Transforming growth factor beta 1 (TGFβ1) polymorphisms and unexplained infertility: A genetic association study

References

• Amani D, Dehaghani AS, Zolghadri J, Ravangard F, Niikawa N, Yoshiura KI, Ghaderi A. 2005. Lack of association between the TGF-β1 gene polymorphisms and recurrent spontaneous abortion. J Reprod Immunol. 68(1–2):91–103.
   PubMed Web of Science ®Google Scholar
• Boivin J, Bunting L, Collins JA, Nygren KG. 2007. International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Hum Reprod. 22(6):1506–1512. doi:10.1093/humrep/dem046.
   PubMed Web of Science ®Google Scholar
• Bromberg Y, Rost B. 2007. SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res. 35(11):3823–3835. doi:10.1093/nar/gkm238.
   PubMed Web of Science ®Google Scholar
• Cambien F, Ricard S, Troesch A, Mallet C, Generenaz L, Evans A, Arveiler D, Luc G, Ruidavets JB, Poirier O. 1996. Polymorphisms of the transforming growth factor-beta 1 gene in relation to myocardial infarction and blood pressure. The Etude Cas-Temoin de l’Infarctus du Myocarde (ECTIM) Study. Hypertension. 28(5):881–887. eng. doi:10.1161/01.HYP.28.5.881.
   PubMed Web of Science ®Google Scholar
• Cao H, Zhou Q, Lan R, Røe OD, Chen X, Chen Y, Wang D. 2014. A functional polymorphism C-509T in TGFβ-1 promoter contributes to susceptibility and prognosis of lone atrial fibrillation in Chinese population. PLoS One. 9(11):e112912. doi:10.1371/journal.pone.0112912.
   PubMed Web of Science ®Google Scholar
• Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, et al. 1999. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 22(3):231–238. eng. doi:10.1038/10290.
   PubMed Web of Science ®Google Scholar
• Carp HJ, Selmi C, Shoenfeld Y. 2012. The autoimmune bases of infertility and pregnancy loss. J Autoimmun. 38(2–3):J266–J274. doi:10.1016/j.jaut.2011.11.016.
   PubMed Web of Science ®Google Scholar
• Cebinelli GCM, Trugilo KP, Garcia SB, de Oliveira KB. 2016. TGF-β1 functional polymorphisms: a review. Eur Cytokine Netw. 27(4):81–89. doi:10.1684/ecn.2016.0382.
   PubMed Web of Science ®Google Scholar
• Chatterjee S, Pal JK. 2009. Role of 5′‐and 3′‐untranslated regions of mRNAs in human diseases. Biol Cell. 101(5):251–262. doi:10.1042/BC20080104.
   PubMed Web of Science ®Google Scholar
• Daoud H, Bonnet-Brilhault F, Védrine S, Demattéi M-V, Vourc’h P, Bayou N, Andres CR, Barthélémy C, Laumonnier F, Briault S. 2009. Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level. Biol Psychiatry. 66(10):906–910. doi:10.1016/j.biopsych.2009.05.008.
   PubMed Web of Science ®Google Scholar
• Dor J, Homburg R, Rabau E. 1977. An evaluation of etiologic factors and therapy in 665 infertile couples. Fertil Steril. 28(7):718–722. doi:10.1016/S0015-0282(16)42671-3.
   PubMed Web of Science ®Google Scholar
• Dunning AM, Ellis PD, McBride S, Kirschenlohr HL, Healey CS, Kemp PR, Luben RN, Chang-Claude J, Mannermaa A, Kataja V. 2003. A transforming growth factorβ1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer. Cancer Res. 63(10):2610–2615.
   PubMed Web of Science ®Google Scholar
• Gelbaya TA, Potdar N, Jeve YB, Nardo LG. 2014. Definition and epidemiology of unexplained infertility. Obstet Gynecol Surv. 69(2):109–115. doi:10.1097/OGX.0000000000000043.
   PubMed Web of Science ®Google Scholar
• Gorivodsky M, Torchinsky A, Zemliak I, Savion S, Fein A, Toder V. 1999. TGF beta 2 mRNA expression and pregnancy failure in mice. Am J Reprod Immunol. 42(2):124–133. eng.
   PubMed Web of Science ®Google Scholar
• Guzeloglu-Kayisli, O., Kayisli, U.A. and Taylor, H.S., 2009. The Role of Growth Factors and Cytokines during Implantation: Endocrine and Paracrine Interactions. Semin Reprod Med. 27(1):062–079
   PubMed Web of Science ®Google Scholar
• Jasper MJ, Tremellen KP, Robertson SA. 2006. Primary unexplained infertility is associated with reduced expression of the T-regulatory cell transcription factor Foxp3 in endometrial tissue. Mol Hum Reprod. 12(5):301–308. eng. doi:10.1093/molehr/gal032.
   PubMed Web of Science ®Google Scholar
• Kajdaniuk D, Marek B, Borgiel-Marek H, Kos-Kudla B. 2013. Transforming growth factor beta1 (TGFbeta1) in physiology and pathology. Endokrynol Pol. 64(5):384–396. eng. doi:10.5603/EP.2013.0022.
