Urinary tract anomalies associated with MTHFR gene polymorphism C677T in girls

Kidney and Blood Pressure Research

Volumn 34, Issue 6, 2011, Pages 465-471

  Behunova, Jana ^a   Klimcakova, Lucia ^b   Podracka, Ludmila ^a  

^a L PASTEUR UNIVERSITY HOSPITAL   (Slovakia)

^b P J AFÁRIK UNIVERSITY   (Slovakia)

Author keywords

A1298C; C677T; Methylation; MTHFR; Sex differences; Urinary tract anomalies

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CONTROLLED STUDY; DNA METHYLATION; FEMALE; FOLATE METABOLISM; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN; PRIORITY JOURNAL; SEX DIFFERENCE; URINARY TRACT MALFORMATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA METHYLATION; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, GENETIC; SEX CHARACTERISTICS; URINARY TRACT; YOUNG ADULT;

EID: 81155158073     PISSN: 14204096     EISSN: 14230143     Source Type: Journal    
DOI: 10.1159/000329935     Document Type: Article

References (48)

1. Prevention of neural tube defects: Results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group. Lancet 1991; 338: 131-137.
2. Berry RJ, Li Z, Erickson JD, Li S, Moore CA, Wang H, Mulinare J, Zhao P, Wong LY, Gindler J, Hong SX, Correa A: Prevention of neural-tube defects with folic acid in China. N Engl J Med 1999; 341: 1485-1490.
3. Czeizel AE: Prevention of congenital abnormalities by periconceptional multivitamin supplementation. BMJ 1993; 306: 1645-1648.
4. Shaw GM, Lammer EJ, Wasserman CR, O'Malley CD, Tolarova MM: Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally. Lancet 1995; 396: 393-396.
5. Shaw GM, O'Malley CD, Wasserman CR, Tolarova MM, Lammer EJ: Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. Am J Med Genet 1995; 59: 536-545.
6. Botto LD, Khoury MJ, Mulinare J, Erickson JD: Periconceptional multivitamin use and the occurrence of conotruncal heart defects: Results from a population-based, case-control study. Pediatrics 1996; 98: 911-917.
7. Goh I, Bollano E, Einarson TR, Koren G: Prenatal multivitamin supplementation and rates of congenital anomalies: A meta-analysis. J Obstet Gynaecol Can 2006; 28: 680-689.
8. Czeizel AE: Periconceptional folic acid and multivitamin supplementation for the prevention of neural tube defects and other congenital abnormalities. Birth Defects Rese A Clin Mol Teratol 2009; 85: 260-268.
9. Jugessur A, Wilcox AJ, Lie RT, Murray JC, Taylor JA, Ulvik A, Drevon CA, Vindenes HA, Åbyholm FE: Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. Am J Epidemiol 2003; 157: 1083-1091.
10. Boyles AL, Wilcox AJ, Taylor JA, Meyer K, Fredriksen Å, Ueland PM, Drevon CA, Vollset SE, Lie RT: Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. Am J Med Genet A 2008; 146: 440-449.
11. Mills JL, Molloy AM, Parle-McDermott A, Troendle JF, Brody LC, Conley MR, Cox C, Pangilinan F, Orr DJ, Earley M, McKiernan E, Lynn EC, Doyle A, Scott JM, Kirke PN: Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. Birth Defects Res A Clin Mol Teratol 2008; 82: 636-643.
12. Storti S, Vittorini S, Lascone MR, Sacchelli M, Collavoli A, Ripoli A, Cocchi G, Biagini A, Clerico A: Association between 5,10- methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Clin Chem Lab Med 2003; 41: 276-280.
13. Hobbs CA, James SJ, Parsian A, Krakowiak PA, Jernigan S, Greenhaw JJ, Lu Y, Cleves MA: Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene. J Med Genet 2006; 43: 162-166.
14. Shaw GM, Lu W, Zhu H, Yang W, Briggs FBS, Carmichael SL, Barcellos LF, Lammer EJ, Finnell RH: 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med Genet 2009; 10: 49.
15. Botto LD, Yang Q: 5,10-methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE Review. Am J Epidemiol 2000; 151: 862-877.
16. Van Beynum IM, den Heijer M, Blom HJ, Kapusta L: The MTHFR 677C- 1 T polymorphism and the risk of congenital heart defects: A literature review and meta-analysis. QJM 2007; 100: 743-753.
17. Kang SS, Wong PWK, Susmano A, Sora J, Norusis M, Ruggie N: Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease. Am J Hum Genet 1991; 48: 536-545.
18. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Mathews RG, Boers GJH, den Heijer M, Kluijtmans LAJ, van den Heuvel LP, Rozen R: A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10: 111-113.
19. Ashfield-Watt PAL, Pullin CH, Whiting JM, Clark ZE, Moat SJ, Newcombe RG, Burr ML, Lewis MJ, Powers HJ, McDowell IFW: Methylenetetrahydrofolate reductase 677C- 1 T genotype modulates homocysteine responses to a folate-rich diet or a low-dose folic acid supplement: A randomized controlled trial. Am J Clin Nutr 2002; 76: 180-186.
20. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R: A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 1998; 64: 169-172.
21. Van der Put NMJ, Gabreëls F, Stevens EMB, Smeitink JAM, Trijbels FJM, Eskes TKAB, Van den Heuvel LP, Blom HJ: A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural tube defects? Am J Hum Genet 1998; 62: 1044-1051.
