SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

Neurology

Volumn 76, Issue 3, 2011, Pages 219-226

  Pegoraro, E ^a   Hoffman, E P ^e   Piva, L ^a   Gavassini, B F ^a   Cagnin, S ^b,c,d   Ermani, M ^a   Bello, L ^a   Soraru, G ^a   Pacchioni, B ^b,c,d   Bonifati, M D ^a   Lanfranchi, G ^b,c   Angelini, C ^a   Kesari, A ^e   Lee, I ^e   Gordish Dressman, H ^e   Devaney, J M ^e   McDonald, C M ^e  

^a Neuromuscular Center   (Italy)

^b CRIBI Biotechnology Centre   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOCORTICOID; MESSENGER RNA; OSTEOPONTIN;

ALLELE; ARTICLE; CHILD; CLINICAL TRIAL; COHORT ANALYSIS; COOPERATIVE INTERNATIONAL NEUROMUSCULAR RESEARCH GROUP; CROSS-SECTIONAL STUDY; DISEASE COURSE; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GRIP STRENGTH; HUMAN; LOG RANK TEST; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MEDICAL SOCIETY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE; VALIDATION STUDY;

CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; DISEASE PROGRESSION; FEMALE; GENOTYPE; GLUCOCORTICOIDS; HUMANS; INTERNATIONAL COOPERATION; ITALY; KAPLAN-MEIER ESTIMATE; MALE; MUSCULAR DYSTROPHY, DUCHENNE; ODDS RATIO; OSTEOPONTIN; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDICTIVE VALUE OF TESTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEVERITY OF ILLNESS INDEX;

EID: 78751634526     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318207afeb     Document Type: Article

References (32)

1. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-928.
2. Bushby K, Muntoni F, Urtizberea A, et al. Report on the 124th ENMC International Workshop: treatment of Duchenne muscular dystrophy: defining the gold standards of management in the use of corticosteroids. Neuro-muscul Disord 2004;14:526-534.
3. Moxley RT, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy. Neurology 2005;64:13-20.
4. Desguerre I, Christov C, Mayer M, et al. Clinical heterogeneity of Duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLOS One 2009;4:e4347.
5. Mayhew JE, Florence JM, Mayhew TP, et al. Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy. Muscle Nerve 2007;35: 36-42.
6. Saeed AI, Sharov V, White J, et al. TM4: a free, open-source system for microarray data management and analysis. Biotechniques 2003;34:374-378.
7. Eisen MB, Spellman PT, Brown PO, Botstein D. Cluster analysis and display of genome-wide expression patterns. Proc Natl Acad Sci USA 1998;95:14863-1468.
8. Fellenberg K, Hauser NC, Brors B, et al. Correspondence analysis applied to microarray data. Proc Natl Acad Sci USA 2001;98:10781-1086.
9. Tusher VG, Tibshirani R, Chu G. Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci USA 2001;98:5116-512.
10. Clarkson PM, Hoffman EP, Zambraski E, et al. ACTN3 and MLCK genotype associations with exertional muscle damage. J Appl Physiol 2005;99:564-569.
11. Thompson PD, Moyna N, Seip R, et al. Functional polymorphisms associated with human muscle size and strength. Med Sci Sports Exerc 2004;36:1132-1139.
12. Yang N, MacArthur DG, Gulbin JP, et al. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 2003;73:627-631.
13. Walsh S, Liu D, Metter EJ, et al. ACTN3 genotype is associated with muscle phenotypes in women across the adult age span. J Appl Physiol 2008;105:1486-1491.
14. Chen YW, Nagaraju K, Bakay M, et al. Early onset of inflammation and later involvement of TGFbeta in Duch-enne muscular dystrophy. Neurology 2005;65:826-834.
15. Wehling-Henricks M, Oltmann M, Rinaldi C, et al. Loss of positive allosteric interactions between neuronal nitric oxide synthase and phosphofructokinase contribute to defects in glycolysis and increased fatigability in muscular dystrophy. Hum Mol Genet 2009;18:3439-3451.
16. Onopiuk M, Brutkowski W, Wierzbicka K, et al. Mutation in dystrophin-encoding gene affects energy metabolism in mouse myoblasts. Biochem Biophys Res Commun 2009;386:463-466.
17. Hsieh TJ, Jaw TS, Chuang HY, et al. Muscle metabolism in Duchenne muscular dystrophy assessed by in vivo proton magnetic resonance spectroscopy. J Comput Assist To-mogr 2009;33:150-154.
18. Vetrone SA, Montecino-Rodriguez E, Kudryashova E, et al. Osteopontin promotes fibrosis in dystrophic mouse muscle by modulating immune cell subsets and intramuscular TGF-/3. J Clin Invest 2009;119:1583-1594.
19. De las Fuentes L, Gu CC, Mathews SJ, et al. Osteopontin promoter polymorphism is associated with increased carotid intima-media thickness. J Am Soc Echocardiogr 2008; 21: 954-960.
20. Marciano R, D'Annunzio G, Minuto N, et al. Association of alleles at polymorphic sites in the Osteopontin encoding gene in young type 1 diabetic patients. Clin Immunol 2009;131:84-91.
21. Kathiresan S, Melander O, Guiducci C, et al. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans [erratum 2008;40:1384]. Nat Genet 2008;40:189-197.
22. Sandhu MS, Waterworth DM, Debenham SL, et al. LDL-cholesterol concentrations: a genome-wide association study. Lancet 2008;371:483-491.
23. Giacopelli F, Marciano R, Pistorio A, et al. Polymorphisms in the osteopontin promoter affect its transcriptional activity. Physiol Genomics 2004;20:87-96.
24. Fedarko NS, Jain A, Karadag A, et al. Elevated serum bone sialoprotein and osteopontin in colon, breast and prostate, and lung cancer. Clin Cancer Res 2001;40:4060-4066.
25. Scatena M, Liaw L, Giachelli CM. Osteopontin: a multifunctional molecule regulating chronic inflammation and vascular disease. Arterioscl Thromb Vasc Biol 2007;27: 2302-2309.
26. Golledge J, Muller J, Shephard N, et al. Association between osteopontin and human abdominal aortic aneurysm. Arterioscler Thromb Vasc Biol 2007;27:655-660.
27. Collaco JM, Cutting GR. Update on gene modifiers in cystic fibrosis. Curr Opin Pulm Med 2008;14:559-566.
28. Chen YW, Zhao P, Borup R, Hoffman EP. Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology. J Cell Biol 2000;151:1321-1336.
29. Porter JD, Khanna S, Kaminski HJ, et al. A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice. Hum Mol Genet 2002;11:263-272.
30. Turk R, Sterrenburg E, van der Wees CG, et al. Common pathological mechanisms in mouse models for muscular dystrophies. FASEB J 2006;20:127-129.
31. Marhaug G, Shah V, Shroff R, et al. Age-dependent inhibition of ectopic calcification: a possible role for fetuin-A and osteopontin in patients with juvenile der-matomyositis with calcinosis. Rheumatology 2008; 47: 1031-1037.
32. Uaesoontrachoon K, Yoo HJ, Tudor EM, et al. Osteopon-tin and skeletal muscle myoblasts: Association with muscle regeneration and regulation of myoblast function in vitro. Int J Biochem Cell Biol 2008;40:2303-2314.