User menu

Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.

Bibliographic reference Goffinet, Laetitia ; Oussalah, Abderrahim ; Guéant-Rodriguez, Rosa-Maria ; Chery, Céline ; Basha, Mirta ; et. al. Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.. In: Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, Vol. 53, no.12, p. 828-834 (2016)
Permanent URL http://hdl.handle.net/2078.1/181321
  1. Perneger T. V, What's wrong with Bonferroni adjustments, 10.1136/bmj.316.7139.1236
  2. Zhu Huiping, Yang Wei, Lu Wei, Zhang Jing, Shaw Gary M., Lammer Edward J., Finnell Richard H., A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida, 10.1016/j.ymgme.2005.09.008
  3. Martinelli M., Carinci F., Morselli P.G., Palmieri A., Girardi A., Riberti C., Scapoli L., No Association between Polymorphisms in Cubilin, a Gene of the Homocysteine Metabolism and the Risk of Non-Syndromic Cleft Lip with or without Cleft Palate, 10.1177/03946320110240s203
  4. Gueant J.-L., Chabi N. W, Gueant-Rodriguez R.-M., Mutchinick O. M, Debard R., Payet C., Lu X., Villaume C., Bronowicki J.-P., Quadros E. V, Sanni A., Amouzou E., Xia B., Chen M., Anello G., Bosco P., Romano C., Arrieta H. R, Sanchez B. E, Romano A., Herbeth B., Anwar W., Namour F., Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2), 10.1136/jmg.2006.048041
  5. Namour F., Transcobalamin codon 259 polymorphism in HT-29 and Caco-2 cells and in Caucasians: relation to transcobalamin and homocysteine concentration in blood, 10.1182/blood.v97.4.1092
  6. Martinelli Marcella, Scapoli Luca, Palmieri Annalisa, Pezzetti Furio, Baciliero Ugo, Padula Ernesto, Carinci Paolo, Giovanni Morselli Paolo, Carinci Francesco, Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate, 10.1002/humu.9411
  7. Chevrier Cécile, Perret Claire, Bahuau Michel, Zhu Huiping, Nelva Agnès, Herman Christine, Francannet Christine, Robert-Gnansia Elisabeth, Finnell Richard H., Cordier Sylvaine, Fetal and maternalMTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts, 10.1002/ajmg.a.31462
  8. Blanton Susan H., Henry Robin R., Yuan Quiping, Mulliken John B., Stal Samuel, Finnell Richard H., Hecht Jacqueline T., Folate pathway and nonsyndromic cleft lip and palate, 10.1002/bdra.20740
  9. Gueant-Rodriguez, Am J Clin Nutr, 83, 701 (2006)
  10. Guéant Jean-Louis, Guéant- Rodriguez Rosa-Maria, Anello Guido, Bosco Paolo, Brunaud Laurent, Romano Corrado, Ferri Rafaele, Romano Antonino, Candito Mirande, Namour Bernard, Genetic Determinants of Folate and Vitamin B12 Metabolism: A Common Pathway in Neural Tube Defect and Down Syndrome?, 10.1515/cclm.2003.226
  11. De STEFANO V., DEKOU V., NICAUD V., CHASSE J. F., LONDON J., STANSBIE D., HUMPHRIES S. E., GUDNASON V., Linkage disequilibrium at the cystathionine β synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine, 10.1017/s0003480099007186
  12. Pare G., Chasman D. I., Parker A. N., Zee R. R.Y., Malarstig A., Seedorf U., Collins R., Watkins H., Hamsten A., Miletich J. P., Ridker P. M, Novel Associations of CPS1, MUT, NOX4, and DPEP1 With Plasma Homocysteine in a Healthy Population: A Genome-Wide Evaluation of 13 974 Participants in the Women's Genome Health Study, 10.1161/circgenetics.108.829804
  13. Boyles Abee L., Wilcox Allen J., Taylor Jack A., Meyer Klaus, Fredriksen Åse, Ueland Per Magne, Drevon Christian A., Vollset Stein Emil, Lie Rolv Terje, Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts, 10.1002/ajmg.a.32162
  14. Boyles Abee L., Wilcox Allen J., Taylor Jack A., Shi Min, Weinberg Clarice R., Meyer Klaus, Fredriksen Åse, Ueland Per Magne, Johansen Anne Marte W., Drevon Christian A., Jugessur Astanand, Trung Truc Nguyen, Gjessing Håkon K., Vollset Stein Emil, Murray Jeffrey C., Christensen Kaare, Lie Rolv T., Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study, 10.1002/gepi.20376
  15. Rubini Michele, Brusati Roberto, Garattini Giovanna, Magnani Cinzia, Liviero Fabio, Bianchi Fabrizio, Tarantino Enrico, Massei Alessandro, Pollastri Susanna, Carturan Sabrina, Amadori Alice, Bertagnin Elisa, Cavallaro Alessandra, Fabiano Anna, Franchella Andrea, Calzolari Elisa, Cystathionine beta-synthase c.844ins68 gene variant and non-syndromic cleft lip and palate, 10.1002/ajmg.a.30812
  16. Quéré Isabelle, Paul Véronique, Rouillac Christelle, Janbon Charles, London Jacqueline, Demaille Jacques, Kamoun Pierre, Dufier Jean-Louis, Abitbol Marc, Chassé Jean-François, Spatial and Temporal Expression of the Cystathionine β-Synthase Gene During Early Human Development, 10.1006/bbrc.1998.9079
  17. Lewontin, Genetics, 49, 49 (1964)
  18. Gabriel S. B., The Structure of Haplotype Blocks in the Human Genome, 10.1126/science.1069424
