The reduced folate carrier (RFC-1) 80A>G polymorphism and maternal risk of having a child with down syndrome: A meta-analysis

Nutrients

Volumn 5, Issue 7, 2013, Pages 2551-2563

  Coppedè, Fabio ^a   Lorenzoni, Valentina ^b   Migliore, Lucia ^a  

^a UNIVERSITY OF PISA   (Italy)

^b SCUOLA SUPERIORE SANT ANNA   (Italy)

Author keywords

Down syndrome; Folate; Gene polymorphisms; Maternal risk; Meta analysis; Reduced folate carrier; RFC 1; RFC1 80A>G polymorphism; RFC1 A80G polymorphism; SLC19A1

Indexed keywords

REDUCED FOLATE CARRIER;

ALLELE; ARTICLE; CASE CONTROL STUDY; CONFIDENCE INTERVAL; DATA BASE; DNA POLYMORPHISM; DOWN SYNDROME; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; INFORMATION RETRIEVAL; META ANALYSIS (TOPIC); MOTHER; NUCLEIC ACID BASE SUBSTITUTION; RISK ASSESSMENT; STATISTICAL MODEL;

EID: 84879920677     PISSN: 20726643     EISSN: None     Source Type: Journal    
DOI: 10.3390/nu5072551     Document Type: Article

References (41)

