Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in Western China

DNA and Cell Biology

Volumn 29, Issue 1, 2010, Pages 25-32

  Jia, Zhong Lin ^a   Li, Yang ^a   Chen, Chun Hui ^a   Li, Sheng ^a   Wang, Yan ^a   Zheng, Qian ^a   Shi, Bing ^a  

^a SICHUAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

FOLIC ACID; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 9; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CLEFT LIP FACE PALATE; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; FAMILY; FEMALE; FIRST TRIMESTER PREGNANCY; GENE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; INCIDENCE; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; MOTHER; MYOSIN HEAVY CHAIN 9 GENE; PASSIVE SMOKING; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; SUPPLEMENTATION;

CLEFT LIP; CLEFT PALATE; ENVIRONMENT; FEMALE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MOLECULAR MOTOR PROTEINS; MYOSIN HEAVY CHAINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TOBACCO SMOKE POLLUTION; VITAMINS;

EID: 74049126479     PISSN: 10445498     EISSN: None     Source Type: Journal    
DOI: 10.1089/dna.2009.0935     Document Type: Article

References (35)

1. Birnbaum, S., Reutter, H., Mende, M., de Assis, N.A., Diaz-Lacava, A., Herms, S., Scheer, M., Lauster, C., Braumann, B., Schmidt, G., Martini, M., Hemprich, A., Pötzsch, S., Knapp, M., Nöthen, M.M., Kramer, F.-J., and Mangold, E. (2009). Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. Eur J Oral Sci 117, 200-203.
2. Blanton, S.H., Cortez, A., Stal, S., Mulliken, J.B., Finnell, R.H., and Hecht, J.T. (2005). Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am J Med Genet 137A, 259-262.
3. Brett, T.C., Syed, S.H., Robin, H., Amber, B., John, B.M., Samuel, S., Molly, B., Susan, H.B., and Jacqueline, T.H. (2008). Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. Eur J Hum Genet 149, 1-10.
4. Canfield, M.A., Honein, M.A., Yuskiv, N., Xing, J., Mai, C.T., Collins, J.S., Devine, O., Petrini, J., Ramadhani, T.A., Hobbs, C.A., and Kirby, R.S. (2006). National estimates and race/ ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol 76, 747-756.
5. Field, L.L., Ray, A.K., Cooper, M.E., Goldstein, T., Shaw, D.F., and Marazita, M.L. (2002). Genome scan for loci involved in cleft lip with or without cleft palate in Chinese multiplex families. Am J Hum Genet 71, 349-364.
6. Field, L.L., Ray, A.K., Cooper, M.E., Goldstein, T., Shaw, D.F., and Marazita, M.L. (2004). Genome scan for loci involved in nonsyndromic cleft lip with or without cleft palate in families from West Bengal, India. Am J Med Genet A 130, 265-271. (Pubitemid 39313227)
7. Gorlin, R.J., Cohen, M.M., and Hennekam, R.C.M. (2001). Syndromes of the Head and Neck (Oxford University Press, NY).
8. Grewal, J., Carmichael, S.L., Ma, C., Lammer, E.J., and Shaw, G.M. (2008). Maternal periconceptional smoking and alcohol consumption and risk for select congenital anomalies. Birth Defects Research A 82, 519-526.
9. Hashmi, S.S., Waller, D.K., Langlois, P., Canfield, M., and Hecht, J.T. (2005). Prevalence of nonsyndromic oral clefts in Texas: 1995-1999. Am J Med Genet A 134, 368-372.
10. Horvath, S., Xu, X., and Laird, N.M. (2001). The family based association test method: strategies for studying general genotypephenotype associations. Eur J Hum Genet 9, 301-306.
11. Jia, Z.-L., Li, Y., Li, L., Wu, J., Zhu, L.-Y., Yang, C., Chen, C.-H., and Shi, B. (2009). Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western China. DNA Cell Biol 28, 249-257.
12. Johnson, C.Y., and Little, J. (2008). Folate intake, markers of folate status and oral clefts: is the evidence converging? Int J Epidemiol 37, 1041-1058.
13. Jugessur, A., and Murray, J.C. (2005). Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 15, 270-278.
