Variants in MTHFR gene and neural tube defects susceptibility in China

Metabolic Brain Disease

Volumn 30, Issue 4, 2015, Pages 1017-1026

  Wang, Yongxin ^a   Liu, Yuan ^a   Ji, Wenyu ^a   Qin, Hu ^a   Wu, Hao ^a   Xu, Danshu ^a   Turtuohut, Tukebai ^a   Wang, Zengliang ^a  

^a XINJIANG MEDICAL UNIVERSITY   (China)

Author keywords

10 methylenetetrahydrofolate reductase; Folic acid cycle; Neural tube defects 5; Polymorphism

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); GENOMIC DNA; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MTHFR PROTEIN, HUMAN;

3' UNTRANSLATED REGION; ADULT; ALLELE; ARTICLE; ASIAN; BLOOD SAMPLING; CASE CONTROL STUDY; CHINA; CONTROLLED STUDY; EXON; FEMALE; FETUS RISK; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE MAP; HUMAN; MAJOR CLINICAL STUDY; NEURAL TUBE DEFECT; PREGNANCY; PREGNANT WOMAN; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; META ANALYSIS; NEURAL TUBE DEFECTS; RISK FACTOR;

ADULT; CASE-CONTROL STUDIES; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); NEURAL TUBE DEFECTS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; RISK FACTORS; YOUNG ADULT;

EID: 84943582778     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-015-9662-4     Document Type: Article

References (48)

