Association of methylenetetrahydrofolate reductase genetic polymorphisms with atlantoaxial dislocation

Journal of Neurosurgery: Spine

Volumn 7, Issue 6, 2007, Pages 623-630

  Pradhan, Mandakini ^a   Behari, Sanjay ^a   Kalra, Samir K ^a   Ojha, Priti ^a   Agarwal, Sarita ^a   Jain, Vijendra K ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Atlantoaxial dislocation; Craniovertebral junction; Methylenetetrahydrofolate reductase; Polymorphism

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ADULT; ARTICLE; ATLANTOAXIAL DISLOCATION; CHI SQUARE TEST; CONFIDENCE INTERVAL; DNA POLYMORPHISM; ETHNICITY; FEMALE; GENE FREQUENCY; GENOTYPE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; RISK;

ADOLESCENT; ADULT; ATLANTO-AXIAL JOINT; CHILD; CHILD, PRESCHOOL; DISLOCATIONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; MOVEMENT; NECK; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES; SPINAL FUSION; TOMOGRAPHY, X-RAY COMPUTED;

EID: 37349039667     PISSN: 15475654     EISSN: None     Source Type: Journal    
DOI: 10.3171/SPI-07/12/623     Document Type: Article

References (43)

1. Bailey LB, Gregory JF III: Polymorphisms of methylenetetrahydrofolate reductase and other enzymes: metabolic significance, risks and impact on folate requirement. J Nutr 129:919-922, 1999
2. Behari S, Bhargava V, Nayak S, Kiran Kumar MV, Banerji D, Chhabra DK, et al: Congenital reducible atlantoaxial dislocation: classification and surgical considerations. Acta Neurochir (Wien) 144:1165-1177, 2002
3. Behari S, Kiran Kumar MV, Banerji D, Chhabra DK, Jain VK: Atlantoaxial dislocation associated with the maldevelopment of the posterior neural arch of axis causing compressive myelopathy. Neurol India 52:465-469, 2004
4. Bhagwati SN: Congenital atlantoaxial dislocation. A study of 99 cases. Neurol India 38:317-324, 1990
5. Bharucha EP, Dastur HM: Craniovertebral anomalies (a report on 40 cases). Brain 87:469-481, 1964
6. Brooks AL, Jenkins EB: Atlanto-axial arthrodesis by the wedge compression method. J Bone Joint Surg Am 60:279-284, 1978
7. Clarke RA, Kearsley JH, Walsh DA: Patterned expression in familial Klippel-Feil syndrome. Teratology 53:152-157, 1996
8. Clarke RA, Singh S, McKenzie H, Kearsley JH, Yip MY: Familial Klippel-Feil syndrome and paracentric inversion inv(8) (q22.2q23.3). Am J Hum Genet 57:1364-1370, 1995
9. Crockard HA, Calder I, Ransford AO: One-stage transoral decompression and posterior fixation in rheumatoid atlanto-axial subluxation. J Bone Joint Surg Br 72:682-685, 1990
10. Crockard HA, Stevens JM: Craniovertebral junction anomalies in inherited disorders: part of the syndrome or caused by the disorder? Eur J Pediatr 154:504-512, 1995
11. Dalal A, Pradhan M, Tiwari D, Behari S, Singh U, Mallik GK, et al: MTHFR 677C→T and 1298A→C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect. Gynecol Obstet Invest 63:146-150, 2007
12. David KM, Thorogood PV, Stevens JM, Crockard HA: The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology. Neurosurg Focus 6(6):E1, 1999
13. De Marco P, Moroni A, Merello E, de Franchis R, Andreussi L, Finnell RH, et al: Folate pathway gene alterations in patients with neural tube defects. Am J Med Genet 95:216-223, 2000
14. Devi KR, Govindaiath V, Ramakrishna G, Naushad SM: Prevalence of methylenetetrahydrofolate reductase polymorphism in South Indian population. Curr Sci 83:3-6, 2004
15. Fodinger M, Horl WH, Sunder-Plassmann G: Molecular biology of 5,10-methylenetetrahydrofolate reductase. J Nephrol 13:20-33, 2000
16. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al: A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113, 1995
17. Gos M Jr, Szpecht-Potocka A: Genetic basis of neural tube defects. II. Genes correlated with folate and methionine metabolism. J Appl Genet 43:511-524, 2002
18. Greenberg AD, Scoville WB, Davey LM: Transoral decompression of atlanto-axial dislocation due to odontoid hypoplasia. Report of two cases. J Neurosurg 28:266-269, 1968
19. Gunderson CH, Greenspan RH, Glaser GH, Lubs HA: The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine (Baltimore) 46:491-512, 1967
