References
[1] Wallingford JB, Niswander LA, Shaw GM, et al. The continuing challenge of understanding, preventing, and treating neural tube defects[J]. Science, 2013, 339(6123): 1222002.
[2] Zhu H, Kartiko S, Finnell RH. Importance of gene-environment interactions in the etiology of selected birth defects[J]. Clin Genet, 2009, 75(5): 409-423.
[3] 中国出生缺陷监测协作组. 中国出生缺陷地图集[M]. 成都: 成都地图出版社, 1992.
[4] 郑晓瑛, 宋新明, 陈功. 中国出生缺陷高发地区出生缺陷 的发生水平和流行病学特征[J]. 中国流行病学杂志, 2007, 28(1): 5-9.
[5] Ooki S. Maternal age and birth defects after the use of assisted reproductive technology in Japan, 2004-2010[J]. Int J Womens Health, 2013, 5: 65-77.
[6] North K, McCredie J. Neurotomes and birth defects: a neuroanatomic method of interpretation of multiple congenital malformations[J]. Am J Med Genet Suppl, 1987, 3: 29-42.
[7] 孙淑娜. 叶酸缺乏导致人类先天性异常的机制研究进展[J]. 中国当代儿科杂志, 2006, 8(6): 527-530.
[8] Nelson MM, Asling CW, Evans HM. Production of multiple congenital abnormalities in young by maternal pteroylglutamic acid deficiency during gestation[J]. J Nutr, 1952, 48(1): 61-79.
[9] Nelson MM, Baird CD, Wright HV, et al. Multiple congenital abnormalities in the rat resulting from riboflavin deficiency induced by the antimetabolite galactoflavin[J]. J Nutr, 1956, 58(1): 125-134.
[10] Bower C, D'Antoine H, Stanley FJ. Neural tube defects in Australia: trends in encephaloceles and other neural tube defects before and after promotion of folic acid supplementation and voluntary food fortification[J]. Birth Defects Res A Clin Mol Teratol, 2009, 85(4): 269-273.
[11] Brouns R, Ursem N, Lindemans J, et al. Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects[J]. Prenat Diagn, 2008, 28(6): 485-493.
[12] Yu X, Liu J, Zhu H, et al. Synergistic association of DNA repair relevant gene polymorphisms with the risk of coronary artery disease in northeastern Han Chinese[J]. Thromb Res, 2014, 133(2): 229-234.
[13] Relton CL, Wilding CS, Pearce MS, et al. Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population[J]. J Med Genet, 2004, 41(4): 256-260.
[14] Cai B, Zhang T, Zhong R, et al. Genetic variant in MTRR, but not MTR, is associated with risk of congenital heart disease: an integrated meta-analysis[J]. PLoS One, 2014, 9(3): e89609.
[15] Huang J, Mei J, Jiang L, et al. rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot[J]. Biomed Rep, 2014, 2(2): 172-176.
[16] Blanton SH, Henry RR, Yuan Q, et al. Folate pathway and nonsyndromic cleft lip and palate[J]. Birth Defects Res A Clin Mol Teratol, 2011, 91(1): 50-60.
[17] Pangilinan F, Molloy AM, Mills JL, et al. Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects[J]. BMC Med Genet, 2012, 13: 62.
[18] Etheredge AJ, Finnell RH, Carmichael SL, et al. Maternal and infant gene-folate interactions and the risk of neural tube defects[J]. Am J Med Genet A, 2012, 158A(10): 2439-2446.
[19] Shaw GM, Lu W, Zhu H, et al. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects[J]. BMC Med Genet, 2009, 10: 49.
[20] Gu X, Lin L, Zheng X, et al. High prevalence of NTDs in Shanxi Province: a combined epidemiological approach[J]. Birth Defects Res A Clin Mol Teratol, 2007, 79(10): 702-707.
[21] Garne E, Dolk H, Loane M, et al. Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases[J]. Birth Defects Res A Clin Mol Teratol, 2011, 91 Suppl1: S44-S50.
[22] 孙淑娜. 叶酸缺乏导致人类先天性异常的机制研究进展[J]. 中国当代儿科, 2006, 8(6): 527-530.
[23] Mao J, McKean DM, Warrier S, et al. The iron exporter ferroportin 1 is essential for development of the mouse embryo, forebrain patterning and neural tube closure[J]. Development, 2010, 137(18): 3079-3088.
[24] Tao H, Suzuki M, Kiyonari H, et al. Mouse prickle1, the homolog of a PCP gene, is essential for epiblast apical-basal polarity[J]. Proc Natl Acad Sci U S A, 2009, 106(34): 14426-14431.
[25] Bassuk AG, Wallace RH, Buhr A, et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome[J]. Am J Hum Genet, 2008, 83(5): 572-581.
[26] Zhang P, Zucchelli M, Bruce S, et al. Transcriptome profiling of human pre-implantation development[J]. PLoS One, 2009, 4(11):e7844.
[27] Elmore CL, Wu X, Leclerc D, et al. Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase[J]. Mol Genet Metab, 2007, 91(1): 85-97.
[28] Deng L, Elmore CL, Lawrance AK, et al. Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice[J]. Mol Genet Metab, 2008, 94(3): 336-342.
[29] Olteanu H, Wolthers KR, Munro AW, et al. Kinetic and thermodynamic characterization of the common polymorphic variants of human methionine synthase reductase[J]. Biochemistry, 2004, 43(7): 1988-1997.
[30] Chen Z, Karaplis AC, Ackerman SL, et al. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition[J]. Hum Mol Genet, 2001, 10(5): 433-443.
[31] Wang L, Wang F, Guan J, et al. Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects[J]. Am J Clin Nutr, 2010, 91(5): 1359-1367.
[32] Chen X, Guo J, Lei Y, et al. Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study[J]. Birth Defects Res A Clin Mol Teratol, 2010, 88(7): 575-581.