Genetic predisposition to fracture non-union: A case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway

BMC Musculoskeletal Disorders

Volumn 12, Issue , 2011, Pages

  Dimitriou, Rozalia ^a   Carr, Ian M ^b   West, Robert M ^c   Markham, Alexander F ^b   Giannoudis, Peter V ^a  

^a LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

^c UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; NOGGIN; NONSTEROID ANTIINFLAMMATORY AGENT; OSTEOGENIC PROTEIN 1; SMAD6 PROTEIN; BMP2 PROTEIN, HUMAN; BONE MORPHOGENETIC PROTEIN; CARRIER PROTEIN; NOGGIN PROTEIN; SMAD6 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; CASE CONTROL STUDY; COMMINUTED FRACTURE; DRUG USE; FEMALE; FEMUR FRACTURE; FRACTURE HEALING; FRACTURE NONUNION; GENDER; GENETIC PREDISPOSITION; GENOTYPE; HUMAN; HUMERUS FRACTURE; MAJOR CLINICAL STUDY; MALE; PILOT STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING HABIT; TIBIA FRACTURE; TRAFFIC ACCIDENT; ULNA FRACTURE; GENETICS; MIDDLE AGED; RISK FACTOR; SIGNAL TRANSDUCTION;

ADULT; AGED; BONE MORPHOGENETIC PROTEIN 2; BONE MORPHOGENETIC PROTEIN 7; BONE MORPHOGENETIC PROTEINS; CARRIER PROTEINS; CASE-CONTROL STUDIES; FEMALE; FRACTURES, UNUNITED; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PILOT PROJECTS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; SIGNAL TRANSDUCTION; SMAD6 PROTEIN;

EID: 79751534621     PISSN: None     EISSN: 14712474     Source Type: Journal    
DOI: 10.1186/1471-2474-12-44     Document Type: Article

References (42)

