The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese han population

Spine

Volumn 35, Issue 9, 2010, Pages 983-988

  Fei, Qi ^a   Wu, Zhihong ^b   Wang, Hai ^b   Zhou, Xi ^b   Wang, Naiguo ^b   Ding, Yaozhong ^c   Wang, Yipeng ^b   Qiu, Guixing ^b  

^a CAPITAL MEDICAL UNIVERSITY   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital scoliosis; Genetic association; Haplotype; Single nucleotide polymorphism; Somite; TBX6

Indexed keywords

T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBX6; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADOLESCENT; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; DISEASE PREDISPOSITION; EXON; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHILD; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; REGRESSION ANALYSIS; SCOLIOSIS; T-BOX DOMAIN PROTEINS;

EID: 77951766042     PISSN: 03622436     EISSN: 15281159     Source Type: Journal    
DOI: 10.1097/BRS.0b013e3181bc963c     Document Type: Article

References (28)

1. McMaster MJ. Congenital scoliosis caused by a unilateral failure of vertebral segmentation with contralateral hemivertebrae. Spine 1998;23:998-1005.
2. Pourquie O, Kusumi K. When body segmentation goes wrong. Clin Genet 2001;60:409-416
3. Shands AR, Eisberg HB. The incidence of scoliosis in the state of Delaware. A study of 50,000 minifilms of the chest made during a survey for tuberculosis. J Bone Joint Surg Am 1955;37A:1243-1249
4. Giampietro PF, Blank RD, Raggio CL, et al. Congenital and idiopathic scoliosis: clinical and genetic aspects. Clin Med Res 2003;1:125-136
5. Purkiss SB, Driscoll B, Cole WG, et al. Idiopathic scoliosis in families of children with congenital scoliosis. Clin Orthop Relat Res 2002;401:27-31.
6. Shahcheraghi GH, Hobbi MH. Patterns and progression in congenital scoliosis. J Pediatr Orthop 1999;19:766-775
7. Wynne-Davies R. Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica. J Med Genet 1975;12:280-288
8. Temple IK, Thomas TG, Baraitser M. Congenital spinal deformity in a threegeneration family. J Med Genet 1988;25:831-834
9. Riccardi VM. Trisomy 8: an international study of 70 patients. Birth Defects Orig Artic Ser 1977;13:171-184
10. De Grouchy J, Mlynarski JC, Maroteaux P, et al. Syndrome polydysspondylique par translocation 14-15 et dyschondroste'ose chez un mem̂e sujet se'gre'gation familiale. C R Acad Sci D Paris 1963;256:1614-1616
11. Dowton SB, Hing AV, Sheen-Kaniecki V, et al. Chromosome 18q22.2-qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects. J Med Genet 1997;34:414-417
12. Nakano S, Okuno T, Hojo H, et al. 18p-syndrome associated with hemivertebrae, fused ribs and micropenis. Jpn J Hum Genet 1977;22:27-32.
13. Giampietro PF, Raggio CL, Reynolds CE, et al. An analysis of PAX1 in the development of vertebral malformations. Clin Genet 2005;68:448-453
14. Giampietro PF, Raggio CL, Reynolds C, et al. DLL3 as a candidate gene for vertebral malformations. Am J Med Genet A 2006;140:2447-2453
15. Erol B, Tracy MR, Dormans JP, et al. Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis. J Pediatr Orthop 2004;24:674-682
16. Maisenbacher MK, Han JS, O'Brien ML, et al. Molecular analysis of congenital scoliosis: a candidate gene approach. Hum Genet 2005;116:416-9.
17. Ming JE, Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet 2002;71: 1017-1032
18. Brand-Saberi B, Christ B. Evolution and development of distinct cell lineages derived from somites. Curr Top Dev Biol 2000;48:1-42.
19. Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 2000;24:438-441
20. Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand for Notch 1. Nat Genet 1997;16: 243-251
21. Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human Jagged 1 gene are responsible for Alagille syndrome. Nat Genet 1997;16:235-242
22. Hitachi K, Kondow A, Danno H, et al. Tbx6, Thylacine1, and E47 synergistically activate bowline expression in Xenopus somitogenesis. Dev Biol 2008;313:816-828
23. Chapman DL, Papaioannou VE. Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6. Nature 1998;391:695-697
24. White PH, Farkas DR, McFadden EE, et al. Defective somite patterning in mouse embryos with reduced levels of Tbx6. Development 2003;130: 1681-1690
25. Hedequist D, Emans J. Congenital scoliosis. J Am Acad Orthop Surg 2004; 12:266-275
26. Bell PA, Chaturvedi S, Gelfand CA, et al. SNPstream UHT: ultra-high throughput SNP genotyping for pharmacogenomics and drug discovery. Biotechniques 2002;32:70-77
27. Nielsen DM, Ehm MG, Weir BS. Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am J Hum Genet 1998;63:1531-1540
28. Yuan HY, Chiou JJ, Tseng WH, et al. FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res 2006;34:W635-41.