   PubMed Web of Science ®Google Scholar
• Kelley LA, Mezulis S, Yates CM, Wass MN, Sternberg MJ. 2015. The Phyre2 web portal for protein modeling, prediction and analysis. Nat Protoc. 10(6):845. doi:10.1038/nprot.2015.053.
   PubMed Web of Science ®Google Scholar
• Khani M, Amani D, Taheripanah R, Sanadgol N, Feizollahzadeh S, Rahmani Z. 2015. Transforming growth factor beta-1 (TGF-β1) gene single nucleotide polymorphisms (SNPs) and susceptibility to pre-eclampsia in Iranian women: A case–control study. Pregn Hyper. 5(4):267–272. doi:10.1016/j.preghy.2015.01.002.
   PubMed Web of Science ®Google Scholar
• Kingsley DM. 1994. The TGF-beta superfamily: new members, new receptors, and new genetic tests of function in different organisms. Genes Dev. 8(2):133–146. doi:10.1101/gad.8.2.133.
   PubMed Web of Science ®Google Scholar
• Krausz C. 2011. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab. 25(2):271–285. doi:10.1016/j.beem.2010.08.006.
   PubMed Web of Science ®Google Scholar
• Krstic J, Santibanez JF. 2014. Transforming growth factor-beta and matrix metalloproteinases: functional interactions in tumor stroma-infiltrating myeloid cells. The Scientific World Journal. 20(3):514–528.
   Google Scholar
• Li Q. 2014. Transforming growth factor β signaling in uterine development and function. J Anim Sci Biotechnol. 5(1):52. doi:10.1186/2049-1891-5-52.
   PubMedGoogle Scholar
• Lichtman MK, Otero‐Vinas M, Falanga V. 2016. Transforming growth factor beta (TGF‐β) isoforms in wound healing and fibrosis. Wound Repair Regen. 24(2):215–222. doi:10.1111/wrr.12398.
   PubMed Web of Science ®Google Scholar
• Magdoud K, Granados Herbepin V, Messaoudi S, Hizem S, Bouafia N, Almawi W, Mahjoub T, Touraine R. 2013. Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss. Mol Hum Reprod. 19(7):438–443. doi:10.1093/molehr/gat012.
   PubMed Web of Science ®Google Scholar
• Martelossi GC, Paiva KT, Badaró SG, de Oliveira Brajão K. 2016. TGF-β1 functional polymorphisms: a review. Eur Cytokine Netw. 27(4):81–89.
   PubMed Web of Science ®Google Scholar
• Massague J. 1990. The transforming growth factor-beta family. Annu Rev Cell Biol. 6(1):597–641. doi:10.1146/annurev.cb.06.110190.003121.
   PubMedGoogle Scholar
• McGuffin LJ, Bryson K, Jones DT. 2000. The PSIPRED protein structure prediction server. Bioinformatics. 16(4):404–405. doi:10.1093/bioinformatics/16.4.404.
   PubMed Web of Science ®Google Scholar
• Meng XM, Nikolic-Paterson DJ, Lan HY. 2016. TGF-beta: the master regulator of fibrosis. Nat Rev Nephrol. 12(6):325–338. eng. doi:10.1038/nrneph.2016.48.
   PubMed Web of Science ®Google Scholar
• Morikawa M, Derynck R, Miyazono K. 2016. TGF-beta and the TGF-beta family: context-dependent roles in cell and tissue physiology. Cold Spring Harb Perspect Biol. 8(5). eng. doi:10.1101/cshperspect.a021873.
   PubMed Web of Science ®Google Scholar
• Nasiri H, Forouzandeh M, Rasaee M, Rahbarizadeh F. 2005. Modified salting‐out method: high‐yield, high‐quality genomic DNA extraction from whole blood using laundry detergent. J Clin Lab Anal. 19(6):229–232. doi:10.1002/jcla.20083.
   PubMed Web of Science ®Google Scholar
• Ni N, Li Q. 2017. TGFbeta superfamily signaling and uterine decidualization. Reproductive Biolol and Endocrin. 15(1):84.
   Google Scholar
• Parsanezhad ME, Jahromi BN, Zare N, Keramati P, Khalili A, Parsa-Nezhad M. 2016. Epidemiology and etiology of infertility in Iran, systematic review and meta-analysis. Journal of Womens Health, Issues Care. 2(6):2–12.
   Google Scholar
• Poniatowski ŁA, Wojdasiewicz P, Gasik R, Szukiewicz D. 2015. Transforming growth factor Beta family: insight into the role of growth factors in regulation of fracture healing biology and potential clinical applications. Mediators Inflamm. 12(3):262–279.
   PubMed Web of Science ®Google Scholar
• Poppe K, Velkeniers B. 2004. Female infertility and the thyroid. Best Pract Res Clin Endocrinol Metab. 18(2):153–165. doi:10.1016/j.beem.2004.03.004.
