The maternal folate hydrolase gene polymorphism is associated with neural tube defects in a high-risk Chinese population

Genes and Nutrition

Volumn 8, Issue 2, 2013, Pages 191-197

  Guo, Jin ^a   Xie, Hua ^a   Wang, Jianhua ^a   Zhao, Huizhi ^a   Wang, Fang ^a   Liu, Chi ^a   Wang, Li ^a   Lu, Xiaolin ^a   Bao, Yihua ^a   Zou, Jizhen ^a   Wang, Guoliang ^a   Niu, Bo ^a,b   Zhang, Ting ^a,b  

^a CAPITAL INSTITUTE OF PEDIATRICS   (China)

^b Department of Molecular Immunology   (China)

Author keywords

Association study; Chinese population; FOLH1; Neural tube defects; Single nucleotide polymorphism

Indexed keywords

FOLIC ACID; GAMMA GLUTAMYL HYDROLASE; GENOMIC DNA; HOMOCYSTEINE;

ADULT; ARTICLE; CASE CONTROL STUDY; CHINESE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA EXTRACTION; FEMALE; FOLH1 GENE; FOLIC ACID BLOOD LEVEL; GENETIC POLYMORPHISM; GENOTYPE; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; NEURAL TUBE DEFECT; PREGNANCY;

EID: 84879601121     PISSN: 15558932     EISSN: 18653499     Source Type: Journal    
DOI: 10.1007/s12263-012-0309-3     Document Type: Article

References (32)

