Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease

Clinical Rheumatology

Volumn 29, Issue 9, 2010, Pages 1037-1041

  Greenwood, Allen ^a   Elstein, Deborah ^a   Zimran, Ari ^a   Altarescu, Gheona ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

Bone mineral density; Enzyme replacement therapy; Femoral neck; Gaucher disease; Lumbar spine; Vitamin D receptor

Indexed keywords

VITAMIN D RECEPTOR;

ADULT; ARTICLE; BONE DENSITY; CONTROLLED STUDY; DNA POLYMORPHISM; FEMUR NECK; GAUCHER DISEASE; GENOTYPE; HUMAN; LUMBAR SPINE; MAJOR CLINICAL STUDY; OSTEOPOROSIS; PRIORITY JOURNAL; RISK ASSESSMENT;

ADULT; BONE DENSITY; CASE-CONTROL STUDIES; FEMUR NECK; GAUCHER DISEASE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; JEWS; LUMBAR VERTEBRAE; OSTEOPOROSIS; POLYMORPHISM, GENETIC; RECEPTORS, CALCITRIOL; RISK FACTORS;

EID: 77956188201     PISSN: 07703198     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10067-010-1464-9     Document Type: Article

References (29)

1. Beutler E, Grabowski GA (2001) Gaucher disease. In: Scriver CR, Valle D, Beudet A, Sly WS (eds) The metabolic and molecular bases of inherited diseases, vol III. McGraw-Hill, New York, pp 3635-3668
2. D Elstein M Itzchaki HJ Mankin 1997 Skeletal involvement in Gaucher disease Clin Haematol 10 793 816 1:STN:280:DyaK1c7lvFejsg%3D%3D
3. GM Pastores TA Einhorn 1995 Skeletal complications of Gaucher disease: pathophysiology, evaluation and treatment Semin Hematol 32 20 27
4. NW Barton RO Brady JM Dambrosia AM Di Bisceglie SH Doppelt SC Hill HJ Mankin GJ Murray RI Parker CE Argoff, et al. 1991 Replacement therapy for inherited enzyme deficiency: macrophage-targeted glucocerebrosidase for Gaucher's disease N Engl J Med 324 1464 1470 1:STN:280:DyaK3M3hvVyitg%3D%3D 2023606
5. GM Pastores S Wallenstein RJ Desnick MM Luckey 1996 Bone density in type I Gaucher disease J Bone Min Res 11 1801 1807 10.1002/jbmr.5650111125 1:STN:280:DyaK2s%2FntlSnsw%3D%3D
6. G Ciana R Addobbati G Tamaro A Leopaldi M Nevyjel L Ronfani L Vidoni MG Pittis B Bembi 2005 Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy J Inherit Metab Dis 28 5 723 732 10.1007/s10545-005-0032-y 1:CAS:528:DC%2BD2MXpvVWqu74%3D 16151904
7. KB Sims GM Pastores NJ Weinreb J Barranger BE Rosenbloom S Packman P Kaplan H Mankin R Xavier J Angell MA Fitzpatrick D Rosenthal 2008 Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study Clin Genet 73 5 430 440 10.1111/j.1399-0004.2008.00978.x 1:STN:280:DC%2BD1c3jvFCmsw%3D%3D 18312448
8. MS Parisi SR Mastaglia A Bagur G Goldstein SN Zeni B Oliveri 2008 Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase Eur J Med Res 13 1 31 38 1:CAS:528:DC%2BD1cXkt1yjtLo%3D 18226995
9. DL Koller MJ Econs PA Morin JC Christian SL Hui P Parry ME Curran LA Rodriguez PM Conneally G Joslyn M Peacock CC Johnston T Foroud 2000 Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis J Clin Endocrinol Metab 85 9 3116 3120 10.1210/jc.85.9.3116 1:CAS:528:DC%2BD3cXmsVKru7o%3D 10999795
10. SL Ferrari R Rizzoli 2005 Gene variants for osteoporosis and their pleiotropic effects in aging Mol Aspects Med 26 3 145 167 10.1016/j.mam.2005.01. 002 1:CAS:528:DC%2BD2MXjtlWjsL0%3D 15811432
11. JM Valdivielso E Fernandez 2006 Vitamin D receptor polymorphisms and diseases Clin Chim Acta 371 1 12 10.1016/j.cca.2006.02.016 1:CAS:528: DC%2BD28XotFKit7s%3D 16563362
12. D Alvarez-Hernandez M Naves-Diaz C Gomez-Alonso E Coto JB Cannata-Andia 2008 Tissue-specific effect of VDR gene polymorphisms on the response to calcitriol J Nephrol 21 6 843 849 1:CAS:528:DC%2BD1MXisFCjs7g%3D 19034868
13. A Thakkinstian C D'Este J Eisman T Nguyen J Attia 2004 Meta-analysis of molecular association studies: vitamin D receptor gene polymorphisms and BMD as a case study J Bone Miner Res 19 3 419 428 10.1359/JBMR.0301265 1:CAS:528:DC%2BD2cXisFCrsb0%3D 15040830
14. U Dundar M Solak V Kavuncu M Ozdemir T Cakir H Yildiz D Evcik 2009 Evidence of association of Vitamin D receptor Apa I gene polymorphism with bone mineral density in postmenopausal women with osteoporosis Clin Rheumatol 28 10 1187 1191 10.1007/s10067-009-1220-1 19609483
15. W Horst-Sikorska R Kalak A Wawrzyniak M Marcinkowska L Celczynska-Bajew R Slomski 2007 Association analysis of the polymorphisms of the VDR gene with bone mineral density and the occurrence of fractures J Bone Miner Metab 25 5 310 319 10.1007/s00774-007-0769-5 1:CAS:528:DC%2BD2sXpt1Crtbs%3D 17704996
