chain reaction-sequence specific primer assays. restricted fragment length polymorphism or sequence specific prim assays.
Results. For all loci , genotype distribution was in agreement with Hardy—Weinberg expectations in the control group. Significant intergroup difference (case vs. control) was seen for angiotensinogen (AGT) M235T polymorphism, with an increased allele M235 in affected cases (50% vs. 40% in controls).Analysis of two-locus haplotype agrees with an independent segregation of physically unlinked genes. Haplotype AGT 174T-235M was also increased (50 % vs. 40% in controls).
Conclusions. Physically unlinked genes involved in RAS segregate independently. The AGT 174—235 region is associated with PD-PRM in this population.
Challis JRG . Mechanism of Parturition and Preterm Labor . Obstet Gynecol Surv2000;55:650-60.
2.
Parry S., Strauss JFMechanisms of disease: premature rupture of the fetal membranes. N Eng J Med1998;338:663-70.
3.
Ananth CV, Misra DP, Demissie K., Smulian JCRates of preterm delivery among black women and white women in the United States over two decades: an age-period-cohort analysis. Am J Epidemiol2001;154:657-65.
4.
Kramer MS, Goulet L., Lydon J. et al. Socio-economic disparities in preterm birth: causal pathways and mechanisms. Paediatr Perinat Epidemiol2001;15:104-23.
5.
Romero R., Sirtori M., Oyarzum E. et al. Infection and labor: V. Prevalence, microbiology and clinical significance of intra-amniotic infection in women with preterm labor and intact membranes. Am J Obstet Gynecol1989;161:817-24.
6.
Ekwo EE, Gosselink CA, Moawad A.Unfavorable outcome in penultimate pregnancy and premature rupture of membranes in successive pregnancy. Obstet Gynecol1992 ;80:166-72.
7.
Sibai BM, Caritis SN, Hauth JC et al. Preterm delivery in women with pregestational diabetes mellitus or chronic hypertension relative to women with uncomplicated pregnancies. Am J Obstet Gynecol2000;183:1520-4.
8.
Buchbinder A. , Sibai BM, Caritis S. et al. Adverse perinatal outcomes are significantly higher in severe gestational hypertension than in mild preeclampsia. Am J Obstet Gynecol2002;186:66-71.
9.
Treloar SA, Macones GA, Mitchell LE, Martin NGGenetic influences on premature parturition in an Australian twin sample. Twin Res2000;3:80-2.
10.
Dizon-Townson DSPreterm labour and delivery: a genetic predisposition . Paediatr Perinat Epidemiol2001;15:57-62.
11.
Wang X., Zuckerman B., Kaufman G. et al. Molecular epidemiology of preterm delivery: methodology and challenges. Paediatr Perinat Epidemiol2001 ;15:63-77.
12.
Fortunato SJ , Menon R.Distinct molecular events suggest different pathways for preterm labor and premature rupture of membranes. Am J Obstet Gynecol2001;184:1399-406.
13.
Hao K., Wang X., Niu T. et al. A candidate gene association study on preterm delivery: application of high-throughput genotyping technology and advanced statistical methods . Hum Mol Genet2004;13:683-91.
14.
Kalish RB, Vardhana S., Gupta M., Perni SC, Chasen ST, Witkin SSPolymorphisms in the tumor necrosis factor-alpha gene at position -308 and the inducible 70 kd heat shock protein gene at position +1267 in multifetal pregnancies and preterm premature rupture of fetal membranes. Am J Obstet Gynecol2004;4:1368-74.
15.
Maymon E., Ghezzi F., Edwin SS et al. The tumor necrosis factor a and its soluble receptor profile in term and preterm parturition. Am J Obstet Gynecol1999;181:1142-8.
16.
Roberts AK, Monzon-Bordonaba F., Deerlin PGV et al. 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 Gynecol1999;180:1297-302.
17.
Fujimoto T. , Parry S., Urbanek M. et al. A single nucleotide polymorphism in the matrix metalloproteinase-1 (MMP-1) promoter influences amnion cell MMP-1 expression and risk for preterm premature rupture of the fetal membranes. J Biol Chem2002;277:6296-302.
18.
Valdez LL, Quintero A., Garcia E. et al. Thrombophilic polymorphisms in preterm delivery. Blood Cells Mol Dis2004;1:51-6.
19.
Doh K., Sziller I., Vardhana S., Kovacs E., Papp Z., Witkin SSBeta2-adrenergic receptor gene polymorphisms and pregnancy outcome . J Perinat Med2004;5:413-17.
20.
Fatini C., Gensini F., Battaglini B. et al. Angiotensin-converting enzyme DD genotype, angiotensin type 1 receptor CC genotype, and hyperhomocysteinemia increase first-trimester fetal-loss susceptibility. Blood Coagul Fibrinolysis2000;11:657-62.
21.
