Polymorphisms and haplotypes in VDR gene are associated with female idiopathic infertility

References

• Aghajafari, F., Nagulesapillai, T., Ronksley, P.E., Tough, S.C., O'Beirne, M., & Rabi, D.M. (2013). Association between maternal serum 25-hydroxyvitamin D level and pregnancy and neonatal outcomes: A systematic review and meta-analysis of observational studies. BMJ, 346, f1169. doi: 10.1136/bmj.f1169.
   PubMed Web of Science ®Google Scholar
• Aslan, S., Akil, I., Aslan, G., Onay, H., Ozyurt, B.C., & Ozkinay, F. (2012). Vitamin D receptor gene polymorphism in children with urinary tract infection. Pediatric Nephrology, 27, 417–421. doi: 10.1007/s00467-011-2000-0.
   PubMed Web of Science ®Google Scholar
• Barrera, D., Avila, E., Hernandez, G., Halhali, A., Biruete, B., Larrea, F., & Díaz, L. (2007). Estradiol and progesterone synthesis in human placenta is stimulated by calcitriol. Journal of Steroid Biochemistry and Molecular Biology, 103, 529–532. doi: 10.1016/j.jsbmb.2006.12.097.
   PubMed Web of Science ®Google Scholar
• Basit, S. (2013). Vitamin D in health and disease: A literature review. British Journal of Biomedical Science, 70, 161–172. doi: 10.1080/09674845.2013.11669951.
   PubMed Web of Science ®Google Scholar
• Blomberg Jensen, M., Nielsen, J.E., Jorgensen, A., Rajpert-De Meyts, E., Kristensen, D.M., Jorgensen, N., … Leffers, H. (2010). Vitamin D receptor and vitamin D metabolizing enzymes are expressed in the human male reproductive tract. Human Reproduction, 25, 1303–1311. doi: 10.1093/humrep/deq024.
   PubMed Web of Science ®Google Scholar
• Bodnar, L.M., Krohn, M.A., & Simhan, H.N. (2009). Maternal vitamin D deficiency is associated with bacterial vaginosis in the first trimester of pregnancy. The Journal of Nutrition, 139, 1157–1161. doi: 10.3945/jn.108.103168.
   PubMed Web of Science ®Google Scholar
• Bonney, E.A. (2016). Immune regulation in pregnancy. A matter of perspective? Obstetrics and Gynecology Clinics of North America, 43, 679–698. doi: 10.1016/j.ogc.2016.07.004.
   PubMed Web of Science ®Google Scholar
• Chang, S., & Aune, T.M. (2005). Histone hyperacetylated domains across the lfng gene region in natural killer cells and T cells. Proceedings of the National Academy of Sciences of the United States of America, 102, 17095–17100. doi: 10.1073/pnas.0502129102.
   PubMed Web of Science ®Google Scholar
• Colonese, F., Lagana, A.S., Colonese, E., Sofo, V., Salmeri, F.M., Granese, R., & Triolo, O. (2015). The pleiotropic effects of vitamin D in gynaecological and obstetric diseases: an overview on a hot topic. Biomed Research International, 2015, 1. doi: 10.1155/2015/986281.
   Web of Science ®Google Scholar
• Cooper, G.S., & Umbach, D.M. (2010). Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. Journal of Bone and Mineral Research, 11, 1841–1849. doi: 10.1002/jbmr.5650111203.
   Google Scholar
• Correa-Rodríguez, M., Carrillo-Ávila, J.A., Schmidt-RioValle, J., González-Jiménez, E., Vargas, S., Martín, J., & Rueda-Medina, B. (2018). Genetic association analysis of vitamin D receptor gene polymorphisms and obesity-related phenotypes. Gene, 640, 51–56. doi: 10.1016/j.gene.2017.10.029.
   PubMed Web of Science ®Google Scholar
• Denzer, N., Vogt, T., & Reichrath, J. (2011). Vitamin D receptor (VDR) polymorphisms and skin cancer: A systematic review. Dermato-endocrinology, 3, 205–210. doi: 10.4161/derm.3.3.16519.