22. Dunlevy LP, Burren KA, Mills K, Chitty LS, Copp AJ, Greene ND: Integrity of the methylation cycle is essential for mammalian neural tube closure. Birth Defects Res A Clin Mol Teratol 2006; 76: 544-552.
23. Van der Linden IJ, Heil SG, van Egmont Petersen M, van Straaten HW, den Heijer M, Blom HJ: Inhibition of methylation and changes in gene expression in relation to neural tube defects. Birth Defects Res A Clin Mol Teratol 2008; 82: 676-683.
24. Blom HJ: Folic acid, methylation and neural tube closure in humans. Birth Defects Res A Clin Mol Teratol 2009; 85: 295-302.
25. Kaminsky Z, Wang SC, Petronis A: Complex disease, gender and epigenetics. Ann Med 2006; 38: 530-544.
26. Kwong WY, Miller DJ, Wilkins AP, Dear MS, Wright JN, Osmond C, Zhang J, Fleming TP: Maternal low protein diet restricted to the preimplantation period induces a genderspecific change on hepatic gene expression in rat fetuses. Mol Reprod Dev 2007; 74: 48-56.
27. Vigé A, Gallou-Kabani C, Junien C: Sexual dimorphism in non-Mendelian inheritance. Pediatr Res 2008; 63: 340-347.
28. Behunova J, Klimcakova L, Zavadilikova E, Potocekova D, Sykora P, Podracka L: Methylenetetrahydrofolate reductase gene polymorphisms and neural tube defects epidemiology in the Slovak population. Birth Defects Res A Clin Mol Teratol 2010; 88: 695-700.
29. Li DK, Daling JR, Mueller BA, Hickok DE, Fantel AG, Weiss NS: Periconceptional multivitamin use in relation to the risk of congenital urinary tract anomalies. Epidemiology 1995; 6: 212-218.
30. Werler MM, Hayes C, Louik C, Shapiro S, Mitchell AA: Multivitamin supplementation and risk of birth defects. Am J Epidemiol 1999; 150: 675-682.
31. Karas-Kuzelicki N, Milek M, Mlinaric- Rascan I: MTHFR and TYMS genotypes influence TPMT activity and its differential modulation in males and females. Clin Biochem 2010; 43: 37-42.
32. Rozen R, Fraser FC, Shaw G: Decreased proportion of female newborn infants homozygous for the 677C-T mutation in methylenetetrahydrofolate reductase. Am J Med Genet 1999; 83: 142-143.
33. Satlin LM, Guay-Woodford L, Chevalier RL: Proceedings of the Eighth International Workshop on Developmental Nephrology: Genes, morphogenesis, and function. The sessions. Pediatr Nephrol 2003; 18: 174-195.
34. Chen F: Genetic and developmental basis for urinary tract obstruction. Pediatr Nephrol 2009; 24: 1621-1632.
35. Grote D, Boualia SK, Souabni A, Merkel C, Chi X, et al: Gata3 acts downstream of betacatenin signaling to prevent ectopic metanephric kidney Induction. PLoS Genet 2008; 4:e1000316.
36. Bates CM: Role of fibroblast growth factor receptor signaling in kidney development. Pediatr Nephrol 2007; 22: 343-349.
37. Michos O, Goņalves A, Lopez-Rios J, Tiecke E, Naillat F, Beier K, Galli A, Vainio S, Zeller R: Reduction of BMP4 activity by gremlin 1 enables ureteric bud outgrowth and GDNF/ WNT11 feedback signalling during kidney branching morphogenesis. Development 2007; 134: 2397-2405.
38. Miyazaki Y, Oshima K, Fogo A, Ichikawa I: Evidence that bone morphogenetic protein 4 has multiple biological functions during kidney and urinary tract development. Kidney Int 2003; 63: 835-844.
39. Basson MA, Akbulut S, Watson-Johnson J, Simon R, Carroll TJ, Shakya R, Gross I, Martin GR, Lufkin T, McMahon AP, Wilson PD, Costantini FD, Mason IJ, Licht JD: Sprouty1 is a critical regulator of GDNF/RET-mediated kidney induction. Dev Cell 2005; 8: 229-239.
40. Uetani N, Bouchard M: Plumbing in the embryo: Developmental defects of the urinary tracts. Clin Genet 2009; 75: 307-317.
41. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL: NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet 2007; 3:e80.
42. Stahl DA, Koul HK, Chacko JK, Mingin GC: Congenital anomalies of the kidney and urinary tract (CAKUT): A current review of cell signaling processes in ureteral development. J Pediatr Urol 2006; 2: 2-9.
43. Ormond G, Nieuwenhuijsen MJ, Nelson P, Toledano MB, Iszatt N, Geneletti S, Elliott P: Endocrine disruptors in the workplace, hair spray, folate supplementation, and risk of hypospadias: Case-control study. Environ Health Perspect 2009; 117: 303-307.
44. Beaudin AE, Stover PJ: Insights into metabolic mechanisms underlying folate-responsive neural tube defects: A minireview. Birth Defects Res A Clin Mol Teratol 2009; 85: 274-284.
45. Bourc'his D, Proudhon C: Sexual dimorphism in parental imprint ontogeny and contribution to embryonic development. Mol Cell Endocrinol 2008; 282: 87-94.
46. Farthing CR, Ficz G, Ng RK, Chan CF, Andrews S, Dean W, Hemberger M, Reik W: Global mapping of DNA methylation in mouse promoters reveals epigenetic reprogramming of pluripotency genes. PLoS Genet 2008;4:e1000116.
47. Zeisel SH: Importance of methyl donors during reproduction. Am J Clin Nutr 2009; 89: 673S-677S.
48. Deak KL, Siegel DG, George TM, Gregory S, Ashley-Koch A, Speer MC, NTD Collaborative Group: 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 2008; 82: 662-669.