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

详细信息    查看全文

• 作者：Jin Guo (1)
  Hua Xie (1)
  Jianhua Wang (1)
  Huizhi Zhao (1)
  Fang Wang (1)
  Chi Liu (1)
  Li Wang (1)
  Xiaolin Lu (1)
  Yihua Bao (1)
  Jizhen Zou (1)
  Guoliang Wang (1)
  Bo Niu (2) (3)
  Ting Zhang (1) (2)
  
• 关键词：Association study ; Chinese population ; FOLH1 ; Neural tube defects ; Single ; nucleotide polymorphism
• 刊名：Genes & Nutrition
• 出版年：2013
• 出版时间：March 2013
• 年：2013
• 卷：8
• 期：2
• 页码：191-197
• 全文大小：271KB
• 参考文献：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 133:75-7
  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 70:45-2 CrossRef
  3. Botto LD, Yang Q (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151:862-77 CrossRef
  4. Copp AJ, Greene ND, Murdoch JN (2003) The genetic basis of mammalian neurulation. Nat Rev Genet 4:784-93 CrossRef
  5. Czeizel AE, Dudás I (1992) Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-835 CrossRef
  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 9:2837-844 CrossRef
  7. Feuchtbaum LB, Currier RJ, Riggle S, Roberson M, Lorey FW, Cunningham GC (1999) Neural tube defect prevalence in California (1990-994): eliciting patterns by type of defect and maternal race/ethnicity. Genet Test 3:265-72 CrossRef
  8. Gos M, Szpecht-Potocka A (2002) Genetic basis of neural tube defects. I. Regulatory genes for the neurulation process. J Appl Genet 43:343-50
  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 79:702-07 CrossRef
  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 344:189-92 CrossRef
  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 86:514-21
  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 28:1510-519 CrossRef
  13. Jacob RA (2000) Folate, DNA methylation, and gene expression: factors of nature and nurture. Am J Clin Nutr 72:903-04
  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. 76:237-40 CrossRef
  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-gt;T) on plasma homocysteine, folate and vitamin B(12) levels and its relationship to cardiovascular disease risk. Atherosclerosis 164:269-73 CrossRef
  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 61:21-9 CrossRef
  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 85:285-94 CrossRef
  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 79:197-00 CrossRef
  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) 201:455-66 CrossRef
  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 25:1605-612 CrossRef
  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 81:273-81 CrossRef
  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 39:392-01 CrossRef
  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- CrossRef
  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 91:610-15 CrossRef
  25. van der Put NM, van Straaten HW, Trijbels FJ, Blom HJ (2001) Folate, homocysteine and neural tube defects: an overview. Exp Biol Med 226:243-70
  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 111:218-19 CrossRef
  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 91:1359-367 CrossRef
  28. Xiao KZ (1989) Epidemiology of neural tube defects in China. Zhonghua Yi Xue Za Zhi 69:189-91
  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 27:59-5 CrossRef
  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 12:680-86 CrossRef
  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 12:226-32 CrossRef
  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 78:216-21 CrossRef
  
• 作者单位：Jin Guo (1)
  Hua Xie (1)
  Jianhua Wang (1)
  Huizhi Zhao (1)
  Fang Wang (1)
  Chi Liu (1)
  Li Wang (1)
  Xiaolin Lu (1)
  Yihua Bao (1)
  Jizhen Zou (1)
  Guoliang Wang (1)
  Bo Niu (2) (3)
  Ting Zhang (1) (2)
  
  1. Capital Institute of Pediatrics, Beijing, 100020, People’s Republic of China
  2. Department of Molecular Immunology, Capital Institute of Pediatrics No. 2, Yabao Road, Chaoyang District, Beijing, 100020, China
  3. Department of Biotechnology, Capital Institute of Pediatrics, No. 2, Yabao Road, Chaoyang District, Beijing, 100020, China
  
• ISSN：1865-3499

文摘

Folate hydrolase 1 (FOLH1) gene encodes intestinal folate hydrolase, which regulates intestinal absorption of dietary folate. Previous studies on the association between polymorphisms rs202676 and rs61886492 and the risk of neural tube defects (NTDs) were inconclusive. A case–control study of women with NTD-affected pregnancies (n?=?160) and controls (n?=?320) was conducted in the Chinese population of Lvliang, a high-risk area for NTDs. We genotyped the polymorphic sites rs202676 and rs61886492 and assessed maternal plasma folate and total homocysteine (tHcy). Our results showed that in case group, plasma folate concentrations were 18?% lower compared with those of control group (8.32 vs. 6.79?nmol/L, p?=?0.033) and tHcy concentrations were 17?% higher (10.47 vs. 12.65?μmol/L, p?=?0.047). Almost all samples had the rs61886492 GG genotype (99.78?%). The result showed that the frequency of GG genotype in rs202676 was significantly higher in group with multiple NTDs than in controls (p?=?0.030, OR?=?2.157, 95?% CI, 1.06-.38). The multiple-NTD group showed higher maternal plasma concentrations of tHcy (10.47 vs. 13.96?μmol/L, p?=?0.024). The GG genotype of rs202676 had a lower maternal folate and higher tHcy concentrations than other genotypes with no significant differences. The result of structural prediction indicated that this variation might change the spatial structure of the protein. These results suggested that the maternal polymorphism rs202676 was a potential risk factor for multiple NTDs in this Chinese population. The allele G might affect maternal plasma folate and tHcy concentration.