Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 94, Issue 2, 2012, Pages 84-90

  Aneji, Chiamaka N ^a   Northrup, Hope ^a   Sing Au, Kit ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); DNA;

ARTICLE; CAUCASIAN; EXON; FATHER; FISHER EXACT TEST; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HISPANIC; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; MENINGOMYELOCELE; MOTHER; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RACE DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; BASE SEQUENCE; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MENINGOMYELOCELE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MEXICAN AMERICANS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84856766862     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.22884     Document Type: Article

References (45)

1. Au KS, Ashley-Koch A, Northrup H. 2010. Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev 16: 6-15.
2. Au KS, Tran PX, Tsai CC, et al. 2008. Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals. Birth Defects Res A Clin Mol Teratol 82: 692-700.
3. Bassuk AG, Kibar Z. 2009. Genetic basis of neural tube defects. Semin Pediatr Neurol 16: 101-110.
4. Beaudin AE, Stover PJ. 2007. Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression. Birth Defects Res C Embryo Today 81: 183-203.
5. Blencowe H, Cousens S, Modell B, Lawn J. 2010. Folic acid to reduce neonatal mortality from neural tube disorders. Int J Epidemiol 39( Suppl 1): i110-i121.
6. Botto LD, Moore CA, Khoury MJ, Erickson JD. 1999. Neural-tube defects. New Engl J Med 341: 1509-1519.
7. Botto LD, Yang Q. 2000. 5, 10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151: 862-877.
8. Boulet SL, Yang Q, Mai C, et al.; National Birth Defects Prevention Network. 2008. Trends in the post fortification prevalence of spina bifida and anencephaly in the United States. Birth Defects Res A Clin Mol Teratol 82: 527-532.
9. Buratti E, Chivers M, Kralovicova J, et al. 2007. Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nuclei Acid Res 35: 4250-4263.
10. Centers for Disease Control and Prevention. 1992. Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects. MMWR Recomm Rep 41(RR-14): 1-7.
11. Centers for Disease Control and Prevention. 2004. Spina bifida and anencephaly before and after folic acid mandate-United States, 1995-1996 and 1999-2000. MMWR Recomm Rep 53: 362-365.
12. Centers for Disease Control and Prevention. 2009. Racial/ethnic differences in the birth prevalence of spina bifida-United States, 1995-2005. MMWR Recomm Rep 57: 1409-1413.
13. Copp AJ, Greene ND, Murdoch JN. 2003. The genetic basis of mammalian neurulation. Nat Rev Genet 4: 784-793.
14. Czeizel AE, Dudas I. 1992. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. New Engl J Med 327: 1832-1835.
15. De Marco P, Calevo MG, Moroni A, et al. 2002. Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population. J Hum Genet 47: 319-324.
16. De Marco P, Calevo MG, Moroni A, et al. 2001. Polymorphisms in genes involved in folate metabolism as risk factors for NTDs. Eur J Pediat Surgery 11( Suppl 1): S14-17.
17. Desmet FO, Hamroun D, Lalande M, et al. 2009. Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic Acid Res 37: e67.
18. Gingeras TR. 2009. Implications of chimaeric non-co-linear transcripts. Nature 461: 206-211.
19. Gonzalez-Herrera L, Garcia-Escalante G, Castillo-Zapata I, et al. 2002. Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico. Clin Genet 62: 394-398.
20. Gonzalez-Herrera L, Castillo-Zapata I, Garcia-Escalante G, Pinto-Escalante D. 2007. A1298C polymorphism of the MTHFR gene and neural tube defects in the state of Yucatan, Mexico. Birth Defects Res A Clin Mol Teratol 79: 622-626
21. Goyette P, Pai A, Milos R, et al. 1998. Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mamm Genome 9: 652-656.
22. Grosse SD, Ouyang L, Collins JS, et al. 2008. Economic evaluation of a neural tube defect recurrence-prevention program. Am J Preventive Med 35: 572-577.
23. Hazra A, Kraft P, Lazarus R, et al. 2009. Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. Hum Mol Genet 18: 4677-4687.
24. Homberger A, Linnebank M, Winter C, et al. 2000. Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene. Eur J Hum Genet 8: 725-729.
25. Honein MA, Paulozzi LJ, Mathews TJ, et al. 2001. Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects. J Am Med Assoc 285: 2981-2986.
26. Krawczak M, Thomas NS, Hundrieser B, et al. 2007. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat 28: 150-158.
27. Lievers KJ, Boers GH, Verhoef P, et al. 2001. A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk. J Mol Med 79: 522-528.
28. Marini NJ, Gin J, Ziegle J, et al. 2008. The prevalence of folate-remedial MTHFR enzyme variants in humans. Proc Natl Acad Sci USA 105: 8055-8060.
29. Martin YN, Salavaggione OE, Eckloff BW, et al. 2006. Human methylenetetrahydrofolate reductase pharmacogenomics: gene resequencing and functional genomics. Pharmacogenet Genomics 16: 265-277.
30. Martinez CA, Northrup H, Lin JI, et al. 2009. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gyn 201: 394e1-11.
31. MRC Vitamin Study Research Group. 1991. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338: 131-137.
32. Mulinare J, Cordero JF, Erickson JD, Berry RJ. 1988. Periconceptional use of multivitamins and the occurrence of neural tube defects. J Am Med Assoc 260: 3141-3145.
33. O'Leary VB, Mills JL, Parle-McDermott A, et al.; Birth Defects Research Group. 2005. Screening for new MTHFR polymorphisms and NTD risk. Am J Med Genet A. 138A: 99-106.
34. Ou CY, Stevenson RE, Brown VK, et al. 1996. 5, 10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet 63: 610-614.
35. Shields DC, Kirke PN, Mills JL, et al. 1999. The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: An evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am J Hum Genet 64: 1045-1055.
36. Solis AS, Shariat N, Patton JG. 2008. Splicing fidelity, enhancers, and disease. Front Biosci 13: 1926-1942.
37. Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. 2009. The Human Gene Mutation Database: 2008 update. Genome Med 1: 13.
38. Tran P, Leclerc D, Chan M, et al. 2002. Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms. Mamm Genome 13: 483-492.
39. Trembath D, Sherbondy AL, Vandyke DC, et al. 1999. Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population. Teratology 59: 331-341.
40. Tress ML, Martelli PL, Frankish A, et al. 2007. The implications of alternative splicing in the ENCODE protein complement. Proc Natl Acad Sci USA 104: 5495-5500.
41. van der Put NM, Steegers-Theunissen RP, Frosst P, et al. 1995. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346: 1070-1071.
42. van der Put NM, Eskes TK, Blom HJ. 1997. Is the common 677C>T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. QJM 90: 111-115.
43. Wang X, Wang K, Radovich M, et al. 2009. Genome-wide prediction of cis-acting RNA elements regulating tissue-specific pre-mRNA alternative splicing. BMC Genomics 10( Suppl 1): S4.
44. Weisberg IS, Jacques PF, Selhub J, et al. 2001. The 1298A>C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis 156: 409-415.
45. Yen IH, Khoury MJ, Erickson JD, et al. 1992. The changing epidemiology of neural tube defects. United States, 1968-1989. Am J Dis Child 146: 857-861.