1. 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-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med 341:1485–1490
2. Bianca S, Bianca M, Bonaffini F, Ettore G (2002) The role of maternal reproductive history in the aetiology of neural tube defects. Med Hypotheses 58:113–114
3. Boduroglu K, Alanay Y, Alikasifoglu M, Aktas D, Tunçbilek E (2005) Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population. Turk J Pediatr 47:327
4. Carter TC, Pangilinan F, Troendle JF, Molloy AM, VanderMeer J, Mitchell A, Kirke PN, Conley MR, Shane B, Scott JM, Brody LC, Mills JL (2011) Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population. Am J Med Genet A 155A:14–21
5. Coelho C, Weber JA, Klein NW, Daniels WG, Hoagland TA (1989) Whole rat embryos require methionine for neural tube closure when cultured on cow serum. J Nutr 119:1716–1725
6. Cunha AL, Hirata MH, Kim CA, Guerra-Shinohara EM, Nonoyama K, Hirata RD (2002) Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects. Clin Chim Acta 318:139–143
7. Dalal A, Pradhan M, Tiwari D, Behari S, Singh U, Mallik GK, Das V, Agarwal S (2007) MTHFR 677C–>T and 1298A–>C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect. Gynecol Obstet Investig 63:146–150
8. De Marco P, Calevo MG, Moroni A, Arata L, Merello E, Finnell RH, Zhu H, Andreussi L, Cama A, Capra V (2002) Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population. J Hum Genet 47:319–324
9. Deb R, Arora J, Meitei SY, Gupta S, Verma V, Saraswathy KN, Saran S, Kalla AK (2011) Folate supplementation, MTHFR gene polymorphism and neural tube defects: a community based case control study in North India. Metab Brain Dis 26:241–246
10. Essien FB, Wannberg SL (1993) Methionine but not folinic acid or vitamin B-12 alters the frequency of neural tube defects in Axd mutant mice. J Nutr 123:27–34
11. Godbole K, Gayathri P, Ghule S, Sasirekha BV, Kanitkar-Damle A, Memane N, Suresh S, Sheth J, Chandak GR, Yajnik CS (2011) Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India. Birth Defects Res A Clin Mol Teratol 91:848–856
12. Greenland S, Ackerman D (1995) Clomiphene citrate and neural tube defects: a pooled analysis of controlled epidemiologic studies and recommendations for future studies. Fertil Steril 64:936–941
13. Harisha PN, Devi BI, Christopher R, Kruthika-Vinod TP (2010) Impact of 5,10-methylenetetrahydrofolate reductase gene polymorphism on neural tube defects. J Neurosurg Pediatr 6:364–367
14. Honein MA, Kirby RS, Meyer RE, Xing J, Skerrette NI, Yuskiv N, Marengo L, Petrini JR, Davidoff MJ, Mai CT (2009) The association between major birth defects and preterm birth. Matern Child Health J 13:164–175
15. Kasan PN, Andrews J (1980) Oral contraception and congenital abnormalities. BJOG: Int J Obstet Gynaecol 87:545–551
16. Kirke PN, Mills JL, Molloy AM, Brody LC, O’Leary VB, Daly L, Murray S, Conley M, Mayne PD, Smith O, Scott JM (2004) Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case–control study. BMJ 328:1535–1536
17. Kondo A, Fukuda H, Matsuo T, Shinozaki K, Okai I (2014) C677T mutation in methylenetetrahydrofolate reductase gene and neural tube defects: should Japanese women undergo gene screening before pregnancy? Congenit Anom (Kyoto) 54:30–34
18. Lacasana M, Blanco-Munoz J, Borja-Aburto VH, Aguilar-Garduno C, Rodriguez-Barranco M, Sierra-Ramirez JA, Galaviz-Hernandez C, Gonzalez-Alzaga B, Garcia-Cavazos R (2012) Effect on risk of anencephaly of gene-nutrient interactions between methylenetetrahydrofolate reductase C677T polymorphism and maternal folate, vitamin B12 and homocysteine profile. Public Health Nutr 15:1419–1428
19. Lee BH, Cheong HI, Shin YS, Cho BK, Wang KC (2000) The effect of C677T mutation of methylene tetrahydrofolate reductase gene and plasma folate level on hyperhomocysteinemia in patients with meningomyelocele. Childs Nerv Syst 16:559–563
20. Li ZW, Zhang L, Ye RW, Liu JM, Pei LJ, Zheng XY, Ren AG (2011) Maternal periconceptional consumption of pickled vegetables and risk of neural tube defects in offspring. Chin Med J (Engl) 124: 1629–1633
21. Lindhout D, Schmidt D (1986) In-utero exposure to valproate and neural tube defects. Lancet 327:1392–1393
22. Liu ZZ, Zhang JT, Liu D, Hao YH, Chang BM, Xie J, Li PZ (2013) Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population. Chin Med J (Engl) 126:865–869
23. Liu J, Qi J, Yu X, Zhu J, Zhang L, Ning Q, Luo X (2014a) Investigations of single nucleotide polymorphisms in folate pathway genes in Chinese families with neural tube defects. J Neurol Sci 337:61–66
24. Liu J, Zhang Y, Jin L, Li G, Wang L, Bao Y, Fu Y, Li Z, Zhang L, Ye R, Ren A (2014b) Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring. Metab Brain Dis
