Association of reduced folate carrier gene polymorphism and maternal folic acid use with neural tube defects

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 150, Issue 6, 2009, Pages 874-878

  Pei, Lijun ^a,b   Liu, Jianmeng ^b   Zhang, Yewu ^b   Zhu, Huiping ^c   Ren, Aiguo ^b  

^a PEKING UNIVERSITY   (China)

^b PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

^c TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

Author keywords

Chinese population; Gene environment interaction; Neural tube defects; Population based case control study; RFC1 gene polymorphism

Indexed keywords

FOLIC ACID; REDUCED FOLATE CARRIER; REDUCED FOLATE CARRIER 1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; FEMALE; GENE INTERACTION; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEURAL TUBE DEFECT; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHINA; DIETARY SUPPLEMENTS; FEMALE; FOLIC ACID; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE TRANSPORT PROTEINS; NEURAL TUBE DEFECTS; POLYMORPHISM, GENETIC; PRECONCEPTION CARE; REDUCED FOLATE CARRIER PROTEIN; RISK FACTORS;

EID: 69049101171     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30911     Document Type: Article

References (25)

1. Berry RJ, Li Z, Erickson DJ, Li S, Moore SA, Wang H, Mulinare J, Zhao P, Wong LY, Ginderler J, Hong XS, Corea A. 1999. Prevention of neural tube defects with folate acid in China. N Engl J Med 341:1485-1490.
2. Botto LD, Yang Q. 2000. 5,10-Methylenetetrahydrofolate reductase gene variants congenital anomalies: A HuGE review. Am J Epidemiol 151: 862-877.
3. Brigle KE, Spinella MF, Sierra EE. 1995. Characterization of a mutation in the reduced folate carrier in a transport defective L1210 murine leukemia cell line. J Biol Chem 270:22974-22979.
4. Chango A, Emery-Fillon N, Courcy GP, Lambert D, Pfister M, Rosenblatt DS, Nicolas JP. 2000. A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol Genet Metab 70:310-315.
5. Czeizel AE, Dudas I. 1992. Prevention of the first occurrence of neural tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835.
6. Dixon KH, Lanpher BC, Chiu J. 1994. Anovelc DNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells. J Biol Chem 269:17-20.
7. Finnell RH, Greer KA, Barber RC, Piedrahita JA. 1998. Neural tube defects and craniofacial defects with special emphasis on folate pathway genes. Crit Rev Oral Bio Med 9:38-53.
8. Hresko RC, Kruse M, Strube M. 1994. Topology of the Glut 1 glucose transporter deduced from glycosylation scanning mutagenesis. J Biol Chem 269:20482-20488.
9. Jacques PF, Bostom AG, Williams RR. 1996. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93:7-9.
10. Kamen BA, Wang MT, Streckfuss AJ. 1988. Delivery of folates to the cytoplasm of MA104 cells is mediated by a surface membrane receptor that recycles. J Biol Chem 263:13602-13609.
11. Liu JM, Li S, Li Q, Li Z. 1999. Prevalence of cerebral palsy in China. Int J Epidemiol 28:949-954.
12. Matherly LH, Goldman ID. 2003. Membrane transport of folate. Vitam Horm 66:403-456.
13. MRC vitamine study research group. 1991. Prevention of neural tube defects: Results of the Medical Research Council vitamin study. Lancet 338:131-137.
14. Ottman R. 1990. A epidemiologic approach to gene-environment interaction. Genet Epidemiol 106:177-185.
15. Pei LJ, Zhu HP, Ren AG, Zhao WR, Li ZZ, Hou GW, Zhang BL, Jiang YY, Wu LM, Pan YJ, Zhang ML. 2004. Study on reduced folate carrier gene (RFC1) polymorphism in the southern and northern of Chinese population. Chin J Epidemiol 25:499-502.
16. Piedrahita JA, Oetama B, Bennett GD. 1999. Mice lacking the folic acidbinding protein Folbp1 are defective in early embryonic development. Nat Genet 23:228-232.
17. Rady PL, Szucs S, Grady J, Hudnall SD, Kellner LH, Nitowsky H, Tyring SK, Matalon RK. 2001. Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas: A report of a novel MTHFR polymorphic site, G1793A. Am J Med Genet 107:162-168.
18. Shaw GM, Lammer EJ, Zhu HP, Baker MW, Neri E, Finnell RH. 2002. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 108:1-6.
19. Shaw GM, Zhu H, Lammer EJ, Yang W, Finnell RH. 2003. Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects. Am J Epidemiol 158:747-752.
20. Smithells RW, Sheppard S, Schorah CJ. 1976. Vitamin deficiencies and neural tube defects. Arch Dis Child 51:944-950.
21. Steegers-Theunissen RP, Boers GH, Trijbels FJ. 1994. Maternal hyperhomocysteinemia: A risk factor for neural tube defects? Metabolism 43:1475-1480.
22. Van DPNMJ, Steegers TRPM, Fross P. 1995. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346: 1070-1071.
23. Volcik KA, Blanton SH, Tyerman GH. 2000. Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotype risk in Hispanics. Am J Med Genet 95:21-27.
24. Zhao R, Russell RG, Wang Y. 2001. Rescue of embryonic lethality in reduced folate carrier-deficient mice by maternal folic acid supplementation reveals early neonatal failure of hematopoietic organs. J Biol Chem 276:10224-10228.
25. Zhu HP, Li Z. 2000. MTHFR gene polymorphism and NTDs susceptibility in Chinese. Hereditas 22:236-238.