Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non-syndromic cleft lip/palate in Mexican Mestizos

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 12, 2012, Pages 3207-3210

  Velázquez Aragón, José A ^a   Alcántara Ortigoza, Miguel A ^a   Estandia Ortega, Bernardette ^a   Reyna Fabián, Miriam E ^a   Cruz Fuentes, Carlos ^b   Villagómez, Sandra ^a   González del Angel, Ariadna ^a  

^a INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^b INSTITUTO NACIONAL DE PSIQUIATRÍA RAMÓN DE LA FUENTE MUÑIZ   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

FOLIC ACID;

ALLELE; ARTICLE; CASE CONTROL STUDY; CHILD; CHROMOSOME 8Q; CLEFT LIP PALATE; DNA POLYMORPHISM; FAMILY HISTORY; FEMALE; GENE; GENE INTERACTION; GENETIC VARIABILITY; GENOTYPE ENVIRONMENT INTERACTION; HAPLOTYPE; HUMAN; IRF6 GENE; MAJOR CLINICAL STUDY; MALE; MEXICO; MSX1 GENE; PRIORITY JOURNAL; PVRL1 GENE; TGFA GENE; TGFB3 GENE; VITAMIN INTAKE;

EID: 84870240624     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35641     Document Type: Article

References (14)

1. Ardinger HH, Buetow KH, Bell GI, Bardach J, VanDemark DR, Murray JC. 1989. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet 45: 348-353.
2. Avila JR, Jezewski PA, Vieira AR, Orioli IM, Castilla EE, Christensen K, Daack-Hirsch S, Romitti PA, Murray JC. 2006. PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am J Med Genet Part A 140A: 2562-2570.
3. Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, Almeida de Assis N, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Berge SJ, Reich RH, Schiefke F, Hemprich A, Potzsch S, Steegers-Theunissen RP, Potzsch B, Moebus S, Horsthemke B, Kramer FJ, Wienker TF, Mossey PA, Propping P, Cichon S, Hoffmann P, Knapp M, Nothen MM, Mangold E. 2009. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 41: 473-477.
4. Blanton SH, Burt A, Stal S, Mulliken JB, Garcia E, Hecht JT. 2010. Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol 88: 256-259.
5. Dixon MJ, Marazita ML, Beaty TH, Murray JC. 2011. Cleft lip and palate: Understanding genetic and environmental influences. Nat Rev Genet 12: 167-178.
6. Holder SE, Vintiner GM, Farren B, Malcolm S, Winter RM. 1992. Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and nonsyndromic cleft lip and palate. J Med Genet 29: 390-392.
7. Huang Y, Wu J, Ma J, Beaty TH, Sull JW, Zhu L, Lu D, Wang Y, Meng T, Shi B. 2009. Association between IRF6 SNPs and oral clefts in West China. J Dent Res 88: 715-718.
8. Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, Semina EV, Johnson LR, Machida J, Burds A, Parnell TJ, Rubenstein JL, Murray JC. 1998. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 63: 557-568.
9. Park J, Park BY, Kim HS, Lee JE, Suh I, Nam CM, Kang DR, Kim S, Yun JE, Go EN, Jee SH, Beaty TH. 2007. MSX1 polymorphism associated with risk of oral cleft in Korea: Evidence from case-parent trio and case-control studies. Yonsei Med J 48: 101-108.
10. Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC. 2008. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 40: 1341-1347.
11. Rojas-Martinez A, Reutter H, Chacon-Camacho O, Leon-Cachon RB, Munoz-Jimenez SG, Nowak S, Becker J, Herberz R, Ludwig KU, Paredes-Zenteno M, Arizpe-Cantu A, Raeder S, Herms S, Ortiz-Lopez R, Knapp M, Hoffmann P, Nothen MM, Mangold E. 2010. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25. Birth Defects Res A Clin Mol Teratol 88: 535-537.
12. Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, Carinci F. 2005. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet 76: 180-183.
13. Wu T, Liang KY, Hetmanski JB, Ruczinski I, Fallin MD, Ingersoll RG, Wang H, Huang S, Ye X, Wu-Chou YH, Chen PK, Jabs EW, Shi B, Redett R, Scott AF, Beaty TH. 2010. Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate. Hum Genet 128: 401-410.
14. Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. 2004. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351: 769-780.