  19. Battaglia-Hsu S.-f., Akchiche N., Noel N., Alberto J.-M., Jeannesson E., Orozco-Barrios C. E., Martinez-Fong D., Daval J.-L., Gueant J.-L., Vitamin B12 deficiency reduces proliferation and promotes differentiation of neuroblastoma cells and up-regulates PP2A, proNGF, and TACE, 10.1073/pnas.0811794106
  20. Griffioen Pieter H., de Jonge Robert, van Zelst Bertrand D., Montserrate Brouns R., Lindemans Jan, Detection and allele-frequencies of the 833T>C, 844ins68 and a novel mutation in the cystathionine β-synthase gene, 10.1016/j.cccn.2004.11.019
  21. Romano Maurizio, G runs in Cystathionine β-Synthase c.833C/c.844_845ins68 mRNA are splicing silencers of pathogenic 3′ splice sites, 10.1016/j.bbagrm.2010.06.006
  22. Martinelli Marcella, Masiero Elena, Carinci Francesco, Morselli Paolo G., Pezzetti Furio, Scapoli Luca, New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate : CBS role in CL/P onset, 10.1111/j.1600-0722.2011.00824.x
  23. Han Yue, Pan Yongchu, Du Yifei, Tong Na, Wang Meilin, Zhang Zhengdong, Wan Linzhong, Wang Lin, Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Nonsyndromic Orofacial Clefts Susceptibility in a Southern Chinese Population, 10.1089/dna.2010.1185
  24. Wilcox A. J, Lie R. T., Solvoll K., Taylor J., McConnaughey D R., Abyholm F., Vindenes H., Vollset S. E., Drevon C. A, Folic acid supplements and risk of facial clefts: national population based case-control study, 10.1136/bmj.39079.618287.0b
  25. Copp Andrew J, Stanier Philip, Greene Nicholas DE, Neural tube defects: recent advances, unsolved questions, and controversies, 10.1016/s1474-4422(13)70110-8
  26. Leslie, Hum Mol Genet
  27. Ludwig Kerstin U, Mangold Elisabeth, Herms Stefan, Nowak Stefanie, Reutter Heiko, Paul Anna, Becker Jessica, Herberz Ruth, AlChawa Taofik, Nasser Entessar, Böhmer Anne C, Mattheisen Manuel, Alblas Margrieta A, Barth Sandra, Kluck Nadine, Lauster Carola, Braumann Bert, Reich Rudolf H, Hemprich Alexander, Pötzsch Simone, Blaumeiser Bettina, Daratsianos Nikolaos, Kreusch Thomas, Murray Jeffrey C, Marazita Mary L, Ruczinski Ingo, Scott Alan F, Beaty Terri H, Kramer Franz-Josef, Wienker Thomas F, Steegers-Theunissen Regine P, Rubini Michele, Mossey Peter A, Hoffmann Per, Lange Christoph, Cichon Sven, Propping Peter, Knapp Michael, Nöthen Markus M, Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci, 10.1038/ng.2360
  28. Hyoun Sara C., Običan Sarah G., Scialli Anthony R., Teratogen update: Methotrexate, 10.1002/bdra.23003
  29. Jentink J., Dolk H., Loane M. A., Morris J. K., Wellesley D., Garne E., de Jong-van den Berg L., , Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study, 10.1136/bmj.c6581
  30. Hernández-Díaz Sonia, Werler Martha M., Walker Alexander M., Mitchell Allen A., Folic Acid Antagonists during Pregnancy and the Risk of Birth Defects, 10.1056/nejm200011303432204
  31. Weingärtner Jens, Maile Sergei, Proff Peter, Reicheneder Claudia, Bienengräber Volker, Fanghänel Jochen, Gedrange Tomas, Secondary palatal closure in rats in association with relative maternofetal levels of folic acid, vitamin B12, and homocysteine, 10.1016/j.aanat.2006.10.006
  32. Tolarova M, PERICONCEPTIONAL SUPPLEMENTATION WITH VITAMINS AND FOLIC ACID TO PREVENT RECURRENCE OF CLEFT LIP, 10.1016/s0140-6736(82)91063-7
  33. Yang, Birth Defects Res A Clin Mol Teratol
  34. Shaw G.M, Wasserman C.R, O'Malley C.D, Tolarova M.M, Lammer E.J, Risks of orofacial clefts in children born to women using multivitamins containing folic acid periconceptionally, 10.1016/s0140-6736(95)92778-6
  35. PEER LYNDON A., STREAN LYON P., WALKER JOHN C., BERNHARD WILLIAM G., PECK GEORGE C., STUDY OF 400 PREGNANCIES WITH BIRTH OF CLEFT LIP-PALATE INFANTS : Protective Effect of Folic Acid and Vitamin B6 Therapy, 10.1097/00006534-195811000-00002
  36. Beaudin Anna E., Stover Patrick J., Insights into metabolic mechanisms underlying folate-responsive neural tube defects: A minireview, 10.1002/bdra.20553
  37. Guéant Jean-Louis, Namour Fares, Guéant-Rodriguez Rosa-Maria, Daval Jean-Luc, Folate and fetal programming: a play in epigenomics?, 10.1016/j.tem.2013.01.010
  38. Prevalence at Birth of Cleft Lip With or Without Cleft Palate: Data From the International Perinatal Database of Typical Oral Clefts (IPDTOC), 10.1597/09-217
  39. Aylsworth, Clin Plast Surg, 12, 533 (1985)
  40. http://www.who.int/genomics/anomalies/cumulative_data/en/ (accessed 23 May 2016).
  41. Fogh-Andersen, Acta Chir Scand, 94, 213 (1946)
  42. Mossey Peter A, Little Julian, Munger Ron G, Dixon Mike J, Shaw William C, Cleft lip and palate, 10.1016/s0140-6736(09)60695-4