Folate-related gene variants in Irish families affected by neural tube defects

Frontiers in Genetics

Volumn 4, Issue NOV, 2013, Pages

  Green, Ridgely Fisk ^a   Byrne, Julianne ^b   Crider, Krista S ^a   Gallagher, Margaret ^c   Koontz, Deborah ^c   Berry, Robert J ^a  

^a NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES   (United States)

^b BOYNE RESEARCH INSTITUTE   (Ireland)

^c NATIONAL CENTER FOR ENVIRONMENTAL HEALTH   (United States)

Author keywords

DHFR 19bp deletion; Folate metabolism; Maternal inheritance; MTHFD1 1958G>A; MTHFR 1298A>C; MTHFR 677C>T; Neural tube defects; SLC19A1 80A>G

Indexed keywords

EID: 84890257741     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2013.00223     Document Type: Article

References (37)

1. Botto, L. D., Lisi, A., Bower, C., Canfield, M. A., Dattani, N., De Vigan, C., et al. (2006). Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment. Birth Defects Res. A. Clin. Mol. Teratol. 76, 693-705. doi: 10.1002/bdra.20307.
2. Botto, L. D., and Yang, Q. (2000). 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am. J. Epidemiol. 151, 862-877. doi: 10.1093/oxfordjournals.aje.a010290.
3. Brody, L. C., Conley, M., Cox, C., Kirke, P. N., McKeever, M. P., Mills, J. L., et al. (2002). A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am. J. Hum. Genet. 71, 1207-1215. doi: 10.1086/344213.
4. Byrne, J. (2008). Birth defects in uncles and aunts from Irish families with neural tube defects. Birth Defects Res. A. Clin. Mol. Teratol. 82, 8-15. doi: 10.1002/bdra.20406.
5. Byrne, J. (2010). Birth defects among maternal first cousins in Irish families with a neural tube defect. Ir. J. Med. Sci. 179, 375-380. doi: 10.1007/s11845-009-0381-x.
6. Byrne, J. (2011). Three generations of matrilineal excess of birth defects in Irish families with neural tube defects. Ir. J. Med. Sci. 180, 69-72. doi: 10.1007/s11845-010-0632-x.
7. Byrne, J., Cama, A., Reilly, M., Vigliarolo, M., Levato, L., Boni, L., et al. (1996). Multigeneration maternal transmission in Italian families with neural tube defects. Am. J. Med. Genet. 66, 303-310. doi: 10.1002/(SICI)1096-8628(19961218)66:3<303::AID-AJMG13>3.3.CO;2-2.
8. Carter, T. C., Pangilinan, F., Troendle, J. F., Molloy, A. M., VanderMeer, J., Mitchell, A., et al. (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 155, 14-21. doi: 10.1002/ajmg.a.33755.
9. Chango, A., Emery-Fillon, N., de Courcy, G. P., Lambert, D., Pfister, M., Rosenblatt, D. S., et al. (2000). A polymorphism (80G→A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol. Genet. Metab. 70, 310-315. doi: 10.1006/mgme.2000.3034.
10. Christensen, K. E., Rohlicek, C. V., Andelfinger, G. U., Michaud, J., Bigras, J. L., Richter, A., et al. (2009). The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects. Hum. Mutat. 30, 212-220. doi: 10.1002/humu.20830.
11. Coffey, V. P. (1983). Neural tube defects in Dublin 1953-1954 and 1961-1982. Ir. Med. J. 76, 411-413.
12. Crider, K. S., Yang, T. P., Berry, R. J., and Bailey, L. B. (2012). Folate and DNA methylation: a review of molecular mechanisms and the evidence for folate's role. Adv. Nutr. 3, 21-38. doi: 10.3945/an.111.000992.
13. Czeizel, A. E., and Dudas, I. (1992). Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N. Engl. J. Med. 327, 1832-1835. doi: 10.1056/NEJM199212243272602.
14. Deak, K. L., Siegel, D. G., George, T. M., Gregory, S., Ashley-Koch, A., Speer, M. C., et al. (2008). Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects. Birth Defects Res. A. Clin. Mol. Teratol. 82, 662-669. doi: 10.1002/bdra.20511.
15. De Marco, P., Calevo, M. G., Moroni, A., Merello, E., Raso, A., Finnell, R. H., et al. (2003). Reduced folate carrier polymorphism (80A→G) and neural tube defects. Eur. J. Hum. Genet. 11, 245-252. doi: 10.1038/sj.ejhg.5200946.
16. Frosst, P., Blom, H. J., Milos, R., Goyette, P., Sheppard, C. A., Matthews, R. G., et al. (1995). A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 10, 111-113. doi: 10.1038/ng0595-111.
17. Kalmbach, R. D., Choumenkovitch, S. F., Troen, A. P., Jacques, P. F., D'Agostino, R., and Selhub, J. (2008). A 19-base pair deletion polymorphism in dihydrofolate reductase is associated with increased unmetabolized folic acid in plasma and decreased red blood cell folate. J. Nutr. 138, 2323-2327. doi: 10.3945/jn.108.096404.