1. From Musculoskeletal injuries. A Praemer S Furner DP Rice, American Academy of Orthopaedic Surgeons. Musculoskeletal conditions in the United States Park Ridge, IL, USA 1992 85 124
2. From Nonunions: evaluation and treatment. MR Brinker, Skeletal Trauma Basic science management and reconstruction Philadelphia: Saunders, Browner BD, Jupiter JB, Levine AM, Trafton PG, 3 2003 507 604
3. Nonunion of the femoral diaphysis. The influence of reaming and non-steroidal anti-inflammatory drugs. PV Giannoudis DA MacDonald SJ Matthews RM Smith AJ Furlong P De Boer, J Bone Joint Surg Br 2000 82 5 655 658 10.1302/0301-620X.82B5.9899 10963160
4. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. AP Cuthbert SA Fisher MM Mirza K King J Hampe PJ Croucher S Mascheretti J Sanderson A Forbes J Mansfield S Schreiber CM Lewis CG Mathew, Gastroenterology 2002 122 4 867 874 10.1053/gast.2002.32415 11910337 (Pubitemid 34267268)
5. The T-786 - > C mutation in endothelial nitric oxide synthase is associated with hypertension. ME Hyndman HG Parsons S Verma PJ Bridge S Edworthy C Jones E Lonn F Charbonneau TJ Anderson, Hypertension 2002 39 4 919 922 10.1161/01.HYP.0000013703.07316.7F 11967250 (Pubitemid 34437550)
6. Diagnosis of polymorphisms in carcinogen-activating and inactivating enzymes and cancer susceptibility - a review. H Raunio K Husgafvel-Pursiainen S Anttila E Hietanen A Hirvonen O Pelkonen, Gene 1995 159 1 113 121 10.1016/0378-1119(94)00448-2 7607565
7. Genetics of osteoporosis. SH Ralston, Proc Nutr Soc 2007 66 2 158 165 10.1017/S002966510700540X 17466098
8. Molecular and cellular mechanisms of altered GAD1/GAD67 expression in schizophrenia and related disorders. S Akbarian HS Huang, Brain Res Rev 2006 52 2 293 304 10.1016/j.brainresrev.2006.04.001 16759710 (Pubitemid 44291805)
9. DNA variations in human and medical genetics: 25 years of my experience. Y Nakamura, J Hum Genet 2009 54 1 1 8 10.1038/jhg.2008.6 19158818
10. Current concepts of molecular aspects of bone healing. R Dimitriou E Tsiridis PV Giannoudis, Injury 2005 36 12 1392 1404 10.1016/j.injury.2005.07.019 16102764 (Pubitemid 41618169)
11. Bone morphogenetic proteins and their antagonists. E Gazzerro E Canalis, Rev Endocr Metab Disord 2006 7 1-2 51 65 10.1007/s11154-006-9000-6 17029022 (Pubitemid 46044349)
12. Bone morphogenetic protein receptors. H Yamashita P Ten Dijke CH Heldin K Miyazono, Bone 1996 19 569 574 10.1016/S8756-3282(96)00259-1 8968021 (Pubitemid 27035834)
13. Signal transduction by bone morphogenetic protein receptors: functional roles of Smad proteins. K Miyazono, Bone 1999 25 91 93 10.1016/S8756-3282(99) 00113-1 10423029 (Pubitemid 29322068)
14. The role of inhibitory molecules in fracture healing. R Dimitriou E Tsiridis I Carr H Simpson PV Giannoudis, Injury 2006 37 Suppl 1 20 29 10.1016/j.injury.2006.02.039 16259986
15. Essential requirement of BMPs-2/4 for both osteoblast and osteoclast formation in murine bone marrow cultures from adult mice: antagonism by noggin. E Abe M Yamamoto Y Taguchi B Lecka-Czernik CA O'Brien AN Economides N Stahl RL Jilka SC Manolagas, J Bone Miner Res 2000 15 4 663 673 10.1359/jbmr.2000.15.4. 663 10780858 (Pubitemid 30174020)
16. Mice deficient for BMP2 are nonviable and have defects in amnion/chorion and cardiac development. H Zhang A Bradley, Development 1996 122 2977 2986 8898212 (Pubitemid 26371964)
17. BMP2 activity, although dispensable for bone formation, is required for the initiation of fracture healing. K Tsuji A Bandyopadhyay BD Harfe K Cox S Kakar L Gerstenfeld T Einhorn CJ Tabin V Rosen, Nat Genet 2006 38 12 1424 1429 10.1038/ng1916 17099713 (Pubitemid 44837565)
18. BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning. G Luo C Hofmann AL Bronckers M Sohocki A Bradley G Karsenty, Genes Dev 1995 9 22 2808 2820 10.1101/gad.9.22.2808 7590255
19. BMP7 null mutation in mice: developmental defects in skeleton, kidney, and eye. N Jena C Martín-Seisdedos P McCue CM Croce, Exp Cell Res 1997 230 1 28 37 10.1006/excr.1996.3411 9013703 (Pubitemid 27187536)
20. Chondrogenic differentiation of bovine synovium: bone morphogenetic proteins 2 and 7 and transforming growth factor beta1 induce the formation of different types of cartilaginous tissue. N Shintani EB Hunziker, Arthritis Rheum 2007 56 6 1869 1879 10.1002/art.22701 17530715 (Pubitemid 47110386)
21. Skeletal overexpression of noggin results in osteopenia and reduced Bone formation. RD Devlin Z Du RC Pereira RB Kimble AN Economides V Jorgetti E Canalis, Endocrinology 2003 144 5 1972 1978 10.1210/en.2002-220918 12697704 (Pubitemid 36543336)
22. Impaired osteoblastic differentiation, reduced bone formation, and severe osteoporosis in noggin-overexpressing mice. XB Wu Y Li A Schneider W Yu G Rajendren J Iqbal M Yamamoto M Alam LJ Brunet HC Blair M Zaidi E Abe, J Clin Invest 2003 112 6 924 934 12975477 (Pubitemid 38063750)
23. The Bone morphogenetic proteins antagonist noggin inhibits membranous ossification. P Aspenberg C Jeppsson AN Economides, J Bone Miner Res 2001 16 3 497 500 10.1359/jbmr.2001.16.3.497 11277267 (Pubitemid 32173364)