   PubMed Web of Science ®Google Scholar
• Priyadarshi S, Ray CS, Panda KC, Desai A, Nayak SR, Biswal NC, Ramchander PV. 2013. Genetic association and gene expression profiles of TGFB1 and the contribution of TGFB1 to otosclerosis susceptibility. J Bone Miner Res. 28(12):2490–2497. doi:10.1002/jbmr.1991.
   PubMed Web of Science ®Google Scholar
• Punab M, Poolamets O, Paju P, Vihljajev V, Pomm K, Ladva R, Korrovits P, Laan M. 2016. Causes of male infertility: a 9-year prospective monocentre study on 1737 patients with reduced total sperm counts. Hum Reprod. 32(1):18–31. doi:10.1093/humrep/dew284.
   PubMed Web of Science ®Google Scholar
• Qiu T, Teng Y, Wang Y, Xu L. 2016. Adoptive transfer of transforming growth factor-β1-induced CD4+ CD25+ regulatory T cells prevents immune response-mediated spontaneous abortion. Reprod Fertil Dev. 28(11):1788–1797. doi:10.1071/RD14503.
   Web of Science ®Google Scholar
• Randall LL, Hardy SJ. 1989. Unity in function in the absence of consensus in sequence: role of leader peptides in export. Science. 243(4895):1156–1159. eng. doi:10.1126/science.2646712.
   PubMed Web of Science ®Google Scholar
• Robertson SA, Guerin LR, Moldenhauer LM, Hayball JD. 2009. Activating T regulatory cells for tolerance in early pregnancy - the contribution of seminal fluid. J Reprod Immunol. 83(1–2):109–116. eng. doi:10.1016/j.jri.2009.08.003.
   PubMed Web of Science ®Google Scholar
• Robertson SA, Ingman WV, O’Leary S, Sharkey DJ, Tremellen KP. 2002. Transforming growth factor β—a mediator of immune deviation in seminal plasma. J Reprod Immunol. 57(1–2):109–128. doi:10.1016/S0165-0378(02)00015-3.
   PubMed Web of Science ®Google Scholar
• Roupa Z, Polikandrioti M, Sotiropoulou P, Faros E, Koulouri A, Wozniak G, Gourni M. 2009. Causes of infertility in women at reproductive age. Health Sci J. 3:2.
   Google Scholar
• Roy A, Kucukural A, Zhang Y. 2010. I-TASSER: a unified platform for automated protein structure and function prediction. Nat Protoc. 5(4):725. doi:10.1038/nprot.2010.5.
   PubMed Web of Science ®Google Scholar
• Sabarinathan R, Tafer H, Seemann SE, Hofacker IL, Stadler PF, Gorodkin J. 2013. The RNAsnp web server: predicting SNP effects on local RNA secondary structure. Nucleic Acids Res. 41(W1):W475–W479. doi:10.1093/nar/gkt291.
   PubMed Web of Science ®Google Scholar
• Sachidanandam R, Weissman D, Schmidt SC, Kakol JM, Stein LD, Marth G, Sherry S, Mullikin JC, Mortimore BJ, Willey DL, et al. 2001. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 409(6822):928–933. eng.
   PubMed Web of Science ®Google Scholar
• Schäfer-Somi S. 2003. Cytokines during early pregnancy of mammals: a review. Anim Reprod Sci. 75(1–2):73–94. doi:10.1016/S0378-4320(02)00222-1.
   PubMed Web of Science ®Google Scholar
• Taubenschuß E, Marton E, Mogg M, Frech B, Ehart L, Muin D, Schreiber M. 2013. The L10P polymorphism and serum levels of transforming growth factor β1 in human breast cancer. Int J Mol Sci. 14(8):15376–15385. doi:10.3390/ijms140815376.
   PubMed Web of Science ®Google Scholar
• The role of growth factors and cytokines during implantation: endocrine and paracrine interactions. Semin Reprod Med. 2009. NIH Public Access.
   Web of Science ®Google Scholar
• Traven E, Ogrinc A, Kunej T. 2017. Initiative for standardization of reporting genetics of male infertility. Syst Biol Reprod Med. 63(1):58–66.
   PubMed Web of Science ®Google Scholar
• Wilczyński JR. 2005. Th1/Th2 cytokines balance—yin and yang of reproductive immunology. Eur J Obstetr Gynecol Rep Biol. 122(2):136–143. doi:10.1016/j.ejogrb.2005.03.008.
   PubMed Web of Science ®Google Scholar
• Yates CM, Filippis I, Kelley LA, Sternberg MJ. 2014. SuSPect: enhanced prediction of single amino acid variant (SAV) phenotype using network features. J Mol Biol. 426(14):2692–2701. doi:10.1016/j.jmb.2014.04.026.
   PubMed Web of Science ®Google Scholar
• Yoshimura A, Muto G. 2010. TGF-β function in immune suppression. Negative Co-Receptors and Ligands. Springer. 12(6):127–147.
   Google Scholar