1. Bailey, L.B.; Gregory, J.F., III. Folate metabolism and requirements. J. Nutr. 1999, 129, 779-782.
2. Zhao, R.; Matherly, L.H.; Goldman, D.I. Membrane transporters and folate homeostasis: Intestinal absorption and transport into systemic compartments and tissues. Expert Rev. Mol. Med. 2009, 11, e4.
3. Fenech, M. The role of folic acid and vitamin B12 in genomic stability of human cells. Mutat. Res. 2001, 475, 57-67.
4. Stanger, O. Physiology of folic acid in health and disease. Curr. Drug Metab. 2002, 3, 211-223.
5. Antonarakis, S.E. Down syndrome. In Principle of Molecular Medicine; Jameson, J.L., Ed.; Humana Press Inc.: Totowa, NJ, USA, 1998; pp. 1069-1078.
6. Lamb, N.E.; Freeman, S.B.; Savage-Austin, A.; Pettay, D.; Taft, L.; Hersey, J.; Gu, Y.; Shen, J.; Saker, D.; May, K.M.; et al. Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II. Nat. Genet. 1996, 14, 400-405.
7. Morris, J.K.; Mutton, D.E.; Alberman, E. Revised estimates of the maternal age specific live birth prevalence of Down's syndrome. J. Med. Screen. 2002, 9, 2-6.
8. Melamed-Bessudo, C.; Levy, A.A. Deficiency in DNA methylation increases meiotic crossover rates in euchromatic but not in heterochromatic regions in Arabidopsis. Proc. Natl. Acad. Sci. USA 2012, 109, E981-E988.
9. Yelina, N.E.; Choi, K.; Chelysheva, L.; Macaulay, M.; de Snoo, B.; Wijnker, E.; Miller, N.; Drouaud, J.; Grelon, M.; Copenhaver, G.P.; et al. Epigenetic remodeling of meiotic crossover frequency in Arabidopsis thaliana DNA methyltransferase mutants. PLoS Genet. 2012, 8, e1002844.
10. Colomé-Tatché, M.; Cortijo, S.; Wardenaar, R.; Morgado, L.; Lahouze, B.; Sarazin, A.; Etcheverry, M.; Martin, A.; Feng, S.; Duvernois-Berthet, E.; et al. Features of the Arabidopsis recombination landscape resulting from the combined loss of sequence variation and DNA methylation. Proc. Natl. Acad. Sci. USA 2012, 109, 16240-16245.
11. James, S.J.; Pogribna, M.; Pogribny, I.P.; Melnyk, S.; Hine, R.J.; Gibson, J.B.; Yi, P.; Tafoya, D.L.; Swenson, D.H.; Wilson, V.L.; et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am. J. Clin. Nutr. 1999, 70, 495-501.
12. Wang, X.; Thomas, P.; Xue, J.; Fenech, M. Folate deficiency induces aneuploidy in human lymphocytes in vitro-evidence using cytokinesis-blocked cells and probes specific for chromosomes 17 and 21. Mutat. Res. 2004, 551, 167-180.
13. Beetstra, S.; Thomas, P.; Salisbury, C.; Turner, J.; Fenech, M. Folic acid deficiency increases chromosomal instability, chromosome 21 aneuploidy and sensitivity to radiation-induced micronuclei. Mutat. Res. 2005, 578, 317-326.
14. Coppedè, F. The complex relationship between folate/homocysteine metabolism and risk of Down syndrome. Mutat. Res. 2009, 682, 54-70.
15. Medica, I.; Maver, A.; Augusto, G.F.; Peterlin, B. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome-Meta-analysis. Cent. Eur. J. Med. 2009, 4, 395-408.
16. Amorim, M.R.; Lima, M.A. MTRR 66A>G polymorphism as maternal risk factor for Down Syndrome: A meta-analysis. Genet. Test. Mol. Biomarkers 2013, 17, 69-73.
17. Wu, X.; Wang, X.; Chan, Y.; Jia, S.; Luo, Y.; Tang, W. Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: A meta-analysis. Eur. J. Obstet. Gynecol. Reprod. Biol. 2013, 167, 154-159.
18. Chango, A.; Emery-Fillon, N.; de Courcy, G.P.; Lambert, D.; Pfister, M.; Rosenblatt, D.S.; Nicolas, J.P. A polymorphism (80G>A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol. Genet. Metab. 2000, 70, 310-315.
19. Coppedè, F.; Marini, G.; Bargagna, S.; Stuppia, L.; Minichilli, F.; Fontana, I.; Colognato, R.; Astrea, G.; Palka, G.; Migliore, L. Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. Am. J. Med. Genet. A 2006, 140, 1083-1091.
20. Scala, I.; Granese, B.; Sellitto, M.; Salomè, S.; Sammartino, A.; Pepe, A.; Mastroiacovo, P.; Sebastio, G.; Andria, G. Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet. Med. 2006, 8, 409-416.
21. Wang, S.S.; Wang, C.; Qiao, F.Y.; Lv, J.J.; Feng, L. Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China. Arch. Gynecol. Obstet. 2013, in press.
22. Biselli, J.M.; Goloni-Bertollo, E.M.; Zampieri, B.L.; Haddad, R.; Eberlin, M.N.; Pavarino-Bertelli, E.C. Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: Maternal risk factors for Down syndrome in Brazil. Genet. Mol. Res. 2008, 7, 33-42.
23. Liao, Y.P.; Bao, M.S.; Liu, C.Q.; Liu, H.; Zhang, D. Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women. Yi Chuan 2010, 32, 461-466.
24. Brandalize, A.P.; Bandinelli, E.; Dos Santos, P.A.; Schüler-Faccini, L. Maternal gene polymorphisms involved in folate metabolism as risk factors for Down syndrome offspring in Southern Brazil. Dis. Markers 2010, 29, 95-101.
25. Chango, A.; Fillon-Emery, N.; Mircher, C.; Bléhaut, H.; Lambert, D.; Herbeth, B.; James, S.J.; Réthoré, M.O.; Nicolas, J.P. No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers. Br. J. Nutr. 2005, 94, 166-169.
26. Fintelman-Rodrigues, N.; Corrêa, J.C.; Santos, J.M.; Pimentel, M.M.; Santos-Rebouças, C.B. Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome. Dis. Markers 2009, 26, 155-161.
27. Neagos, D.; Cretu, R.; Tutulan-Cunita, A.; Stoian, V.; Bohiltea, L.C. RFC-1 gene polymorphism and the risk of Down syndrome in romanian population. Maedica (Buchar) 2010, 5, 280-285.
28. Stanisławska-Sachadyn, A.; Mitchell, L.E.; Woodside, J.V.; Buckley, P.T.; Kealey, C.; Young, I.S.; Scott, J.M.; Murray, L.; Boreham, C.A.; McNulty, H.; et al. The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women. Ann. Hum. Genet. 2009, 73, 484-491.
29. Zampieri, B.L.; Biselli, J.M.; Goloni-Bertollo, E.M.; Vannucchi, H.; Carvalho, V.M.; Cordeiro, J.A.; Pavarino, E.C. Maternal risk for Down syndrome is modulated by genes involved in folate metabolism. Dis. Markers 2012, 32, 73-81.
30. Lubec, G.; Bajo, M.; Cheon, M.S.; Bajova, H.; Matherly, L.H. Increased expression of human reduced folate carrier in fetal Down syndrome brain. J. Neural Transm. Suppl. 2003, 67, 95-103.
31. Höger, J.; Patterson, D.; Höger, H.; Shim, K.S.; Bubna-Littitz, H.; Lubec, G. Mice transgenic for reduced folate carrier: An animal model of Down syndrome? Amino Acids 2009, 36, 349-357.
32. Locke, A.E.; Dooley, K.J.; Tinker, S.W.; Cheong, S.Y.; Feingold, E.; Allen, E.G.; Freeman, S.B.; Torfs, C.P.; Cua, C.L.; Epstein, M.P.; et al. Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genet. Epidemiol. 2010, 34, 613-623.
33. Xavier, A.C.; Ge, Y.; Taub, J. Unique clinical and biological features of leukemia in Down syndrome children. Expert Rev. Hematol. 2010, 3, 175-186.
34. Biselli, J.M.; Brumati, D.; Frigeri, V.F.; Zampieri, B.L.; Goloni-Bertollo, E.M.; Pavarino-Bertelli, E.C. A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology. Sao Paulo Med. J. 2008, 126, 329-332.
35. Mantel, N.; Haenszel, W. Statistical aspect of the analysis of data from retrospective studies of disease. J. Natl. Cancer Inst. 1959, 22, 719-748.
36. DerSimonian, R.; Laird, N. Meta-analysis in clinical trials. Control. Clin. Trials 1986, 7, 177-188.
37. Higgins, J.P.; Thompson, S.J. Quantifying heterogeneity in a meta-analysis. Stat. Med. 2002, 21, 1539-1558.
38. Huedo-Medina, T.B.; Sanchez-Meca, J.; Martin-Martinez, F.; Botella, J. Assessing heterogeneity in meta-analysis: Q statistics or I2 index? Psychol. Methods 2006, 11, 193-202.
39. Egger, M.; Smith, G.D. Metaanalysis. Potentials and promise. BMJ 1997, 315, 1371-1374.
40. DerSimonian, R.; Kacker, R. Random-effects model for meta-analysis of clinical trials: An update. Contemp. Clin. Trials 2007, 28, 105-114.
41. Hollis, N.D.; Allen, E.G.; Oliver, T.R.; Tinker, S.W.; Druschel, C.; Hobbs, C.A.; O'Leary, L.A.; Romitti, P.A.; Royle, M.H.; Torfs, C.P.; et al. Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project. Am. J. Med. Genet. A 2013, 161, 438-444.