BIBLIOGRAFIA Genetic Periodontal Screening (GPS)

Home Odontoiatria GPS Bibliografia referto

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
  • Guzman-Fulgencio, M. et al., IL7RA polymorphisms predict the CD4+ recovery in HIV patients on cART. Stichting European Society for Clinical Investigation Journal Foundation 2015. DOI: 10.1111/eci.12539
  • Hoyer, K.K. et al., Interleukin-2 in the development and control of inflammatory disease. Immunological Reviews 2008 Vol. 226: 19–28. doi:10.1111/j.1600-065x.2008.006
  • 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
  • Zhang, H-X. Et al., Identification of IL-7 as a candidate disease mediator in osteoarthritis in Chinese Han population: a case-control study. Rheumatology (Oxford). 2016 Sep;55(9):1681-5. doi:10.1093/rheumatology/kew220. Epub 2016 May 27.
  • Albers, H.M. et al., Association of the autoimmunity locus 4q27 with juvenile idiopathic arthritis. Arthritis Rheum. 2009 Mar;60(3):901-4. doi: 10.1002/art.24296.
  • Ceausu, A. et al., IL-7/IL-7R gene variants impact circulating IL-7/IL-7R homeostasis and ART-associated immune recovery statu. Sci Rep. 2019 Oct 31;9(1):15722. doi: 10.1038/s41598-019-52025-8.
  • Areeshi MY et al., IFN-γ +874 A>T (rs2430561) gene polymorphism and risk of pulmonary tuberculosis: a meta-analysis. Arch Med Sci 2021; 17 (1): 177–188, DOI:
  • Ghermi M et al., Interferon-γ (+874 T/A) and interleukin-10 (-1082 G/A) genes polymorphisms are associated with active tuberculosis in the Algerian population of Oran’s city. Indian J Tuberc. 2021 Apr;68(2):221-229. doi: 10.1016/j.ijtb.2020.08.015. Epub 2020 Aug 26.
  • Schneider-Matyka D et al., The Relationship between the IFNG (rs2430561) Polymorphism and Metabolic Syndrome in Perimenopausal  Women. Medicina 2020, 56, 384; doi:10.3390/medicina56080384


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 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.
  • 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.
  • Songcheng, Y. et al., Family-based 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. Diabetes. 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 JB 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.
  • A Arabi et al., CYP2R1 polymorphisms are important modulators of  circulating 25-hydroxyvitamin D levels in elderly females with vitamin  insufficiency, but not of the response to vitamin D supplementation. Osteoporos Int. 2017 Jan;28(1):279-290. doi:10.1007/s00198-016-3713-5.
  • 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.
  • Leizhen Duan et al., Effects of CYP2R1 gene variants on vitamin D levels and status: A systematic review and meta-analysis. Gene. 2018  Dec 15; 678:361-369. doi: 10.1016/j.gene.2018.08.056.
  • 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.