20. Harmon DL, Shields DC, Woodside JV, McMaster D, Yarnell JW, Young IS, et al: Methionine synthase D919G polymorphism is a significant but modest determinant of circulating homocysteine concentrations. Genet Epidemiol 17:298-309, 1999
21. Jain VK, Behari S: Congenital atlanto-axial dislocation: some lessons learnt. Neurol India 50:386-397, 2002
22. Jain VK, Behari S: Posterior occipitoaxial fusion for atlantoaxial dislocation associated with occipitalized atlas, in Wilkins R, Rengachary S (eds): Neurosurgical Operative Atlas, Vol 7. Rolling Meadows, IL: AANS, 1997, pp 249-256
23. Jain VK, Behari S, Banerji D, Bhargava V, Chhabra DK: Transoral decompression for craniovertebral osseous anomalies: perioperative management dilemmas. Neurol India 47:188-195, 1999
24. Jain VK, Mittal P, Banerji D, Behari S, Acharya R, Chhabra DK: Posterior occipitoaxial fusion for atlantoaxial dislocation associated with occipitalized atlas. J Neurosurg 84:559-564, 1996
25. Károly D, Kasó G, Thorogood PV, Stevens JM, Crockard HA: [Molecular genetic background of developmental bony malformations at the craniocervical junction and cervical spine.] Ideggyogy Sz 55:253-262, 2002 (Hungarian)
26. Locke GR, Gardner JI, Van Epps EF: Atlas-dens interval (ADI) in children: a survey based on 200 normal cervical spines. Am J Roentgenol Radium Ther Nucl Med 97:135-140, 1966
27. López BC, Dávid KM, Crockard HA: Inadequate PAX-1 gene expression as a cause of agenesis of the thoracolumbar spine with failure of segmentation. Case report. J Neurosurg 86:1018-1021, 1997
28. Malcolm GP, Ransford AO, Crockard HA: Treatment of nonrheumatoid occipitocervical instability. Internal fixation with the Hartshill-Ransford loop. J Bone Joint Surg Br 76:357-366, 1994
29. McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M: Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet 11:468-474, 2003
30. Menezes AH: Embryology, development, and classification of disorders of the craniocervical junction, in Dickman CA, Spetzler RF, Sonntag VKH (eds): Surgery of the Craniovertebral Junction. New York: Thieme, 1998, pp 3-12
31. Menezes AH, VanGilder JC, Graf CJ, McDonnell DE: Craniocervical anomalies. A comprehensive surgical approach. J Neurosurg 53:444-455, 1980
32. MRC Vitamin Study Research Group: Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338:131-137, 1991
33. Mukherjee M, Joshi S, Bagadi S, Dalvi M, Rao A, Shetty KR: A low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian Indians. Clin Genet 61:155-159, 2002
34. Pietrzyk JJ, Bik-Multanowski M, Sanak M, Twardowska M: Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida. J Appl Genet 44:111-113, 2003
35. Ramsbottom D, Scott JM, Mollow A, Weir DG, Kirke PN, Mills JL, et al: Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects? Clin Genet 51:39-42, 1997
36. Ransford AO, Crockard HA, Pozo JL, Thomas NP, Nelson IW: Craniocervical instability treated by contoured loop fixation. J Bone Joint Surg Br 68:173-177, 1986
37. Salunke P, Behari S, Kirankumar MV, Sharma MS, Jaiswal AS, Jain VK: Pediatric congenital atlantoaxial dislocation: differences between the irreducible and reducible varieties. J Neurosurg 104 (2 Suppl):115-122, 2006
38. Schilgen M, Loeser H: Klippel-Feil anomaly combined with fetal alcohol syndrome. Eur Spine J 3:289-290, 1994
39. Selhub J, Jacques PF, Wilson PW, Rush D, Rosenberg IH: Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. JAMA 270:2693-2698, 1993
40. van der Put NM, Gabreëls F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, et al: A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects? Am J Hum Genet 62:1044-1062, 1998
41. van der Put NM, van Straaten HW, Trijbels FJ, Blom HJ: Folate, homocysteine and neural tube defects: an overview. Exp Biol Med 226:243-270, 2001
42. Wilcken DE: MTHFR 677C→T mutation, folate intake, neuraltube defect, and risk of cardiovascular disease. Lancet 350:603-604, 1997
43. Wilson A, Platt R, Wu Q, Leclerc D, Christensen B, Yang H, et al: A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12 ) increases risk for spina bifida. Mol Genet Metab 67:317-323, 1999