The association of trefoil factor 3 gene polymorphisms and haplotypes with unexplained female infertility: Molecular insights into TFF3 regulation in receptive phase endometrium

References

• Achache, H. & Revel, A. (2006). Endometrial receptivity markers, the journey to successful embryo implantation. Human Reproduction Update, 12, 731–746.
   PubMed Web of Science ®Google Scholar
• Adamson, G.D. & Baker, V.L. (2003). Subfertility: causes, treatment and outcome. Best Practice and Research. Clinical Obstetrics and Gynaecology, 17, 169–185.
   PubMed Web of Science ®Google Scholar
• Aghajanova, L., Altmäe, S., Bjuresten, K., Hovatta, O., Landgren, B.M., & Stavreus-Evers, A. (2009). Disturbances in the LIF pathway in the endometrium among women with unexplained infertility. Fertility and Sterility, 91, 2602–2610.
   PubMedGoogle Scholar
• Aghajanova, L., Rumman, A., Altmäe, S., Wanggren, K., & Stavreus-Evers, A. (2010). Diminished endometrial expression of ghrelin and ghrelin receptor contributes to infertility. Reproductive Sciences, 17, 823–832.
   PubMedGoogle Scholar
• Altmäe, S., Kallak, T.K., Friden, B., & Stavreus-Evers, A. (2011a). Variation in Hyaluronan-Binding Protein 2 (HABP2) Promoter Region is Associated With Unexplained Female Infertility. Reproductive Sciences, 18, 485–492.
   PubMed Web of Science ®Google Scholar
• Altmäe, S., Martinez-Conejero, J.A., Esteban, F.J., Ruiz-Alonso, M., Stavreus-Evers, A., Horcajadas, J.A., & Salumets, A. (2013). MicroRNAs miR-30b, miR-30d, and miR-494 Regulate Human Endometrial Receptivity. Reproductive Sciences, 20, 308–317.
   PubMed Web of Science ®Google Scholar
• Altmäe, S., Martinez-Conejero, J.A., Salumets, A., Simon, C., Horcajadas, J.A., & Stavreus-Evers, A. (2010). Endometrial gene expression analysis at the time of embryo implantation in women with unexplained infertility. Molecular Human Reproduction, 16, 178–187.
   PubMed Web of Science ®Google Scholar
• Altmäe, S., Reimand, J., Hovatta, O., Zhang, P., Kere, J., Laisk, T., et al. (2012). Research resource: interactome of human embryo implantation: identification of gene expression pathways, regulation, and integrated regulatory networks. Molecular Endocrinology, 26, 203–217.
   PubMedGoogle Scholar
• Altmäe, S., Salumets, A., Bjuresten, K., Kallak, T.K., Wanggren, K., Landgren, B.M., et al. (2011b). Tissue factor and tissue factor pathway inhibitors TFPI and TFPI2 in human secretory endometrium–possible link to female infertility. Reproductive Sciences, 18, 666–678.
   PubMedGoogle Scholar
• Balcer-Kubiczek, E.K., Harrison, G.H., Xu, J.F., & Gutierrez, P.L. (2002). Coordinate late expression of trefoil peptide genes (pS2/TFF1 and ITF/TFF3) in human breast, colon, and gastric tumor cells exposed to X-rays. Molecular Cancer Therapeutics, 1, 405–415.
   PubMedGoogle Scholar
• Barrett, J.C., Fry, B., Maller, J., & Daly, M.J. (2005). Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263–265.
   PubMed Web of Science ®Google Scholar
• Bhagwat, S.R., Chandrashekar, D.S., Kakar, R., Davuluri, S., Bajpai, A.K., Nayak, S., et al. (2013). Endometrial receptivity: a revisit to functional genomics studies on human endometrium and creation of HGEx-ERdb. PLoS One, 8, e58419. doi:10.1371.
   PubMed Web of Science ®Google Scholar
• Bignotti, E., Ravaggi, A., Tassi, R.A., Calza, S., Rossi, E., Falchetti, M., et al. (2008). Trefoil factor 3: a novel serum marker identified by gene expression profiling in high-grade endometrial carcinomas. British Journal of Cancer, 99, 768–773.
   PubMed Web of Science ®Google Scholar
• Boivin, J., Bunting, L., Collins, J.A., & Nygren, K.G. (2007). International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Human Reproduction, 22, 1506–1512.