   PubMedGoogle Scholar
• Di Rosa, M., Malaguarnera, M., Nicoletti, F., & Malaguarnera, L. (2011). Vitamin D3: A helpful immuno-modulator. Immunology, 134, 123–139. doi: 10.1111/j.1365-2567.2011.03482.x.
   PubMed Web of Science ®Google Scholar
• Diaz, L., Sanchez, I., Avila, E., Halhali, A., Vilchis, F., & Larrea, F. (2000). Identification of a 25-hydroxyvitamin D3 1alpha-hydroxylase gene transcription product in cultures of human syncytiotrophoblast cells. Journal of Clinical Endocrinology and Metabolism, 85, 2543–2549. doi: 10.1210/jcem.85.7.6693.
   PubMed Web of Science ®Google Scholar
• Djurovic, J., Stojkovic, O., Ozdemir, O., Silan, F., Akurut, C., Todorovic, J., … Stamenkovic, G. (2015). Association between FokI, ApaI and TaqI RFLP polymorphisms in VDR gene and Hashimoto’s thyroiditis: Preliminary data from female patients in Serbia. International Journal of Immunogenetics, 42, 190–194. doi: 10.1111/iji.12199.
   PubMed Web of Science ®Google Scholar
• Evans, K.N., Bulmer, J.N., Kilby, M.D., & Hewison, M. (2004). Vitamin D and placental-decidual function. Journal of the Society for Gynecologic Investigation, 11, 263–271. doi: 10.1016/j.jsgi.2004.02.002.
   PubMedGoogle Scholar
• Figueiredo, A.S., & Schumacher, A. (2016). The T helper type 17/regulatory T cell paradigm in pregnancy. Immunology, 148, 13–21. doi: 10.1111/imm.12595
   PubMed Web of Science ®Google Scholar
• Haussler, M.R., & Norman, A.W. (1969). Chromosomal receptor for a vitamin D metabolite. Proceedings of the National Academy of Sciences of the United States of America, 62, 155–162. doi: 10.1073/pnas.62.1.155.
   PubMed Web of Science ®Google Scholar
• Hollis, B.W., & Wagner, C.L. (2017). New insights into the vitamin D requirements during pregnancy. Bone Research, 5, 17030. doi: 10.1038/boneres.2017.30
   PubMed Web of Science ®Google Scholar
• Isik, G., Demirezen, S., Donmez, H.G., & Beksac, M.S. (2016). Bacterial vaginosis in association with spontaneous abortion and recurrent pregnancy losses. Journal of Cytology, 33, 135–140. doi: 10.4103/0970-9371.188050.
   PubMed Web of Science ®Google Scholar
• Izzo, C.R., Monteleone, P.A., & Serafani, P.C. (2015). Human reproduction: Current status. Revista da Associaćaõ Médica Brasileira (1992), 6, 557–559. doi: 10.1590/1806-9282.61.06.557.
   Web of Science ®Google Scholar
• Javorski, N., Lima, C.A.D., Silva, L.V.C., Crovella, S., & de Azêvedo Silva, J. (2018). Vitamin D receptor (VDR) polymorphisms are associated to spontaneous preterm birth and maternal aspects. Gene, 642, 58–63. doi: 10.1016/j.gene.2017.10.087.
   PubMed Web of Science ®Google Scholar
• Jurutka, P.W., Whitfield, G.K., Hsieh, J.C., Thompson, P.D., Haussler, C.A., & Haussler, M.R. (2001). Molecular nature of the vitamin D receptor and its role in regulation of gene expression. Reviews in Endocrine and Metabolic Disorders, 2, 203–216. doi: 10.1023/A:1010062929140.
   PubMedGoogle Scholar
• Li, Q., & Verma, I.M. (2002). NF-kappaB regulation in the immune system. Nature Reviews Immunology, 2, 725–734. doi: 10.1038/nri910.
