Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex [2]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 22, 2006, Pages 2506-2509

  Reutter, Heiko ^a   Becker, Tim ^a   Ludwig, Michael ^a   Schäfer, Niklas ^a   Detlefsen, Birte ^e   Beaudoin, Sylvie ^b   Fisch, Margit ^c   Ebert, Anne Karoline ^d   Rösch, Wolfgang ^d   Nöthen, Markus M ^a   Boemers, Thomas M ^e   Betz, Regina C ^a  

^a UNIVERSITY OF BONN   (Germany)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c Asklepios Klinik Harburg   (Germany)

^d Barmherzige Brüder Hospital   (Germany)

^e Children's Hospital   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2);

ALLELE; AMINO ACID SUBSTITUTION; BLADDER EXSTROPHY; BLADDER EXSTROPHY EPISPADIAS COMPLEX; CLOACA; CONCEPTION; DNA POLYMORPHISM; ENZYME ACTIVITY; EPISPADIAS; FAMILY; FEMALE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INCIDENCE; LETTER; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BLADDER EXSTROPHY; DNA PRIMERS; EPISPADIAS; FEMALE; GENOTYPE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, GENETIC;

EID: 33750596983     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31484     Document Type: Letter

References (20)

1. Armitage P. 1955. Tests for linear trends in proportions and frequencies. Biometrics 11:375-386.
2. Botto LD, Yang Q. 2000. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review. Am J Epidemiol 151:802-877.
3. Botto LD, Mulinare J, Erickson JD. 2002. Occurrence of omphalocele in relation to maternal multivitarnin use: A population-based study. Pediatrics 109:904-918.
4. Boyadjiev SA, Dodson JL, Radford CL, Ashrafi GH, Beaty TH, Mathews RI, Broman KW, Gearhart JP. 2004. Clinical and molecular characterization of the bladder exstrophy-epispadias complex: Analysis of 232 families. BJU Int 94:1337-1343.
5. Boyadjiev SA, South ST, Radford CL, Patel A, Zhang G, Hur DJ, Thomas GH, Gearhart JP, Stetten G. 2005. A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9. Genomics 85:622-629.
6. Carey JC. 2001. Exstrophy of the cloaca and the OEIS complex: One and the same. Am J Med Genet 99:270.
7. Czeizel AE, Dudas I. 1992. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327:1832-1835.
8. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den Heijer M, Kluijtmans LAJ, van den Heuve LP, Rozen R. 1995. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113.
9. Guillen M, Portoles CD, Gonzalez JI, Mulet F, Saiz C. 2001. Prevalence of the methylenetetrahydrofolate reductase 677C > T mutation in the Mediterranean Spanish population. Association with cardiovascular risk factors. Eur J Epidemiol 17:255-261.
10. ICBDMS. 1987. Epidemiology of bladder exstrophy and epispadias: A communication from the International Clearinghouse for Birth Defects Monitoring Systems. Teratology 36:221-227.
11. Ludwig M, Utsch B, Reutter H. 2005. Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC). Urologe A 44:1037-1044.
12. Mills JL, Druschel CM, Pangilinan F, Pass K, Cox C, Seltzer RR, Conley MR, Brody LC. 2005. Folate-related genes and omphalocele. Am J Med Genet Part A 136A:8-11.
13. Pocock SJ, Geller NL, Tsiatis AA. 1987. The analysis of multiple endpoints in clinical trials. Biometrics 43:487-498.
14. Reutter H, Thauvin-Robinet C, Boemers TM, Rösch WH, Ludwig M. 2006a. Bladder exstrophy-epispadias complex: Investigation of suppressor of variegation, enhancer of zeste and Thrithorax (SET) as a candidate gene in a large cohort of patients. Scand J Urol Nephrol 40:221-224.
15. Reutter H, Betz RC, Ludwig M, Boemers TM. 2006b. MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: Implications of a mutual genetic risk factor? Eur J Pediatr 165:566-568.
16. Shaw GM, Rozen R, Finnell RH, Todoroff K, Lammer EJ. 1998. Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. Am J Med Genet 80:196-198.
17. Spielman RS, McGinnis RE, Ewens WJ. 1993. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516.
18. Thauvin-Robinet C, Faivre L, Cusin V, Khau Van Kien P, Callier P, Parker KL, Fellous M, Borgnon J, Gounot E, Huet F, Sapin E, Mugneret F. 2004. Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq. Am J Med Genet Part A 126A:303-307.
19. Van der Put NM, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, van den Heuvel LP, Mariman EC, den Heyer M, Rozen R, Blom HJ. 1995. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070-1071.
20. van Rooij IA, Ocke MC, Straatman H, Zielhuis GA, Merkus HM, Steegers-Theunissen RP. 2004. Periconceptional folate intake by supplement and food reduces the risk of nonsyndromic cleft lip with or without cleft palate. Prev Med 39:689-694.