18. Kirke, P. N., Mills, J. L., Molloy, A. M., Brody, L. C., O'Leary, V. B., Daly, L., et al. (2004). Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study. BMJ 328, 1535-1536. doi: 10.1136/bmj.38036.646030.EE.
19. Mills, J. L., Molloy, A. M., Parle-McDermott, A., Troendle, J. F., Brody, L. C., Conley, M. R., et al. (2008). Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. Birth Defects Res. A. Clin. Mol. Teratol. 82, 636-643. doi: 10.1002/bdra.20491.
20. Molloy, A. M., Brody, L. C., Mills, J. L., Scott, J. M., and Kirke, P. N. (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. doi: 10.1002/bdra.20566.
21. MRC Vitamin Study Research Group. (1991). Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338, 131-137. doi: 10.1016/0140-6736(91)90133-A.
22. Mynett-Johnson, L. A., Keenan, C., Black, I. L., Livingstone, W. J., Lawler, M., Roche, H. M., et al. (2002). Thermolabile methylenetetrahydrofolate reductase (C677T): frequency in the Irish population. Ir. J. Med. Sci. 171, 37-39. doi: 10.1007/BF03168940.
23. O'Connell, J. R., and Weeks, D. E. (1998). PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am. J. Hum. Genet. 63, 259-266. doi: 10.1086/301904.
24. O'Leary, V. B., Pangilinan, F., Cox, C., Parle-McDermott, A., Conley, M., Molloy, A. M., et al. (2006). Reduced folate carrier polymorphisms and neural tube defect risk. Mol. Genet. Metab. 87, 364-369. doi: 10.1016/j.ymgme.2005.09.024.
25. Pangilinan, F., Molloy, A. M., Mills, J. L., Troendle, J. F., Parle-McDermott, A., Signore, C., et al. (2012). Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. BMC Med. Genet. 13:62. doi: 10.1186/1471-2350-13-62.
26. Parle-McDermott, A., Kirke, P. N., Mills, J. L., Molloy, A. M., Cox, C., O'Leary, V. B., et al. (2006). Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. Eur. J. Hum. Genet. 14, 768-772. doi: 10.1038/sj.ejhg.5201603.
27. Parle-McDermott, A., Mills, J. L., Kirke, P. N., O'Leary, V. B., Swanson, D. A., Pangilinan, F., et al. (2003). Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects. J. Hum. Genet. 48, 190-193. doi: 10.1007/s10038-003-0008-4.
28. Parle-McDermott, A., Pangilinan, F., Mills, J. L., Kirke, P. N., Gibney, E. R., Troendle, J., et al. (2007). The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population. Am. J. Med. Genet. A 143A, 1174-1180. doi: 10.1002/ajmg.a.31725.
29. Shaw, G. M., Lu, W., Zhu, H., Yang, W., Briggs, F. B., Carmichael, S. L., et al. (2009). 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med. Genet. 10:49. doi: 10.1186/1471-2350-10-49.
30. Shields, D. C., Kirke, P. N., Mills, J. L., Ramsbottom, D., Molloy, A. M., Burke, H., et al. (1999). The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: an evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am. J. Hum. Genet. 64, 1045-1055. doi: 10.1086/302310.
31. Stanislawska-Sachadyn, A., Brown, K. S., Mitchell, L. E., Woodside, J. V., Young, I. S., Scott, J. M., et al. (2008). An insertion/deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in women. Hum. Genet. 123, 289-295. doi: 10.1007/s00439-008-0475-y.
32. Sutton, M., Daly, L. E., and Kirke, P. N. (2008). Survival and disability in a cohort of neural tube defect births in Dublin, Ireland. Birth Defects Res. A. Clin. Mol. Teratol. 82, 701-709. doi: 10.1002/bdra.20498.
33. van der Put, N. M., Gabreels, F., Stevens, E. M., Smeitink, J. A., Trijbels, F. J., Eskes, T. K., et al. (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. doi: 10.1086/301825.
34. Wang, X. W., Luo, Y. L., Wang, W., Zhang, Y., Chen, Q., and Cheng, Y. L. (2012a). Association between MTHFR A1298C polymorphism and neural tube defect susceptibility: a metaanalysis. Am. J. Obstet. Gynecol. 206, 251.e1-7. doi: 10.1016/j.ajog.2011.12.021.
35. Wang, H. G., Wang, J. L., Zhang, J., Zhao, L. X., Zhai, G. X., Xiang, Y. Z., et al. (2012b). Reduced folate carrier A80G polymorphism and susceptibility to neural tube defects: a meta-analysis. Gene 510, 180-184. doi: 10.1016/j.gene.2012.02.020.
36. Whitehead, A. S., Gallagher, P., Mills, J. L., Kirke, P. N., Burke, H., Molloy, A. M., et al. (1995). A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects. QJM 88, 763-766.
37. Yan, L., Zhao, L., Long, Y., Zou, P., Ji, G., Gu, A., et al. (2012). Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies. PLoS ONE 7:e41689. doi: 10.1371/journal.pone.0041689.