Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher disease type 1

References

• BeutlerEGrabowskiGGaucher diseaseScriverCRBeaudetALSlyWSVaileDThe Metabolic and Molecular Bases of Inherited DiseaseNew YorkMcGraw-Hill200136353668
   Google Scholar
• MehtaAEpidemiology and natural history of Gaucher’s diseaseEur J Intern Med200617SupplS2S517011471
   PubMed Web of Science ®Google Scholar
• BelmatougNStirnemannJGaucher disease type 1Orphanet2012 Available from: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11102&Disease_Disease_Search_diseaseGroup=Gaucher-disease-type-1Accessed October 4, 2018
   Google Scholar
• MasiLBrandiMLGaucher disease: the role of the specialist on metabolic bone diseasesClin Cases Miner Bone Metab201512216516926604943
   PubMedGoogle Scholar
• vom DahlSPollLdi RoccoMEvidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patientsCurr Med Res Opin20062261045106416846538
   PubMed Web of Science ®Google Scholar
• GiuffridaGCingariMRParrinelloNBone turnover markers in patients with type 1 Gaucher diseaseHematol Rep201244e2123355939
   PubMedGoogle Scholar
• I.C.G.G. (International Collaborative Gaucher Group) [homepage on the Internet]Gaucher RegistryAnnual Report2014 Available from: http://www.registrynxt.comAccessed July 15, 2017
   Google Scholar
• CharrowJScottCRLong-term treatment outcomes in Gaucher diseaseAm J Hematol201590Suppl 1S19S2426096742
   PubMed Web of Science ®Google Scholar
• SerratriceCCarballoSSerratriceJStirnemannJImiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapyCore Evid201611374727790078
   PubMedGoogle Scholar
• WenstrupRJKacenaKAKaplanPEffect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher diseaseJ Bone Miner Res200722111912617032149
   PubMed Web of Science ®Google Scholar
• Grigorescu SidoPDruganCCreţVOutcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experienceJ Inherit Metab Dis200730578378917703370
   PubMed Web of Science ®Google Scholar
• DeeganPBPavlovaETindallJOsseous manifestations of adult Gaucher disease in the era of enzyme replacement therapyMedicine2011901526021200186
   PubMed Web of Science ®Google Scholar
• MistryPKWeinrebNJKaplanPColeJAGwosdowARHangartnerTOsteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adultsBlood Cells Mol Dis2011461667221112800
   PubMed Web of Science ®Google Scholar
• BandrésEPomboIGonzález-HuarrizMRebolloALópezGGarcía-FoncillasJAssociation between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal womenJ Endocrinol Invest200528431232115966503
   PubMed Web of Science ®Google Scholar
• LangdahlBLCarstensMStenkjaerLEriksenEFPolymorphisms in the osteoprotegerin gene are associated with osteoporotic fracturesJ Bone Miner Res20021771245125512096838
   PubMed Web of Science ®Google Scholar
• RoshandelDHollidayKLEMAS Study GroupGenetic variation in the RANKL/RANK/OPG signaling pathway is associated with bone turnover and bone mineral density in menJ Bone Miner Res20102581830183820205168
   PubMed Web of Science ®Google Scholar
• GreenwoodAElsteinDZimranAAltarescuGEffect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher diseaseClin Rheumatol20102991037104120419464
   PubMed Web of Science ®Google Scholar
• ArnheimEChiccoGPhillipsMMolecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone densityRheumatol Int200828987387718317771
   PubMed Web of Science ®Google Scholar
• MagalILebelEAltarescuGSerum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher diseaseBr J Haematol20061331939716512834
   PubMed Web of Science ®Google Scholar
• Gervas-ArrugaJCebollaJJde BlasIRocaMPocoviMGiraldoPThe influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher diseasePLoS One2015105e012615325978039
   PubMed Web of Science ®Google Scholar
