Informazioni generali sui geni, SNPs e patologie


Pannello Infiammatorio

  • Hu, K.F. et al., Interleukin-10 (-592 C/A) and interleukin-12B (+16974 A/C) gene polymorphisms and the interleukin-10 ATA haplotype are associated with periodontitis in a Taiwanese population. J Periodontal Res. 2009 Jun;44(3):378-85. doi:10.1111/j.1600-0765.2008.01116.x.
  • Nibali, L. et al., Gene polymorphisms and the prevalence of key periodontal pathogens. J Dent Res. 2007 May;86(5):416-20. doi: 10.1177/154405910708600505.
  • Ho, Y-P. et al., Cyclooxygenase-2 Gene-765 single nucleotide polymorphism as a protective factor against periodontitis in Taiwanese. J Clin Periodontol. 2008 Jan;35(1):1-8. doi: 10.1111/j.1600-051X.2007.01167.x.
  • Morrison, N. et al., Prediction of bone density from vitamin D receptor alleles. Nature. 1994 Jan 20;367(6460):284-7. doi: 10.1038/367284a0.
  • Singh, P. et al., Salivary TNF-alpha: A potential marker of periodontal destruction. J Indian Soc Periodontol. 2014 May;18(3):306-10. doi:10.4103/0972-124X.134566.
  • Fichna, M. et al., Polymorphic variant at the IL2 region is associated with type 1 diabetes and may affect serum levels of interleukin-2. Mol Biol Rep (2013) 40:6957–6963. DOI 10.1007/s11033-013-2815-9
  • Schmiedel, B.J. et al., Impact of Genetic Polymorphisms on Human Immune Cell Gene Expression. Cell 175, 1701–1715, November 29, 2018.
  • Vandenbroeck, K., Cytokine Gene Polymorphisms and Human Autoimmune Disease in the Era of Genome-Wide Association Studies. JOURNAL OF INTERFERON & CYTOKINE RESEARCH Volume 32, Number 4, 2012. DOI: 10.1089/jir.2011.0103 Sep;55(9):1681-5. doi:10.1093/rheumatology/kew220. Epub 2016 May 27.
  • Raquel M. Scarel-Caminaga et al., Haplotypes in the Interleukin 8 Gene and Their Association with Chronic Periodontitis Susceptibility. Biochem Genet (2011) 49:292–302 DOI 10.1007/s10528-010- 9407-3


Pannello Metabolismo Osseo

  • Mann, V. et al., Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture. 2003 Jun;32(6):711-7. doi: 10.1016/s8756-3282(03)00087-5.
  • Gomes-Rochette, N.F. et al., Association of PvuII and XbaI polymorphisms on estrogen receptor alpha (ESR1) gene to changes into serum lipid profile of post-menopausal women: Effects of aging, body mass index and breast cancer incidence. PLoS One. 2017 Feb 15;12(2):e0169266. doi: 10.1371/journal.pone.0169266.
  • Jeon and ShinExploring vitamin D metabolism and function in cancer. Exp Mol Med. 2018 Apr 16;50(4):1-14. doi: 10.1038/s12276-018-0038-9.
  • 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.
  • 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.
  • 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.
  • 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.
  • Feng-Xiao Bu 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 Wang et al., Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010 Jul  17;376(9736):180-8. doi: 10.1016/S0140-6736(10)60588-0.
  • Jiyoung Ahn 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



  • Ford, E.S. et al., Homocyst(e)ine and cardiovascular disease: a systematic review of the evidence with special emphasis on case-control studies and nested case-control studies. Int J Epidemiol. 2002 Feb;31(1):59-70. doi: 10.1093/ije/31.1.59
  • De Martinis, M. el al., Hyperhomocysteinemia is Associated with Inflammation, Bone Resorption, Vitamin B12 and Folate Deficiency and MTHFR C677T Polymorphism in Postmenopausal Women with Decreased Bone Mineral DensityInt J Environ. Res Public Health 2020 Jun 15;17(12):4260.doi: 10.3390/ijerph17124260.


Trasportatori dei nutrienti (soluti)

  • Xiao-Li Zang et al., Association of a SNP in SLC35F3 Gene with the Risk of Hypertension in a Chinese Han Population. Frontiers in Genetics June 2016 | Volume 7 | Article 108 doi:
  • Kuixing Zhang et al., Genetic implication of a novel thiamine transporter in human hypertensionJ Am Coll Cardiol. 2014 April 22; 63(15): 1542–1555. doi:10.1016/j.jacc.2014.01.007.
  • Jiabi Qin et al., Association of maternal folate use and reduced folate carrier gene polymorphisms with the risk of congenital heart disease in offspring. European Journal of Pediatrics
  • Kumar NT et al. The apolipoprotein E polymorphism and cardiovascular diseases–an autopsy study. Cardiovasc Pathol 2012;21:461-9.
  • Shao A et al. Meta-analysis of the association between Apolipoprotein E polymorphism and risks of myocardial infarction. BMC Cardiovasc Disord. 2022 Mar 24;22(1):126.
  • Wu L et al. Dissecting the Association of Apolipoprotein E Gene Polymorphisms With Type 2
    Diabetes Mellitus and Coronary Artery Disease. Front Endocrinol (Lausanne). 2022 Feb
  • Zhou T et al. Association of apoE gene polymorphisms with lipid metabolism in renal diseases. Afr Health Sci. 2020 Sep;20(3):1368-1381.
  • Corder EH et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s
    disease in late onset families. Science 1993;261:921-3.