1. Afman LA, Trijbels FJ, Blom HJ (2003) The H475Y polymorphism in the glutamate carboxypeptidase II gene increases plasma folate without affecting the risk for neural tube defects in humans. J Nutr 133:75-77
2. Barber R, Shalat S, Hendricks K, Joggerst B, Larsen R, Suarez L, Finnell R (2000) Investigation of folate pathway gene polymorphisms and the incidence of neural tube defects in a Texas hispanic population. Mol Genet Metab 70:45-52
3. Botto LD, Yang Q (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151:862-877
4. Copp AJ, Greene ND, Murdoch JN (2003) The genetic basis of mammalian neurulation. Nat Rev Genet 4:784-793
5. Czeizel AE, Dudás I (1992) Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835
6. Devlin AM, Ling EH, Peerson JM, Fernando S, Clarke R, Smith AD, Halsted CH (2000) Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia. Hum Mol Genet 9:2837-2844
7. Feuchtbaum LB, Currier RJ, Riggle S, Roberson M, Lorey FW, Cunningham GC (1999) Neural tube defect prevalence in California (1990-1994): eliciting patterns by type of defect and maternal race/ethnicity. Genet Test 3:265-272
8. Gos M, Szpecht-Potocka A (2002) Genetic basis of neural tube defects. I. Regulatory genes for the neurulation process. J Appl Genet 43:343-350
9. Gu X, Lin L, Zheng X, Zhang T, Song X, Wang J, Li X, Li P, Chen G, Wu J, Wu L, Liu J (2007) High prevalence of NTDs in Shanxi Province: a combined epidemiological approach. Birth Defects Res A Clin Mol Teratol 79:702-707
10. Guéant-Rodriguez RM, Rendeli C, Namour B, Venuti L, Romano A, Anello G, Bosco P, Debard R, Gérard P, Viola M, Salvaggio E, Guéant JL (2003) Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci Lett 344:189-192
11. Halsted CH, Wong DH, Peerson JM, Warden CH, Refsum H, Smith AD, Nygard OK, Ueland PM, Vollset SE, Tell GS (2007) Relations of glutamate carboxypeptidase II (GCPII) polymorphisms to folate and homocysteine concentrations and to scores of cognition, anxiety, and depression in a homogeneous Norwegian population: the Hordaland Homocysteine Study. Am J Clin Nutr 86:514-521
12. Hazra A, Wu K, Kraft P, Fuchs CS, Giovannucci EL, Hunter DJ (2007) Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study. Carcinogenesis 28:1510-1519
13. Jacob RA (2000) Folate, DNA methylation, and gene expression: factors of nature and nurture. Am J Clin Nutr 72:903-904
14. Li Z, Ren A, Zhang L, Ye R, Li S, Zheng J, Hong S, Wang T, Li Z (2006) Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China. Birth Defects Res A Clin Mol Teratol. 76:237-240
15. Lievers KJ, Kluijtmans LA, Boers GH, Verhoef P, den Heijer M, Trijbels FJ et al (2002) Influence of a glutamate carboxypeptidase II (GCPII) polymorphism (1561C->T) on plasma homocysteine, folate and vitamin B(12) levels and its relationship to cardiovascular disease risk. Atherosclerosis 164:269-273
16. Liu H, Jin G, Wang H, Wu W, Liu Y, Qian J, Fan W, Ma H, Miao R, Hu Z, Sun W, Wang Y et al (2008) Association of polymorphisms in one-carbon metabolizing genes and lung cancer risk: a case-control study in Chinese population. Lung Cancer 61:21-29
17. Molloy AM, Brody LC, Mills JL, Scott JM, Kirke PN (2009) The search for genetic polymorphisms in the homocysteine/folate pathway that contribute to the etiology of human neural tube defects. Birth Defects Res A Clin Mol Teratol 85:285-294
18. Morin I, Devlin AM, Leclerc D, Sabbaghian N, Halsted CH, Finnell R, Rozen R (2003) Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk. Mol Genet Metab 79:197-200
19. Nakatsu T, Uwabe C, Shiota K (2000) Neural tube closure in humans initiates at multiple sites: evidence from human embryos and implications for the pathogenesis of neural tube defects. Anat Embryol (Berl) 201:455-466
20. Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC, Ferrin TE (2004) UCSF Chimera - a visualization system for exploratory research and analysis. J Comput Chem 25:1605-1612
21. Relton CL, Wilding CS, Laffling AJ, Jonas PA, Burgess T, Binks K, Tawn EJ, Burn J (2004) Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. Mol Genet Metab 81:273-281
22. Rose PW, Beran B, Bi C, Bluhm WF, Dimitropoulos D, Goodsell DS, Prlic A, Quesada M, Quinn GB, Westbrook JD, Young J, Yukich B et al (2011) The RCSB Protein Data Bank: redesigned web site and web services. Nucleic Acids Res 39:392-401
23. Shang Y, Zhao H, Niu B, Li WI, Zhou R, Zhang T, Xie J (2008) Correlation of polymorphism of MTHFRs and RFC-1 genes with neural tube defects in China. Birth Defects Res A Clin Mol Teratol 82:3-7
24. Sutton M, Mills JL, Molloy AM, Troendle JF, Brody LC, Conley M, Mc Donnell R, Scott JM, Kirke PN (2011) Maternal folate, vitamin B12 and homocysteine levels in pregnancies affected by congenital malformations other than neural tube defects. Birth Defects Res A Clin Mol Teratol 91:610-615
25. van der Put NM, van Straaten HW, Trijbels FJ, Blom HJ (2001) Folate, homocysteine and neural tube defects: an overview. Exp Biol Med 226:243-270
26. Vieira AR, Trembath D, Vandyke DC, Murray JC, Marker S, Lerner G, Bonner E, Speer M (2002) Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects. Am J Med Genet 111:218-219
27. Wang L, Wang F, Guan J, Le J, Wu L, Zou J, Zhao H, Pei L, Zheng X, Zhang T (2010) Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects. Am J Clin Nutr 91:1359-1367
28. Xiao KZ (1989) Epidemiology of neural tube defects in China. Zhonghua Yi Xue Za Zhi 69:189-191
29. Xie H, Guo J, Wang J, Wang F, Zhao H, Liu C, Wang L, Lu X, Wu L, Bao Y, Zou J, Zhang T et al (2012) Glutamate carboxypeptidase II gene polymorphisms and neural tube defects in a high-risk Chinese population. Metab Brain Dis 27:59-65
30. Zhang T, Xin R, Gu X, Wang F, Pei L, Lin L, Chen G, Wu J, Zheng X (2009) Maternal serum vitamin B12, folate and homocysteine and the risk of neural tube defects in the offspring in a high-risk area of China. Public Health Nutr 12:680-686
31. Zhang XM, Huang GW, Tian ZH, Ren DL, Wilson JX (2009) Folate stimulates ERK1/2 phosphorylation and cell proliferation in fetal neural stem cells. Nutr Neurosci 12:226-232
32. Zhu H, Wicker NJ, Shaw GM, Lammer EJ, Hendricks K, Suarez L, Canfield M, Finnell RH (2003) Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol Genet Metab 78:216-221