   PubMed Web of Science ®Google Scholar
• Borthwick, J.M., Charnock-Jones, D.S., Tom, B.D., Hull, M.L., Teirney, R., Phillips, S.C., & Smith, S.K. (2003). Determination of the transcript profile of human endometrium. Molecular Human Reproduction, 9, 19–33.
   PubMed Web of Science ®Google Scholar
• Chen, Y., Chen, C., Yang, B., Xu, Q., Wu, F., Liu, F., et al. (2011). Estrogen receptor-related genes as an important panel of predictors for breast cancer response to neoadjuvant chemotherapy. Cancer Letters, 302, 63–68.
   PubMed Web of Science ®Google Scholar
• ESHRE. (1996). Infertility revisited: the state of the art today and tomorrow. The ESHRE Capri Workshop. European Society for Human Reproduction and Embryology. Human Reproduction, 11, 1779–1807.
   PubMedGoogle Scholar
• Gabriel, S.B., Schaffner, S.F., Nguyen, H., Moore, J.M., Roy, J., Blumenstiel, B., et al. (2002). The structure of haplotype blocks in the human genome. Science, 296, 2225–2229.
   PubMed Web of Science ®Google Scholar
• Gipson, I.K., Blalock, T., Tisdale, A., Spurr-Michaud, S., Allcorn, S., Stavreus-Evers, A., & Gemzell, K. (2008). MUC16 is lost from the uterodome (pinopode) surface of the receptive human endometrium: in vitro evidence that MUC16 is a barrier to trophoblast adherence. Biology of Reproduction, 78, 134–142.
   PubMed Web of Science ®Google Scholar
• Giudice, L.C. (1999). Genes associated with embryonic attachment and implantation and the role of progesterone. Journal of Reproductive Medicine, 44, 165–171.
   PubMed Web of Science ®Google Scholar
• Horcajadas, J.A., Pellicer, A., & Simon, C. (2007). Wide genomic analysis of human endometrial receptivity: new times, new opportunities. Human Reproduction Update, 13, 77–86.
   PubMed Web of Science ®Google Scholar
• Horne, A.W., Lalani, E.N., Margara, R.A., Ryder, T.A., Mobberley, M.A., & White, J.O. (2005). The expression pattern of MUC1 glycoforms and other biomarkers of endometrial receptivity in fertile and infertile women. Molecular Reproduction and Development, 72, 216–229.
   PubMedGoogle Scholar
• Kannan, N., Kang, J., Kong, X., Tang, J., Perry, J.K., Mohankumar, K.M., et al. (2010). Trefoil factor 3 is oncogenic and mediates anti-estrogen resistance in human mammary carcinoma. Neoplasia, 12, 1041–1053.
   PubMedGoogle Scholar
• Kao, L.C., Tulac, S., Lobo, S., Imani, B., Yang, J.P., Germeyer, A., et al. (2002). Global gene profiling in human endometrium during the window of implantation. Endocrinology, 143, 2119–2138.
   PubMed Web of Science ®Google Scholar
• Lessey, B.A. (2010). Fine tuning of endometrial function by estrogen and progesterone through microRNAs. Biology of Reproduction, 82, 653–655.
   PubMedGoogle Scholar
• Lobo, S.C., Huang, S.T., Germeyer, A., Dosiou, C., Vo, K.C., Tulac, S., et al. (2004). The immune environment in human endometrium during the window of implantation. American Journal of Reproductive Immunology, 52, 244–51.
   PubMedGoogle Scholar
• Maxwell, G.L., Chandramouli, G.V., Dainty, L., Litzi, T.J., Berchuck, A., Barrett, J.C., & Risinger, J.I. (2005). Microarray analysis of endometrial carcinomas and mixed mullerian tumors reveals distinct gene expression profiles associated with different histologic types of uterine cancer. Clinical Cancer Research, 11, 4056–4066.
   PubMed Web of Science ®Google Scholar
• Maybin, J.A., Critchley, H.O., & Jabbour, H.N. (2011). Inflammatory pathways in endometrial disorders. Molecular and Cellular Endocrinology, 335, 42–51.
   PubMed Web of Science ®Google Scholar
• Meseguer, M., Aplin, J.D., Caballero-Campo, P., O’Connor, J.E., Martin, J.C., Remohi, J., et al. (2001). Human endometrial mucin MUC1 is up-regulated by progesterone and down-regulated in vitro by the human blastocyst. Biology of Reproduction, 64, 590–601.