24. Smad6/Smurf1 overexpression in cartilage delays chondrocytes hypertrophy and causes dwarfism with osteopenia. M Horiki T Imamura M Okamoto M Hayashi J Murai A Myoui T Ochi K Miyazono H Yoshikawa N Tsumaki, J Cell Biol 2004 165 433 445 10.1083/jcb.200311015 15123739 (Pubitemid 38649917)
25. Logistic regression protects against population structure in genetic association studies. E Setakis H Stirnadel DJ Balding, Genome Res 2006 169 2 290 226
26. Statistics notes. The odds ratio. JM Bland DG Altman, BMJ 2000 320 7247 1468 10.1136/bmj.320.7247.1468 10827061 (Pubitemid 30311684)
27. Comparison of fracture healing among different inbred mouse strains. MB Manigrasso JP O'Connor, Calcif Tissue Int 2008 82 6 465 474 10.1007/s00223-008- 9144-3 18528610
28. Genetic randomization reveals functional relationships among morphologic and tissue-quality traits that contribute to bone strength and fragility. KJ Jepsen B Hu SM Tommasini HW Courtland C Price CJ Terranova JH Nadeau, Mamm Genome 2007 18 6-7 492 507 10.1007/s00335-007-9017-5 17557179 (Pubitemid 47360414)
29. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. ME Dixon P Armstrong DB Stevens M Bamshad, Genet Med 2001 3 5 349 353 10.1097/00125817-200109000-00004 11545688
30. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. K Lehmann P Seemann F Silan TO Goecke S Irgang KW Kjaer S Kjaergaard MJ Mahoney S Morlot C Reissner B Kerr AO Wilkie S Mundlos, Am J Hum Genet 2007 81 2 388 396 10.1086/519697 17668388 (Pubitemid 47236086)
31. Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. O Sémonin K Fontaine C Daviaud C Ayuso G Lucotte, Am J Med Genet 2001 102 4 314 317 11503156 (Pubitemid 32778014)
32. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressive. EM Shore M Xu GJ Feldman DA Fenstermacher TJ Cho IH Choi JM Connor P Delai DL Glaser M LeMerrer R Morhart JG Rogers R Smith JT Triffitt JA Urtizberea M Zasloff MA Brown FS Kaplan, Nat Genet 2006 38 5 525 527 10.1038/ng1783 16642017
33. Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. LJ Brunet JA McMahon AP McMahon RM Harland, Science 1998 280 5368 1455 1457 10.1126/science.280.5368.1455 9603738 (Pubitemid 28264842)
34. Autogenous regulation of a network of bone morphogenetic proteins (BMPs) mediates the osteogenic differentiation in murine marrow stromal cells. CM Edgar V Chakravarthy G Barnes S Kakar LC Gerstenfeld TA Einhorn, Bone 2007 40 5 1389 1398 10.1016/j.bone.2007.01.001 17303481 (Pubitemid 46550983)
35. Colocalization of noggin and bone morphogenetic protein-4 during fracture healing. Y Yoshimura S Nomura S Kawasaki T Tsutsumimoto T Shimizu K Takaoka, J Bone Miner Res 2001 16 5 876 884 10.1359/jbmr.2001.16.5.876 11341332 (Pubitemid 32332297)
36. Bone mass effects of a Smad6 gene polymorphism in Japanese postmenopausal women. T Urano M Shiraki T Usui N Sasaki Y Ouchi S Inoue, J Bone Miner Metab 2009 27 5 562 566 10.1007/s00774-009-0068-4 19277452
37. Maintenance of osteoblastic and adipocytic differentiation potential with age and osteoporosis in human marrow stromal cell cultures. J Justesen K Stenderup EF Eriksen M Kassem, Calcif Tissue Int 2001 71 1 36 44 10.1007/s00223-001-2059-x
38. Gene expression analysis of major lineage-defining factors in human bone marrow cells: Effect of aging, gender, and age-related disorders. Y Jiang H Mishima S Sakai YK Liu Y Ohyabu T Uemura, J Orthop Res 2008 26 7 910 917 10.1002/jor.20623 18302252
39. Common genetic variation in GATA-binding protein 3 and differential susceptibility to breast cancer by estrogen receptor alpha tumor status. M Garcia-Closas MA Troester Y Qi A Langerød M Yeager J Lissowska L Brinton R Welch B Peplonska DS Gerhard IT Gram V Kristensen AL Børresen-Dale S Chanock CM Perou, Cancer Epidemiol Biomarkers Prev 2007 16 11 2269 2275 10.1158/1055-9965.EPI-07-0449 18006915 (Pubitemid 351196359)
40. Heterozygosity of SNP513 in intron 9 of the human calretinin gene (CALB2) is a risk factor for colon cancer. S Vonlanthen TJ Kawecki DC Betticher M Pfefferli B Schwaller, Anticancer Res 2007 27 6C 4279 4288 18214032
41. Recombinant human bone morphogenetic protein-2 for treatment of open tibial fractures: a prospective, controlled, randomized study of four hundred and fifty patients. S Govender C Csimma HK Genant A Valentin-Opran Y Amit R Arbel H Aro D Atar M Bishay MG Börner P Chiron P Choong J Cinats B Courtenay R Feibel B Geulette C Gravel N Haas M Raschke E Hammacher D van der Velde P Hardy M Holt C Josten RL Ketterl B Lindeque G Lob H Mathevon G McCoy D Marsh R Miller E Munting S Oevre L Nordsletten A Patel A Pohl W Rennie P Reynders PM Rommens J Rondia WC Rossouw PJ Daneel S Ruff A Rüter S Santavirta TA Schildhauer C Gekle R Schnettler D Segal H Seiler RB Snowdowne J Stapert G Taglang R Verdonk L Vogels A Weckbach A Wentzensen T Wisniewski BMP-2 Evaluation in Surgery for Tibial Trauma (BESTT) Study Group, J Bone Joint Surg Am 2002 84 12 2123 2134 12473698 (Pubitemid 35417689)
42. Osteogenic protein-1 (bone morphogenetic protein-7) in the treatment of tibial nonunions. GE Friedlaender CR Perry JD Cole SD Cook G Cierny GF Muschler GA Zych JH Calhoun AJ LaForte S Yin, J Bone Joint Surg Am 2001 83 Suppl A 151 158 11712836