Genetic variation in TGFBI gene and risk of idiopathic recurrent pregnancy loss

Molecular Human Reproduction

Volumn 19, Issue 7, 2013, Pages 438-443

  Magdoud, K ^a   Herbepin, V Granados ^b   Messaoudi, S ^a   Hizem, S ^a   Bouafia, N ^c   Almawi, W Y ^d   Mahjoub, T ^a   Touraine, R ^b  

^a UNIVERSITY OF MONASTIR   (Tunisia)

^b HÔPITAL NORD   (France)

^c FARHAT HACHED HOSPITAL   (Tunisia)

^d ARABIAN GULF UNIVERSITY   (Bahrain)

Author keywords

Haplotype; Polymorphisms; Spontaneous miscarriage; TGFB1

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA1; TGFB1 PROTEIN, HUMAN;

ADULT; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RECURRENT ABORTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TUNISIA; GENETIC PREDISPOSITION; GENETICS; PREGNANCY; SPONTANEOUS ABORTION; POLYMORPHISMS; SPONTANEOUS MISCARRIAGE; TGFB1;

ABORTION, SPONTANEOUS; ADULT; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; TRANSFORMING GROWTH FACTOR BETA1;

HAPLOTYPE; POLYMORPHISMS; SPONTANEOUS MISCARRIAGE; TGFB1;

EID: 84880169387     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gat012     Document Type: Article

References (42)

