MTHFD1 polymorphism as maternal risk for neural tube defects: a meta-analysis

详细信息    查看全文

• 作者：Jinyu Zheng ; Xiaocheng Lu ; Hao Liu ; Penglai Zhao ; Kai Li ; Lixin Li
• 关键词：MTHFD1 polymorphism ; Maternal risk ; NTD ; Meta ; analysis
• 刊名：Neurological Sciences
• 出版年：2015
• 出版时间：April 2015
• 年：2015
• 卷：36
• 期：4
• 页码：607-616
• 全文大小：864 KB
• 参考文献：1. Kondo, A, Kamihira, O, Ozawa, H (2009) Neural tube defects: prevalence, etiology and prevention. Int J Urol 16: pp. 49-57 CrossRef
  2. Koch, MC, Stegmann, K, Ziegler, A, Schroter, B, Ermert, A (1998) Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population. Eur J Pediatr 157: pp. 487-492 CrossRef
  3. Wallingford, JB, Niswander, LA, Shaw, GM, Finnell, RH (2013) The continuing challenge of understanding, preventing, and treating neural tube defects. Science 339: pp. 1222002 CrossRef
  4. Copp, AJ, Stanier, P, Greene, ND (2013) Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol 12: pp. 799-810 CrossRef
  5. Marco, P, Merello, E, Cama, A, Kibar, Z, Capra, V (2011) Human neural tube defects: genetic causes and prevention. Biofactors 37: pp. 261-268 CrossRef
  6. Botto, LD, Moore, CA, Khoury, MJ, Erickson, JD (1999) Neural-tube defects. New Engl J Med 341: pp. 1509-1519 CrossRef
  7. Chen, X, Guo, J, Lei, Y, Zou, J, Lu, X, Bao, Y, Wu, L, Wu, J, Zheng, X, Shen, Y, Wu, BL, Zhang, T (2010) Global DNA hypomethylation is associated with NTD-affected pregnancy: a case-control study. Birth Defects Res A 88: pp. 575-581 CrossRef
  8. Busby, A, Abramsky, L, Dolk, H, Armstrong, B, Addor, MC, Anneren, G, Armstrong, N, Baguette, A, Barisic, I, Berghold, A, Bianca, S, Braz, P, Calzolari, E, Christiansen, M, Cocchi, G, Daltveit, AK, Walle, H, Edwards, G, Gatt, M, Gener, B, Gillerot, Y, Gjergja, R, Goujard, J, Haeusler, M, Latos-Bielenska, A, McDonnell, R, Neville, A, Olars, B, Portillo, I, Ritvanen, A, Robert-Gnansia, E, Rosch, C, Scarano, G, Steinbicker, V (2005) Preventing neural tube defects in Europe: a missed opportunity. Reprod Toxicol 20: pp. 393-402 CrossRef
  9. Greene, ND, Stanier, P, Copp, AJ (2009) Genetics of human neural tube defects. Hum Mol Genet 18: pp. R113-R129 CrossRef
  10. Copp, AJ, Brook, FA, Estibeiro, JP, Shum, AS, Cockroft, DL (1990) The embryonic development of mammalian neural tube defects. Prog Neurobiol 35: pp. 363-403 CrossRef
  11. 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 85: pp. 285-294 CrossRef
  12. Blom, HJ, Shaw, GM, Heijer, M, Finnell, RH (2006) Neural tube defects and folate: case far from closed. Nat Rev Neurosci 7: pp. 724-731 CrossRef
  13. Berry, RJ, Li, Z, Erickson, JD, Li, S, Moore, CA, Wang, H, Mulinare, J, Zhao, P, Wong, LY, Gindler, J, Hong, SX, Correa, A (1999) Prevention of neural-tube defects with folic acid in China. China-US Collaborative Project for Neural Tube Defect Prevention. New Engl J Med 341: pp. 1485-1490 CrossRef
  14. Blencowe, H, Cousens, S, Modell, B, Lawn, J (2010) Folic acid to reduce neonatal mortality from neural tube disorders. Int J Epidemiol 39: pp. i110-i121 CrossRef
  15. Blom, HJ, Smulders, Y (2011) Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. J Inherit Metab Dis 34: pp. 75-81 CrossRef
  16. Marini, NJ, Hoffman
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Neurology
  Neuroradiology
  Neurosurgery
  Psychiatry
  
• 出版者：Springer Milan
• ISSN：1590-3478

文摘

Recently, the association between methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) G1958A polymorphism and neural tube defects (NTD) susceptibility has been widely investigated; however, the results remained inconclusive. Hence, we conducted a meta-analysis to evaluate the effect of MTHFD1 G1958A polymorphism on NTD. The relative literatures were identified by search of the electronic databases PubMed, MEDLINE, and EMBASE. The extracted data were statistically analyzed, and pooled odds ratios (ORs) with 95?% confidence intervals (CIs) were calculated to estimate the association strength using Stata version 11.0 software. Finally, ten studies met our inclusion criteria, including 2,132/4,082 in NTD infants and controls; 1,402/3,136 in mothers with NTD offspring and controls; and 993/2,879 in fathers with NTD offspring and controls. This meta-analysis showed that, compared with the mothers with GG genotype, the women with AA genotype had an increased risk of NTD in their offspring, with OR values and 95?% CI at 1.39 (1.16-.68), p?p?=?0.009). However, there was no significant association between the MTHFD1 G1958A polymorphism in NTD patients and the risk of NTD. In conclusion, the present meta-analysis provided evidence of the association between maternal MTHFD1 G1958A polymorphism and NTD susceptibility.