16. T Remes SB Vaisanen A Mahonen J Huuskonen H Kroger JS Jurvelin R Rauramaa 2005 Bone mineral density, body height, and vitamin D receptor gene polymorphism in middle-aged men Ann Med 37 5 383 392 10.1080/07853890510011958 1:CAS:528:DC%2BD2MXhtV2gsLrK 16179274
17. S Mencej-Bedrac J Prezelj T Kocjan K Teskac B Ostanek M Smelcer J Marc 2009 The combinations of polymorphisms in vitamin D receptor, osteoprotegerin and tumour necrosis factor superfamily member 11 genes are associated with bone mineral density J Mol Endocrinol 42 3 239 247 10.1677/JME-08-0108 1:CAS:528:DC%2BD1MXltFSjs74%3D 19131500
18. E Arnheim G Chicco M Phillips E Lebel AJ Foldes M Itzchaki D Elstein A Zimran G Altarescu 2008 Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density Rheumatol Int 28 9 873 877 10.1007/s00296-008-0550-7 18317771
19. E Grundberg EM Lau T Pastinen A Kindmark O Nilsson O Ljunggren D Mellström E Orwoll I Redlund-Johnell A Holmberg S Gurd PC Leung T Kwok C Ohlsson H Mallmin H Brändström 2007 Vitamin D receptor 3′ haplotypes are unequally expressed in primary human bone cells and associated with increased fracture risk: the MrOS Study in Sweden and Hong Kong J Bone Miner Res 22 6 832 840 10.1359/jbmr.070317 1:CAS:528:DC%2BD2sXpt12jsbc%3D 17371163
20. A Zimran J Sorge E Gross M Kubitz C West E Beutler 1989 Prediction of severity of Gaucher's disease by identification of mutations at DNA level Lancet 2 349 352 10.1016/S0140-6736(89)90536-9 1:STN:280:DyaL1MzktlentA%3D%3D 2569551
21. C Cooper N Harvey K Javaid M Hanson E Dennison 2008 Growth and bone development Nestle Nutr Workshop Ser Pediatr Program 61 53 68 10.1159/000113170 18196944
22. M Eckstein I Vered S Ish-Shalom AB Shlomo A Shtriker N Koren-Morag E Friedman 2002 Vitamin D and calcium-sensing receptor genotypes in men and premenopausal women with low bone mineral density Isr Med Assoc J 4 5 340 344 1:CAS:528:DC%2BD38XktlSjs7o%3D 12040821
23. R Dresner-Pollak Z Ackerman R Eliakim A Karban Y Chowers HH Fidder 2004 The BsmI vitamin D receptor gene polymorphism is associated with ulcerative colitis in Jewish Ashkenazi patients Genet Test 8 4 417 420 10.1089/gte.2004.8. 417 1:CAS:528:DC%2BD2MXht1Kjsbg%3D 15684874
24. AG Uitterlinden SH Ralston ML Brandi AH Carey D Grinberg BL Langdahl P Lips R Lorenc B Obermayer-Pietsch J Reeve DM Reid A Amedei A Bassiti M Bustamante LB Husted A Diez-Perez H Dobnig AM Dunning A Enjuanes A Fahrleitner-Pammer Y Fang E Karczmarewicz M Kruk JP van Leeuwen C Mavilia JB van Meurs J Mangion FE McGuigan HA Pols W Renner F Rivadeneira NM van Schoor S Scollen RE Sherlock JP Ioannidis APOSS Investigators; EPOS Investigators; EPOLOS Investigators; FAMOS Investigators; LASA Investigators; Rotterdam Study Investigators; GENOMOS Study 2006 The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis Ann Intern Med 145 4 255 264 1:CAS:528:DC%2BD28XpsFejtbs%3D 16908916
25. BL Langdahl CH Gravholt K Brixen EF Eriksen 2000 Polymorphisms in the vitamin D receptor gene and bone mass, bone turnover and osteoporotic fractures Eur J Clin Invest 30 608 617 10.1046/j.1365-2362.2000.00686.x 1:CAS:528:DC%2BD3cXlsF2jur4%3D 10886301
26. BL Riggs TV Nguyen LJ Melton 3rd NA Morrison WM O'Fallon PJ Kelly KS Egan PN Sambrook JM Muhs JA Eisman 1995 The contribution of vitamin D receptor gene alleles to the determination of bone mineral density in normal and osteoporotic women J Bone Miner Res 10 6 991 996 10.1002/jbmr.5650100622 1:CAS:528: DyaK2MXms1Srt7w%3D 7572325
27. S Mitra M Desai M Ikram Khatkhatay 2006 Vitamin D receptor gene polymorphisms and bone mineral density in postmenopausal Indian women Maturitas 55 1 27 35 10.1016/j.maturitas.2006.01.003 1:CAS:528:DC%2BD28XntlWjsbk%3D 16464547
28. T Remes SB Väisänen A Mahonen J Huuskonen H Kröger JS Jurvelin R Rauramaa 2005 Bone mineral density, body height, and vitamin D receptor gene polymorphism in middle-aged men Ann Med 37 383 392 10.1080/07853890510011958 1:CAS:528:DC%2BD2MXhtV2gsLrK 16179274
29. TV Nguyen LM Esteban CP White SF Grant JR Center EM Gardiner JA Eisman 2005 Contribution of the collagen I alpha1 and vitamin D receptor genes to the risk of hip fracture in elderly women J Clin Endocrinol Metab 90 6575 6579 10.1210/jc.2005-1153 1:CAS:528:DC%2BD2MXhtlaltL3K 16159929