25. Martinez de Villarreal LE, Delgado-Enciso I, Valdez-Leal R, Ortiz-Lopez R, Rojas-Martinez A, Limon-Benavides C, Sanchez-Pena MA, Ancer-Rodriguez J, Barrera-Saldana HA, Villarreal-Perez JZ (2001) Folate levels and N(5), N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) inmothers of offspring with neural tube defects: a case–control study. Arch Med Res 32:277–282
26. Mornet E, Muller F, Lenvoisé-Furet A, Delezoide A-L, Col J-Y, Simon- Bouy B, Serre J-L (1997) Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects. Hum Genet 100:512–514
27. Naushad SM, Devi AR (2010) Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India. J Perinat Med 38:63–69
28. Obeid R, Holzgreve W, Pietrzik K (2013) Is 5-methyltetrahydrofolate an alternative to folic acid for the prevention of neural tube defects? J Perinat Med 41:469–483
29. Pangilinan F, Molloy AM, Mills JL, Troendle JF, Parle-McDermott A, Signore C, O’Leary VB, Chines P, Seay JM, Geiler-Samerotte K, Mitchell A, VanderMeer JE, Krebs KM, Sanchez A, Cornman- Homonoff J, Stone N, Conley M, Kirke PN, Shane B, Scott JM, Brody LC (2012) Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. BMC Med Genet 13:62
30. Qi M, Huang X, Zhou L, Zhang J (2014) Four polymorphisms of VEGF (+405C>G, -460T>C, -2578C>A, and -1154G>A) in susceptibility to psoriasis: a meta-analysis. DNA Cell Biol 33:234–244
31. Qiu LJ, Ni J, Cen H, Wen PF, Zhang M, Liang Y, Pan HF, Mao C, Ye DQ (2014) Relationship between the IL-4 gene promoter -590C/T (rs2243250) polymorphism and susceptibility to autoimmune diseases: a meta-analysis. J Eur Acad Dermatol Venereol
32. Refsum H (2001) Folate, vitamin B12 and homocysteine in relation to birth defects and pregnancy outcome. Br J Nutr 85:S109–S113
33. Richter B, Stegmann K, Röper B, Böddeker I, Ngo ET, Koch MC (2001) Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. J Hum Genet 46:105–109
34. Sadewa AH, Sutomo R, Istiadjid M, Nishiyama K, Shirakawa T, Matsuo M, Nishio H (2004) C677T mutation in the MTHFR gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia. Pediatr Int 46:409–414
35. 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
36. Simpson JL, Bailey LB, Pietrzik K, Shane B, Holzgreve W (2010) Micronutrients and women of reproductive potential: required dietary intake and consequences of dietary deficiency or excess. Part I folate, vitamin B12, vitamin B6. J Matern Fetal Neonatal Med 23: 1323–1343
37. Stegmann K, Ziegler A, Ngo ET, Kohlschmidt N, Schröter B, Ermert A, Koch MC (1999) Linkage disequilibrium of MTHFR genotypes 677C/T‐1298A/C in the German population and association studies in probands with neural tube defects (NTD). Am J Med Genet 87: 23–29
38. Strauss KA, Morton DH, Puffenberger EG, Hendrickson C, Robinson DL, Wagner C, Stabler SP, Allen RH, Chwatko G, Jakubowski H, Niculescu MD, Mudd SH (2007) Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency. Mol Genet Metab 91:165–175
39. van der Put NM, Trijbels F, van den Heuvel L, Blom H, Steegers- Theunissen R, Eskes T, Mariman E, Den Heyer M, Frosst P, Rozen R (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070–1071
40. van der Put NM, Thomas CM, Eskes TK, Trijbels FJ, Steegers- Theunissen RP, Mariman EC, De Graaf-Hess A, Smeitink JA, Blom HJ (1997) Altered folate and vitamin B12 metabolism in families with spina bifida offspring. QJM 90:505–510
41. van der Put NM, Gabreëls F, Stevens E, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ (1998) A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 62:1044–1051
42. Volcik K, Blanton S, Tyerman G, Jong S, Rott E, Page T, Romaine N, Northrup H (2000) Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in hispanics. Am J Med Genet 95:21–27
43. Weiss R, Fogelman Y, Bennett M (2004) Severe vitamin B12 deficiency in an infant associated with a maternal deficiency and a strict vegetarian diet. J Pediatr Hematol Oncol 26:270–271
44. Welch AD (1983) Folic acid: discovery and the exciting first decade. Perspect Biol Med 27:64–75
45. Werler MM, Shapiro S, Mitchell AA (1993) Periconceptional folic acid exposure and risk of occurrent neural tube defects. Jama 269:1257–1261
46. Yates JR, Ferguson-SmithMA, Shenkin A, Guzman-Rodriguez R,White M, Clark BJ (1987) Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects? Clin Genet 31:279–287
47. Yu J, Chen B, Zhang G, Fu S, Li P (2000) The 677 C–>T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in five Chinese ethnic groups. Hum Hered 50:268–270
48. Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G (2013) Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature. PLoS One 8:e59570