   PubMed Web of Science ®Google Scholar
• Liao, W., Lin, J.X., & Leonard, W.J. (2011). IL-2 family cytokines: New insights into the complex roles of IL-2 as a broad regulator of T helper cell differentiation. Current Opinion in Immunology, 23, 598–604. doi: 10.1016/j.coi.2011.08.003.
   PubMed Web of Science ®Google Scholar
• Liu, J.J., Bertrand, K.A., Karageorgi, S., Giovannucci, E., Hankinson, S.E., Rosner, B., … De Vivo, I. (2013). Prospective analysis of vitamin D and endometrial cancer risk. Annals of Oncology, 24, 687–692. doi: 10.1093/annonc/mds509.
   PubMed Web of Science ®Google Scholar
• Liu, N.Q., & Hewison, M. (2012). Vitamin D, the placenta and pregnancy. Archives of Biochemistry and Biophysics, 523, 37–47. doi: 10.1016/j.abb.2011.11.018.
   PubMed Web of Science ®Google Scholar
• Mascarenhas, M.N., Flaxman, S.R., Boerma, T., Vanderpoel, S., & Stevens, G.A. (2012). National, regional and global trends in infertility prevalence since 1990: A systematic analysis of 277 health surveys. PLOS Medicine, 9, e1001356. doi: 10.1371/journal.pmed.1001356
   PubMed Web of Science ®Google Scholar
• McNally, J.D., Sampson, M., Matheson, L.A., Hutton, B., & Little, J. (2014). Vitamin D receptor (VDR) polymorphisms and severe RSV bronchiolitis: A systematic review and meta-analysis. Pediatric Pulmonology, 49, 790–799. doi: 10.1002/ppul.22877.
   PubMed Web of Science ®Google Scholar
• Medawar, P.B. (1953). Some immunological and endocrinological problems raised by the evolution of viviparity in vertebrates. Symposia of the Society for Experimental Biology, 7, 320–338.
   Google Scholar
• Morrison, N.A., Yeoman, R., Kelly, P.J., & Eisman, J.A. (1992). Contribution of trans-acting factor alleles to normal physiological variability: Vitamin D receptor gene polymorphism and circulating osteocalcin. Proceedings of the National Academy of Sciences of the United States of America, 89, 6665–6669. doi: 10.1073/pnas.89.15.6665.
   PubMed Web of Science ®Google Scholar
• Nelson, D.B., Hanlon, A.L., Wu, G., Liu, C., & Fredricks, D.N. (2015). First trimester levels of BV-associated bacteria and risk of miscarriage among women early in pregnancy. Maternal and Child Health Journal, 19, 2682–2687. doi: 10.1007/s10995-015-1790-2.
   PubMed Web of Science ®Google Scholar
• Oh, J.J., Byun, S.-S., Lee, S.E., Hong, S.K., Jeong, C.W., Kim, D., … Myung, S.C. (2014). Genetic variations in VDR associated with prostate cancer risk and progression in a Korean population. Gene, 533, 86–93. doi: 10.1016/j.gene.2013.09.119.
   PubMed Web of Science ®Google Scholar
• Pani, M.A., Knapp, M., Donner, H., Braun, J., Baur, M.P., Usadel, K.H., & Badenhoop, K. (2000). Vitamin D receptor allele combinations influence genetic susceptibility to type 1 diabetes in Germans. Diabetes, 49, 504–507. doi: 10.2337/diabetes.49.3.504.
   PubMed Web of Science ®Google Scholar
• Pospechova, K., Rozehnal, V., Stejskalova, L., Vrzal, R., Pospisilova, N., Jamborova, G., … Pavek, P. (2009). Expression and activity of vitamin D receptor in the human placenta and choriocarcinoma BeWo and JEG-3 cell lines. Molecular and Cellular Endocrinology, 299, 178–187. doi: 10.1016/j.mce.2008.12.003.