Buchholz T. , Lohse P., Rogenhofer N., Kosian E., Pihusch R., Thaler CJPolymorphisms in the ACE and PAI-1 genes are associated with recurrent spontaneous miscarriages . Hum Reprod2003;18:2473-7.
22.
Bouba I., Makrydimas G., Kalaitzidis R., Lolis DE, Siamopoulos KC, Georgiou I.Interaction between the polymorphisms of the renin-angiotensin system in preeclampsia . Eur J Obstet Gynecol Reprod Biol2003;1:8-11.
23.
Mello G., Parretti E., Gensini F. et al. Maternal-fetal flow, negative events, and preeclampsia: role of ACE I/D polymorphism. Hypertension2003 ;41:932-7.
24.
Kobashi G., Hata A., Ohta K. et al. A1166C variant of angiotensin II type 1 receptor gene is associated with severe hypertension in pregnancy independently of T235 variant of angiotensinogen gene. J Hum Genet2004;4:182-6.
25.
Martius JA, Steck T., Oehler MK, Wulf KHRisk 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 Biol1998;80:183-9.
26.
van-Dijk MA , Kroon I., Kamper AM, Boomsma F., Danser AH, Chang PCThe angiotensin-converting enzyme gene polymorphism and responses to angiotensins and bradykinin in the human forearm. J Cardiovasc Pharmacol2000 ;35:484-90.
27.
Agachan B., Isbir T., Yilmaz H., Akoglu E.Angiotensin converting enzyme I/D, angiotensinogen T174M-M235T and angiotensin II type 1 receptor A1166C gene polymorphisms in Turkish hypertensive patients . Exp Mol Med2003;6:545-9. 28. Siani A., Russo P., Cappuccio FP et al. Combination of renin-angiotensin system polymorphisms is associated with altered renal sodium handling and hypertension. Hypertension2004;3:598-602.
28.
Mondry A., Loh M., Liu P., Zhu AL, Nagel M.Polymorphisms of the insertion/deletion ACE and M235T AGT genes and hypertension: surprising new findings and meta-analysis of data. BMC Nephrol2005;1:1.
29.
Levesque S. , Moutquin JM, Lindsay C., Roy MC, Rousseau F.Implication of an AGT haplotype in a multigene association study with pregnancy hypertension . Hypertension2004;43:71-8. 31. Dilley A., Austin H., El-Jamil M. et al. Genetic factors associated with thrombosis in pregnancy in a United States population . Am J Obstet Gynecol2000;183:1271-7.
30.
Choi H., Kang JY, Yoon HS et al. Association of Angiotensin-converting enzyme and angiotensinogen gene polymorphisms with preeclampsia. J Korean Med Sci2004;2:253-7.
31.
Wallukat G. , Homuth V., Fischer T. et al. Patients with preeclampsia develop agonistic autoantibodies against the angiotensin AT1 receptor. J Clin Invest1999;7:945-52.
32.
Corvol P., Jeunemaitre X.Molecular genetics of human hypertension: role of angiotensinogen . Endocr Rev1997;5:662-77.
33.
Bloem LJ, Manatunga AK, Tewksbury DA, Pratt JHThe serum angiotensinogen concentration and variants of the angiotensinogen gene in white and black children. J Clin Invest1995;95:948-53.
34.
Jeunemaitre X., Soubrier F., Kotelevtsev YV et al. Molecular basis of human hypertension: role of angiotensinogen. Cell1992;71:169-80.
35.
Porto PI, Garcia SI, Dieuzeide G., Gonzalez C., Pirola CJRenin-angiotensin-aldosterone system loci and bilocus interactions in young-onset essential hypertension. Clin Exp Hypertens2003;2:117-30.
36.
Katsuya T., Koike G., Yee TW et al. Association of angiotensinogen gene T235 variant with increased risk of coronary heart disease. Lancet1995 ;345:1600-03.
37.
Procopciuc L., Jebeleanu G., Surcel I., Puscas M.Angiotensinogen gene M235T variant and pre-eclampsia in Romanian pregnant women. J Cell Mol Med2002;6:383-8.
38.
Naftilan AJ , Williams R., Burt D. et al. A lack of genetic linkage of renin gene restriction fragment length polymorphisms with human hypertension. Hypertension1989;14:614-18.
39.
Barley J., Carter ND, Cruickshank JK et al. Renin and atrial natriuretic peptide restriction fragment length polymorphisms: association with ethnicity and blood pressure. J Hypertens1991;9:993-6.
40.
Chiang FT, Hsu KL, Tseng CD, Lo HM, Chern TH, Tseng YZAssociation of the renin gene polymorphism with essential hypertension in a Chinese population. Clin Genet1997;51:370-4.
41.
Deinum J., Tarnow L., van-Gool JM et al. Plasma renin and prorenin and renin gene variation in patients with insulin-dependent diabetes mellitus and nephropathy. Nephrol Dial Transplant1999;14:1904-11.