   PubMed Web of Science ®Google Scholar
• Mhawech-Fauceglia, P., Wang, D., Samrao, D., Liu, S., Dupont, N.C., & Pejovic, T. (2013). Trefoil factor family 3 (TFF3) expression and its interaction with estrogen receptor (ER) in endometrial adenocarcinoma. Gynecologic Oncology, pii, S0090-8258(13)00215-1.
   PubMedGoogle Scholar
• Mor, G., Cardenas, I., Abrahams, V., & Guller, S. (2011). Inflammation and pregnancy: the role of the immune system at the implantation site. Annals of the New York Academy of Sciences, 1221, 80–87.
   PubMed Web of Science ®Google Scholar
• Munro, S.K., Farquhar, C.M., Mitchell, M.D., & Ponnampalam, A.P. (2010). Epigenetic regulation of endometrium during the menstrual cycle. Molecular Human Reproduction, 16, 297–310.
   PubMed Web of Science ®Google Scholar
• Noyes, R.W., Hertig, A.T., & Rock, J. (1975). Dating the endometrial biopsy. American Journal of Obstetrics and Gynecology, 122, 262–263.
   PubMedGoogle Scholar
• Ravn, V., Rasmussen, B.B., Hojholt, L., Barfoed, M., Heiberg, I., & Thorpe, S.M. (1993). Reproducibility of subjec tive immunohistochemical estrogen- and progesterone receptor determination in human endometrium. Pathology, Research and Practice, 189, 1015–1022.
   PubMedGoogle Scholar
• Samson, M.H., Vestergaard, E.M., Milman, N., Poulsen, S.S., & Nexo, E. (2008). Circulating serum trefoil factors increase dramatically during pregnancy. Scandinavian Journal of Clinical and Laboratory Investigation, 68, 369–374.
   PubMed Web of Science ®Google Scholar
• Stavreus-Evers, A., Ha, C., Kallak, T., Altmäe, S., Landgren, B.M., & Rees, M.C. (2011). Low calcitonin receptor like receptor expression in endometrial vessels from women with unexplained infertility. Gynecological Endocrinology, 27, 655–660.
   PubMed Web of Science ®Google Scholar
• Tapia, A., Gangi, L.M., Zegers-Hochschild, F., Balmaceda, J., Pommer, R., Trejo, L., et al. (2008). Differences in the endo metrial transcript profile during the receptive period between women who were refractory to implantation and those who achieved pregnancy. Human Reproduction, 23, 340–351.
   PubMed Web of Science ®Google Scholar
• Vestergaard, E.M., Nexo, E., Torring, N., Borre, M., Orntoft, T.F., & Sorensen, K.D. (2010). Promoter hypomethylation and upregulation of trefoil factors in prostate cancer. International Journal of Cancer, 127, 1857–1865.
   PubMed Web of Science ®Google Scholar
• Vestergaard, E.M., Poulsen, S.S., Gronbaek, H., Larsen, R., Nielsen, A.M., Ejskjaer, K., et al. (2002). Development and evaluation of an ELISA for human trefoil factor 3. Clinical Chemistry, 48, 1689–1695.
   PubMed Web of Science ®Google Scholar
• Weiss, G., Goldsmith, L.T., Taylor, R.N., Bellet, D., & Taylor, H.S. (2009). Inflammation in reproductive disorders. Reproductive Sciences, 16, 216–229.
   PubMed Web of Science ®Google Scholar
• WHO. (1999). Laboratory manual for the examination of human semen and sperm-cervical mucus interaction. 4th edn. Cambridge: Cambridge University Press.
   Google Scholar
• Wiede, A., Hinz, M., Canzler, E., Franke, K., Quednow, C., & Hoffmann, W. (2001). Synthesis and localization of the mucin-associated TFF-peptides in the human uterus. Cell and Tissue Research, 303, 109–115.
   PubMedGoogle Scholar
• Xu, B.F., Sun, X.X., Feng, Y., Zhang, A.J., & Cheng, L.N. (2011). Mechanism of hypoxia inducing factor-1α in low endometrial receptivity. Zhonghua Fu Chan Ke Za Zhi, 46, 355–359.
   PubMedGoogle Scholar
• Zhang, B.L., Xu, R.L., Qin, Y.W., Zheng, X., Wu, H., You, X.H., et al. (2012). Potential candidate genes for alveolar hypoxia identified by transcriptome network analysis. Medicina (Kaunas), 48, 572–580.
   PubMedGoogle Scholar