Home Test genetici D-SNP Bibliografia referto GENSOL6


Informazioni generali sui geni, SNPs e patologie


Bibliografia pannello D-SNP


  • Jeon and Shin, Exploring vitamin D metabolism and function in cancer. Exp Mol Med. 2018 Apr 16;50(4):1-14. doi: 10.1038/s12276-018-0038-9.
  • Songcheng, Y. et al., Familybased Association between Allele T of rs4646536 in CYP27B1 and vitamin D deficiency. J-Clin Lab Anal. 2019 Jul;33(6):e22898. doi: 10.1002/jcla.22898.
  • Xiaoxi, M. et al., Association of vitamin D pathway gene CYP27B1 and CYP2R1 polymorphisms with autoimmune endocrine disorders: a meta-analysis. J-Clin Endocrinol Metab. 2020 Nov 1;105(11): dgaa525. DOI: 10.1210/clinem/dgaa525
  • Signorello L.B. et al., Common variation in vitamin D pathway genes predicts circulating 25-hydroxyvitamin D Levels among African Americans. PLoS One. 2011;6(12): e28623. doi: 10.1371/journal.pone.0028623.
  • Ramos-Lopez, et al., Gestational diabetes mellitus and vitamin D deficiency: Genetic contribution of CYP27B1 and CYP2R1 polymorphisms. Obesity and Metabolism, 10(8), 683-5. doi: 10.1111/j.1463-1326.2008.00879.x.
  • Hyppönen, E. et al, Serum 25- hydroxyvitamin D and IgE-a significant but nonlinear relationship. Allergy, 64(4), 613–620. doi: 10.1111/j.1398-9995.2008.01865.x.
  • Sarah-Michelle Orton et al., Evidence for genetic regulation of vitamin D status in twins withmultiple sclerosis. Am J-Clin Nutr. 2008 Aug;88(2): 441-7.doi: 10.1093/ajcn/88.2.441.
  • Zhiyong, H. et al., The Association between Polymorphisms of Vitamin D Metabolic-Related Genes and Vitamin D 3 Supplementation in Type 2 Diabetic Patients. J-Diabetes Res. 2019 Sep 8; 2019:8289741. doi: 10.1155/2019/8289741
  • Stull,M.A., Glass-Royal, M. Musculoskeletal case of the day. Parosteal osteosarcoma of the humerus. AJR Am J Roentgenol. 1990 Jun;154(6):1331-2. doi: 10.2214/ajr.154.6.2110754.
  • Cheng, J.B. et al., De-orphanization of cytochrome P450 2R1: a microsomal vitaminD25-hydroxylase. J Biol Chem 2003 Sep 26;278(39): 38084-93. doi: 10.1074/jbc.M307028200.
  • Feng-Xiao, B. et al., Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian subjects. Hum Genet. 2010 Nov;128(5):549-56. doi: 10.1007/s00439-010-0881-9.
  • Thomas, J.W. et al., Common genetic determinants of vitamin D insufficiency: a genome-wide association study. 2010 Jul 17;376(9736):180-8. doi: 10.1016/S0140-6736(10)60588-0.
  • Leizhen, D. et al., Effects of CYP2R1 gene variants on vitamin D levels and status: A systematic review and meta-analysis. 2018 Dec 15; 678:361-369. doi: 10.1016/j.gene.2018.08.056.
  • Jiyoung, A. et al., Genome-wide association study of circulating vitamin D levels. Hum Mol Genet. 2010 Jul 1;19(13): 2739-45.doi: 10.1093/hmg/ddq155
  • Sinotte, M. et al., Genetic polymorphisms of the vitamin D binding protein and plasma concentrations of 25-hydroxyvitamin D in premenopausal women. Am J Clin Nutr. 2009 Feb;89(2):634-40.doi: 10.3945/ajcn.2008.26445.
  • Lafi, Z.M. et al., Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients. Genet Test Mol Biomarkers. 2015 Nov;19(11):629-36. doi: 10.1089/gtmb.2015.0058.
  • Muindi, J.R. et al., Serum vitamin D metabolites in colorectal cancer patients receiving cholecalciferol supplementation: correlation with polymorphisms in the vitamin D genes. Horm Cancer. 2013 Aug;4(4):242-50. doi: 10.1007/s12672-013-0139-9. Epub 2013 Feb 28.
  • Al-Daghri N.M. et al., Efficacy of vitamin D supplementation according to vitamin D-bindingprotein polymorphisms. Jul-Aug 2019;63-64:148-54.doi: 10.1016/j.nut.2019.02.003.
  • Martinaityte, I. et al., Bone mineral density is associated with vitamin D related rs6013897 and estrogen receptor polymorphism rs4870044: The Tromsø study. PLoS One. 2017 Mar 2;12(3):e0173045. doi: 10.1371/journal.pone.0173045.
  • Trummer, O. et al., Genetic Components of 25-Hydroxyvitamin D Increase in Three Randomized Controlled Trials. J Clin Med. 2020 Feb 19;9(2):570.doi: 10.3390/jcm9020570.
  • Morrison, N.A. et al., Prediction of bone density from vitamin D receptor alleles. 1994 Jan 20;367(6460):284-7. doi: 10.1038/367284a0.
  • Tobón-Arroyave, S.I. et al., Association Study of Vitamin D Receptor (VDR) – Related Genetic Polymorphisms and their Haplotypes with Chronic Periodontitis in Colombian Population. J Clin Diagn Res. 2017 Feb;11(2):ZC60-ZC66. doi:10.7860/JCDR/2017/23967.9451.
  • Rodríguez-Carrio, J. et al., Vitamin D Receptor Polymorphism and DHCR7 Contribute to the Abnormal Interplay Between Vitamin D and Lipid Profile in Rheumatoid Arthritis. Sci Rep. 2019 Feb 22;9(1):2546. doi: 10.1038/s41598-019-38756-8.
  • Patwardhan, V.G. et al., Varying relationship between 25-hydroxy-vitamin D, high density lipoprotein cholesterol, and serum 7-dehydrocholesterol reductase with sunlight exposure. J Clin Lipidol. Sep-Oct 2015;9(5):652-7. doi: 10.1016/j.jacl.2015.05.007.
  • Wehr, E. et al., Vitamin D-associated polymorphisms are related to insulin resistance and vitamin D deficiency in polycystic ovary syndrome. Eur J Endocrinol. 2011 May;164(5):741-9. doi: 10.1530/EJE-11-0134.
  • Trummer, O. et al., Genetic Components of 25-Hydroxyvitamin D Increase in Three Randomized Controlled Trials. J Clin Med. 2020 Feb 19;9(2):570.doi: 10.3390/jcm9020570.
  • Cassianne Robinson-Cohen et al., Genetic Variants Associated with Circulating Fibroblast Growth Factor 23. J Am Soc Nephrol. 2018 Oct;29(10):2583-2592. doi: 10.1681/ASN.2018020192. Epub 2018 Sep 14.