• DruganCJebeleanuGGrigorescu-SidoPCaillaudCCraciunAMBiochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher diseaseBlood Cells Mol Dis2002281132011814307
   PubMed Web of Science ®Google Scholar
• van DussenLLipsPEvertsVEMarkers of bone turnover in Gaucher disease: modeling the evolution of bone diseaseJ Clin Endocrinol Metab20119672194220521543432
   PubMed Web of Science ®Google Scholar
• VargiamiEDimitradouMEconomouMCristoforidisAZaferiouDILong-term response in biochemical markers of bone turnover during enzyme replacement therapy in a case-series of patients with Gaucher disease type 1 from Northern GreeceHyppokratia2016202153159
   Web of Science ®Google Scholar
• CianaGMartiniCLeopaldiABone marker alterations in patients with type 1 Gaucher diseaseCalcif Tissue Int200372318518912522660
   PubMed Web of Science ®Google Scholar
• CoxTMAertsJMBelmatougNManagement of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoringJ Inherit Metab Dis200831331933618509745
   PubMed Web of Science ®Google Scholar
• WeinrebNJCappelliniMDCoxTMA validated disease severity scoring system for adults with type 1 Gaucher diseaseGenet Med2010121445120027115
   PubMed Web of Science ®Google Scholar
• I.C.G.G. (International Collaborative Gaucher Group)Gaucher RegistryAnnual Report2006 Available from: http://www.lsdregystry.net/gaucherregistryAccessed July 15, 2017
   Google Scholar
• BoroumandMGhasemiYShiraniSAssociation between estrogen receptor-α PvuII and XbaI gene polymorphisms with extracranial carotid stenosisLab Med20114211663667
   Web of Science ®Google Scholar
• MittalRDBidHKManchandaPKKapoorRPredisposition of genetic polymorphism with the risk of urolithiasisIndian J Clin Biochem200823210611623105735
   PubMedGoogle Scholar
• KayaTIErdalMETursenUAssociation between vitamin D receptor gene polymorphism and psoriasis among the Turkish populationArch Dermatol Res2002294628628912192493
   PubMed Web of Science ®Google Scholar
• R Core Team [homepage on the Internet]R: A language and environment for statistical computingVienna, Austria2016 Available from: http://www.r-project.orgAccessed on June 15, 2017
   Google Scholar
• DengHWLiJLiJLChange of bone mass in postmenopausal Caucasian women with and without hormone replacement therapy is associated with vitamin D receptor and estrogen receptor genotypesHum Genet199810355765859860300
   PubMed Web of Science ®Google Scholar
• LeeYHWooJHChoiSJJiJDSongGGAssociations between osteoprotegerin polymorphisms and bone mineral density: A meta-analysisMol Biol Rep2010311227234
   Web of Science ®Google Scholar
• HausslerMRWhitfieldGKHausslerCAThe nuclear vitamin D receptor: biological and molecular regulatory properties revealedJ Bone Miner Res19981333253499525333
   PubMed Web of Science ®Google Scholar
• SimonetWSLaceyDLDunstanCROsteoprotegerin: a novel secreted protein involved in the regulation of bone densityCell19978923093199108485
   PubMed Web of Science ®Google Scholar
• CampeauPMRafeiMBoivinMNSunYGrabowskiGAGalipeauJCharacterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretomeBlood2009114153181319019587377
   PubMed Web of Science ®Google Scholar
• MekinianAStirnemannJBelmatougNFerritinemia during type 1 Gaucher disease: mechanisms and progression under treatmentBlood Cells Mol Dis2012491535722560483
   PubMed Web of Science ®Google Scholar
• VairoFSperb-LudwigFWilkeMOsteopontin: a potential biomarker of Gaucher diseaseAnn Hematol20159471119112525875742
   PubMed Web of Science ®Google Scholar
• GiraldoPPérez-LópezJNúñezRPatients with type 1 Gaucher disease in Spain: a cross-sectional evaluation of health statusBlood Cells Mol Dis2016561233026603719
   PubMed Web of Science ®Google Scholar