1. Amani D, Zolghadri J, Dehaghani AS, Pezeshki AM, Ghaderi A. The promoter region (2800,509) polymorphisms of transforming growth factor-beta1 (TGF-beta1) gene and recurrent spontaneous abortion. J Reprod Immunol 2004;62:159-166
2. Amani D, Dehaghani AS, Zolghadri J, Ravangard F, Niikawa N, Yoshiura K, Ghaderi A. Lack of association between the TGF-beta1 gene polymorphisms and recurrent spontaneous abortion. J Reprod Immunol 2005;68:91-103
3. Awad MR, El-Gamel A, Hasleton P, Turner DM, Sinnott PJ, Hutchinson IV. Genotypic variation in the transforming growth factor-beta1 gene: association with transforming growth factor-beta1 production, fibrotic lung disease, and graft fibrosis after lung transplantation. Transplantation 1998;66:1014-1020
4. Ball E, Robson SC, Ayis S, Lyall F, Bulmer JN. Expression of TGF beta in the placental bed is not altered in sporadic miscarriage. Placenta 2007; 28:965-971
5. Bischof P, Meisser A, Campana A. Mechanisms of endometrial control of trophoblast invasion. J Reprod Fertil Suppl 2000;55:65-71
6. Cambien F, Ricard S, Troesch A, Mallet C, Générénaz L, Evans A, Arveiler D, Luc G, Ruidavets JB, Poirier O. Polymorphisms of the transforming growth factor-beta 1 gene in relation to myocardial infarction and blood pressure. The Etude Cas-Témoin de l'Infarctus du Myocarde (ECTIM) Study. Hypertension 1996;28:881-887
7. Chen Y, Dawes PT, Packham JC, Mattey DL. Interaction between smoking and functional polymorphism in the TGFB1 gene is associated with ischaemic heart disease and myocardial infarction in patients with rheumatoid arthritis: a cross-sectional study. Arthritis Res Ther 2012; 14:R81
8. Cheng LH, Cao YX. Study on the correlation of transforming growth factor beta1 and its receptors with spontaneous abortion after in vitro fertilization and embryo transfer. Zhonghua Fu Chan Ke Za Zhi 2005;40:299-301
9. Clark DA, Coker R. Transforming growth factor-beta (TGF-beta). Int J Biochem Cell Biol 1998;30:293-298
10. Costeas PA, Koumouli A, Giantsiou-Kyriakou A, Papaloizou A, Koumas L. Th2/Th3 cytokine genotypes are associated with pregnancy loss. Hum Immunol 2004;65:135-141
11. Daher S, de Arruda Geraldes Denardi K, Blotta MH, Mamoni RL, Reck AP, Camano L, Mattar R. Cytokines in recurrent pregnancy loss. J Reprod Immunol 2004;62:151-157
12. Daher S, Mattar R, Gueuvoghlanian-Silva BY, Torloni MR. Genetic polymorphisms and recurrent spontaneous abortions: an overview of current knowledge. Am J Reprod Immunol 2012;67:341-347
13. Dunning AM, Ellis PD, McBride S, Kirschenlohr HL, Healey CS, Kemp PR, Luben RN, Chang-Claude J, Mannermaa A, Kataja V et al. A transforming growth factor beta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer. Cancer Res 2003;63:2610-2615
14. Fontana A, Constam DB, Frei K, Malipiero U, Pfister HW. Modulation of the immune response by transforming growth factor beta. Int Arch Allergy Immunol 1992;99:1-7
15. Gewaltig J, Mangasser-Stephan K, Gartung C, Biesterfeld S, Gressner AM. Association of polymorphisms of the transforming growth factor-beta1 gene with the rate of HCV-induced liver fibrosis. Clin Chim Acta 2002; 316:83-94
16. Giannubilo SR, Landi B, Pozzi V, Sartini D, Cecati M, Stortoni P, Corradetti A, Saccucci F, Tranquilli AL, Emanuelli M. The involvement of inflammatory cytokines in the pathogenesis of recurrent miscarriage. Cytokine 2012;58:50-56
17. Goodwin VJ, Sato TA, Mitchell MD, Keelan JA. Antiinflammatory effects of interleukin-4, interleukin-10 and transforming growth factor-b on human placental cells in vitro. Am J Reprod Immunol 1998;40:319-325
18. Graham CH, Connelly I, MacDougall JR, Kerbel RS, Stetler-Stevenson WG, Lala PK. Resistance of malignant trophoblast cells to both the anti-proliferative and anti-invasive effects of transforming growth factor-beta. Exp Cell Res 1994;214:93-99
19. Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, Carter ND, Spector TD. Genetic control of the circulating concentration of transforming growth factor type beta1. Hum Mol Genet 1999;8:93-97
20. Healy J, Dionne J, Bélanger H, Larivière M, Beaulieu P, Labuda D, Sinnett D. Functional impact of sequence variation in the promoter region of TGFB1. Int J Cancer 2009;125:1483-1489
21. Hossein H, Mahroo M, Abbas A, Firouzeh A, Nadia H. Cytokine production by peripheral blood mononuclear cells in recurrent miscarriage. Cytokine 2004;28:83-86
22. Ingman WV, Robertson SA. The essential roles of TGFB1 in reproduction. Cytokine Growth Factor Rev 2009;20:233-239
23. Jiménez-Sousa MA, Fernández-Rodríguez A, Heredia M, Tamayo E, Guzmán-Fulgencio M, Lajo C, LÓpez E, GÓmez-Herreras JI, Bustamante J, Bermejo-Martín JF et al. Genetic polymorphisms located in TGFB1, AGTR1, and VEGFA genes are associated to chronic renal allograft dysfunction. Cytokine 2012;58:321-326
24. Lash GE, Otun HA, Innes BA, Percival K, Searle RF, Robson SC, Bulmer JN. Regulation of extravillous trophoblast invasion by uterine natural killer cells is dependent on gestational age. Hum Reprod 2010; 25:1137-1145
25. Lawrence DA. Transforming growth factor-beta: a general review. Eur Cytokine Netw 1996;7:363-374
26. Lee SK, Kim JY, Lee M, Gilman-Sachs A, Kwak-Kim J. Th17 and regulatory T cells in women with recurrent pregnancy loss. Am J Reprod Immunol 2012;67:311-318
27. Li MO, Wan YY, Sanjabi S, Robertson AK, Flavell RA. Transforming growth factor-beta regulation of immune responses. Annu Rev Immunol 2006;24:99-146
28. Liu F, Guo J, Tian T, Wang H, Dong F, Huang H, Dong M. Placental trophoblasts shifted Th1/Th2 balance toward Th2 and inhibited Th17 immunity at fetomaternal interface. APMIS 2011;119:597-604
29. McLennan IS, Koishi K. Fetal and maternal transforming growth factor-beta 1 may combine to maintain pregnancy in mice. Biol Reprod 2004; 70:1614-1618
30. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215
31. Morris DR, Moxon JV, Biros E, Krishna SM, Golledge J. Meta-analysis of the association between transforming growth factor-beta polymorphisms and complications of coronary heart disease. PLoS One 2012;7:e37878
32. Ogasawara MS, Aoki K, Aoyama T, Katano K, Iinuma Y, Ozaki Y, Suzumori K. Elevation of transforming growth factor-beta1 is associated with recurrent miscarriage. J Clin Immunol 2000;20:453-457
33. Power LL, Popplewell EJ, Holloway JA, Diaper ND, Warner JO, Jones CA. Immunoregulatory molecules during pregnancy and at birth. Reprod Immunol 2002;56:19-28
34. Prigoshin N, Tambutti M, Larriba J, Gogorza S, Testa R. Cytokine gene polymorphisms in recurrent pregnancy loss of unknown cause. Am J Reprod Immunol 2004;52:36-41
35. Sporn MB, Roberts AB. Peptide growth factors are multifunctional. Nature 1988;332:217-219
36. Taylor AW. Review of the activation of TGF-b in immunity. J Leukoc Biol 2009;85:29-33
37. Tse WK, Whitley GS, Cartwright JE. Transforming growth factor-beta1 regulates hepatocyte growth induced trophoblast motility and invasion. Placenta 2002;23:699-705
38. Veenstra van Nieuwenhoven AL, Heineman MJ, Faas MM. The immunology of successful pregnancy. Hum Reprod Update 2003; 9:347-357
39. Von Linsingen R, Bompeixe EP, Bicalho Mda G. A case-control study in IL6 and TGFB1 gene polymorphisms and recurrent spontaneous abortion in southern Brazilian patients. Am J Reprod Immunol 2005; 53:94-99
40. Wegmann TG, Lin H, Guilbert L, Mosmann TR. Bidirectional cytokine interactions in the maternal-fetal relationship: is successful pregnancy a TH2 phenomenon? Immunol Today 1993;14:353-356
41. 869→C polymorphism, of the transforming growth factor-b1 gene with bone mineral density and genetic susceptibility to osteoporosis in Japanese women. J Mol Med 2001;79:149-156
42. Yokota M, Ichihara S, Lin TL, Nakashima N, Yamada Y. Association of a T29→C polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to myocardial infarction in Japanese. Circulation 2000;101:2783-2787