42.
Hasimu B., Nakayama T., Mizutani Y. et al. Haplotype analysis of the human renin gene and essential hypertension . Hypertension2003;41:308-12.
43.
Rigat B., Hubert C., Corvol P., Soubrier F.PCR detection of the insertion/deletion polymorphism of the human angiotensin converting enzyme gene (DCP1) (dipeptidyl carboxypeptidase 1) . Nucleic Acids Res1992;6:1433.
44.
Agerholm-Larsen B., Nordestgaard BG, Tybjaerg-Hansen A.ACE gene polymorphism in cardiovascular disease: meta-analyses of small and large studies in whites . Arterioscler Thromb Vasc Biol2000;2:484-92.
45.
Bleumink GS , Schut AF, Sturkenboom MC et al. Genetic polymorphisms and heart failure . Genet Med2004;6:465-74. 48. Cambien F., Costerousse O., Tiret L. et al. Plasma level and gene polymorphism of angiotensin-converting enzyme in relation to myocardial infarction. Circulation1994;2:669-76.
46.
Philipp CS, Dilley A., Saidi P. et al. Deletion polymorphism in the angiotensin-converting enzyme gene as a thrombophilic risk factor after hip arthroplasty. Thromb Haemost1998;6:869-73.
47.
Gurdol F., Isbilen E., Yilmaz H., Isbir T., Dirican A.The association between preeclampsia and angiotensin-converting enzyme insertion/deletion polymorphism. Clin Chim Acta2004;1-2:127-31.
48.
Miller JA, Scholey JWThe impact of renin-angiotensin system polymorphisms on physiological and pathophysiological processes in humans. Curr Opin Nephrol Hypertens2004;13:101-06.
49.
Bonnardeaux A. , Davies E., Jeunemaitre X. et al. Angiotensin II type 1 receptor gene polymorphisms in human essential hypertension. Hypertension1994;24:63-9.
50.
Nalogowska-Glosnicka K., Lacka BI, Zychma MJ et al. Angiotensin II type 1 receptor gene A1166C polymorphism is associated with the increased risk of pregnancy-induced hypertension. Med Sci Monit2000;3:523-9.
51.
Ye S., Dhillon S., Seear R. et al. Epistatic interaction between variations in the angiotensin I converting enzyme and angiotensin II type 1 receptor genes in relation to extent of coronary atherosclerosis. Heart2003;89:1195-9.
52.
Miller SA, Dykes DD, Polesky HFA simple salting out procedure for extracting DNA from human nucleated cells . Nucleic Acids Res1988;16:1215.
53.
Gutierrez C. , Vendrell J., Pastor R. et al. 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. Metabolism1997;46:976-80.
54.
Miller JA, Thai K., Scholey JWAngiotensin II type 1 receptor gene polymorphism and the response to hyperglycemia in early type 1 diabetes. Diabetes2000;49:1585-9. 58. Fleiss JLStatistical Methods for Rates and Proportions . 2nd ed. New York; 1981.
55.
Li CCFirst course in population genetics. 3rd ed A . Pacific Grove, CA.: Boxwood Press ; 1976. 3rd ed. Boston: Wiley-Interscience; 1989 .
Schneider S., Roessli D., Excoffier L.Arlequin. 2.000 ed: Genetics and Biometry Laboratory; University of Geneva, Switzerland; 2000.p. A software for population genetics data analysis.
58.
Lewontin RCThe interaction of selection and linkage. General considerations; heterotic models. Genetics1964;49:49-67. 63. Sethi AA, Nordestgaard BG, Gronholdt ML, Steffensen R., Jensen G., Tybjaerg-Hansen A.Angiotensinogen single nucleotide polymorphisms, elevated blood pressure, and risk of cardiovascular disease. Hypertension2003;41:1202-11. 64. Wilson ML, Goodwin TM, Pan VL, Ingles SAMolecular epidemiology of preeclampsia. Obstet Gynecol Surv2003;58:39-66.
59.
Williams SM , Addy JH, Phillips -3rd JA et al. Combinations of variations in multiple genes are associated with hypertension. Hypertension2000;36:2-6.
60.
Nakajima T. , Wooding S., Sakagami T. et al. Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world. Am J Hum Genet2004 ;74:898-916.
61.
Rupert JL, Kidd KK, Norman LE, Monsalve MV, Hochachka PW, Devine DVGenetic polymorphisms in the Renin-Angiotensin system in high-altitude and low-altitude Native American populations. Ann Hum Genet2003;67:17-25.
62.
Cerda-Flores RM, Villalobos-Torres MC, Barrera-Saldana HA et al. Genetic admixture in three Mexican Mestizo populations based on D1S80 and HLA-DQA1 loci. Am J Hum Biol2002;14:257-63.