   PubMed Web of Science ®Google Scholar
• Saito, S., Nakashima, A., Shima, T., & Ito, M. (2010). Th1/Th2/Th17 and regulatory T-cell paradigm in pregnancy. American Journal of Reproductive Immunology, 63, 601–610. doi: 10.1111/j.1600-0897.2010.00852.x.
   PubMed Web of Science ®Google Scholar
• Salamonsen, L.A., Nie, G., & Findlay, J.K. (2002). Newly identified endometrial genes of importance for implantation. Journal of Reproductive Immunology, 53, 215–225. doi: 10.1016/S0165-0378(01)00087-0.
   PubMed Web of Science ®Google Scholar
• Selvaraj, P., Prabhu Anand, S., Harishankar, M., & Alagarasu, K. (2009). Plasma 1,25 dihydroxy vitamin D3 level and expression of vitamin D receptor and cathelicidin in pulmonary tuberculosis. Journal of Clinical Immunology, 29, 470–478. doi: 10.1007/s10875-009-9277-9.
   PubMed Web of Science ®Google Scholar
• Shin, J.S., Choi, M.Y., Longtine, M.S., & Nelson, D.M. (2010). Vitamin D effects on pregnancy and the placenta. Placenta, 31, 1027–1034. doi: 10.1016/j.placenta.2010.08.015.
   PubMed Web of Science ®Google Scholar
• Uitterlinden, A.G., Fang, Y., Van Meurs, J.B., Pols, H.A., & Van Leeuwen, J.P. (2004). Genetics and biology of vitamin D receptor polymorphisms. Gene, 338, 143–156. doi: 10.1016/j.gene.2004.05.014.
   PubMed Web of Science ®Google Scholar
• van Etten, E., Verlinden, L., Giulietti, A., Ramos-Lopez, E., Branisteanu, D. D., Ferreira, G. B., … Mathieu, C. (2007). The vitamin D receptor gene FokI polymorphism: Functional impact on the immune system. European Journal of Immunology, 37, 395–405. doi: 10.1002/eji.200636043.
   PubMed Web of Science ®Google Scholar
• Van Schooten, F.J., Hirvonen, A., Maas, L.M., De Mol, B.A., Kleinjans, J.C., Bell, D.A., & Durrer, J.D. (1998). Putative susceptibility markers of coronary artery disease: Association between VDR genotype, smoking, and aromatic DNA adduct levels in human right atrial tissue. FASEB Journal, 12, 1409–1417. doi: 10.1096/fasebj.12.13.1409.
   PubMed Web of Science ®Google Scholar
• Viganò, P., Lattuada, D., Mangioni, S., Ermellino, L., Vignali, M., Caporizzo, E., … Di Blasio, A.M. (2006). Cycling and early pregnant endometrium as a site of regulated expression of the vitamin D system. Journal of Molecular Endocrinology, 36, 415–424. doi: 10.1677/jme.1.01946.
   PubMed Web of Science ®Google Scholar
• Wegmann, T.G., Lin, H., Guilbert, L., & Mosmann, T.R. (1993). Bidirectional cytokine interactions in the maternal–fetal relationship: Is successful pregnancy a Th2 phenomenon? Immunology Today, 14, 353–356. doi: 10.1016/0167-5699(93)90235-D.
   PubMedGoogle Scholar
• Kerr Whitfield, G., Remus, L.S., Jurutka, P.W., Zitzer, H., Oza, A.K., Dang, H.T.L., … Haussler, M.R. (2001). Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Molecular and Cellular Endocrinology, 177, 145–159. doi: 10.1016/S0303-7207(01)00406-3.
   PubMed Web of Science ®Google Scholar
• Yu, W., Ge, M., Shi, J., Li, X., Zhang, J., Wang, M., … Zheng, Y. (2016). Role of vitamin D receptor gene polymorphisms in aplastic anemia: A case-control study from China. International Journal of Laboratory Hematology, 38, 273–283. doi: 10.1111/ijlh.12480.
   PubMed Web of Science ®Google Scholar