14. Kondo, S., Schutte, B.C., Richardson, R.J., Bjork, B.C., Knight, A.S., Watanabe, Y., Howard, E., de Lima, R.L., Daack-Hirsch, S., Sander, A., McDonald-McGinn, D.M., Zackai, E.H., Lammer, E.J., Aylsworth, A.S., Ardinger, H.H., Lidral, A.C., Pober, B.R., Moreno, L., Arcos-Burgos, M., Valencia, C., Houdayer, C., Bahuau, M., Moretti-Ferreira, D., Richieri-Costa, A., Dixon, M.J., and Murray, J.C. (2002). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32, 285-289.
15. Little, J., Cardy, A., Arslan, M.T., Gilmour, M., and Mossey, P.A. (2004). Smoking and orofacial clefts: a United Kingdom-based case-control study. Cleft Palate Craniofac J 41, 381-386.
16. Marazita, M.L., Field, L.L., Tuncbilek, G., Cooper, M.E., Goldstein, T., and Gursu, K.G. (2004a). Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey. Am J Med Genet A 126, 111-122. (Pubitemid 38445466)
17. Marazita, M.L., Lidral, A.C., Murray, J.C., Field, L.L., Maher, B.S., McHenry, T.G., Cooper, M.E., Govil, M., Hirsch, S.D., Riley, B., Jugessur, A., Felix, T., Moreno, L., Mansilla, M.A., Vieira, A.R., Doheny, K., and Pugh, E., Valencia-Ramirez, C. (2009). Genome scan, fine-mapping, and candidate gene analysis of nonsyndromic cleft lip with or without cleft palate reveals phenotype specific differences in linkage and association results. Hum Hered 68, 151-170.
18. Hejazi, H., Beaty, T.H., McIntosh, I., Hetmanski, J.B., Tunçbilek, G., Edwards, M., Harkin, L., Scott, R., and Roddick, L.G. (2004b). Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.AmJ Hum Genet 75, 161-173.
19. Marigo, V., Nigro, A., Pecci, A., Montanaro, D., Di Stazio, M., Balduini, C.L., and Savoia, A. (2004). Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains. Genomics 83, 1125-1133.
20. Martinelli, M., Di Stazio, M., Scapoli, L., Marchesini, J., Di Bari, F., Pezzetti, F., Carinci, F., Palmieri, A., Carinci, P., and Savoia, A. (2007). Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA. J Med Genet 44, 387-392.
21. Michella, G., Benedicte, B., Nicole, R., Christine, V., Yves, G., Romain, V., and Miikka, V. (2005). Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. Eur J Hum Genet 13, 1239-1242.
22. Munger, R.G., Romitti, P.A., Daack-Hirsch, S., Burns, T.L., Murray, J.C., and Hanson, J. (1996). Maternal alcohol use and risk of orofacial cleft birth defects. Teratology 54, 27-33.
23. Nandor, A., Ferenc, B., Erzsebet, H., and Czeizel, A. (2006). Population-based case-control study of the common cold during pregnancy and congenital abnormalities. Eur J Epidemiol 21, 65-75. (Pubitemid 43188733)
24. Park, J.W., McIntosh, I., Hetmanski, J.B., Jabs, E.W., Vander Kolk, C.A., Wu-Chou, Y.H., Chen, P.K., Chong, S.S., Yeow, V., Jee, S.H., Park, B.Y., Fallin, M.D., Ingersoll, R., Scott, A.F., and Beaty, T.H. (2007). Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genet Med 9, 219-227.
25. Prescott, N.J., Lees, M.M., Winter, R.M., and Malcolm, S. (2000). Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet 106, 345-350.
26. Radhakrishna, U., Ratnamala, U., Gaines, M., Beiraghi, S., Hutchings, D., Golla, J., Husain, S.A., Gambhir, P.S., Sheth, J.J., Sheth, F.J., Chetan, G.K., Naveed, M., Solanki, J.V., Patel, U.C., Master, D.C., Memon, R., Antonarakis, G.S., Antonarakis, S.E., and Nath, S.K. (2006). Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at13q33.1-34. Am J Hum Genet 79, 580-585.
27. Riley, B.M., Schultz, R.E., Cooper, M.E., Goldstein-McHenry, T., Daack-Hirsch, S., Lee, K.T., Dragan, E., Vieira, A.R., Lidral, A.C., Marazita, M.L., and Murray, J.C. (2007). A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. Am J Med Genet A 143, 846-852.
28. Romitti, P.A., Lidral, A.C., Munger, R.G., Daack-Hirsch, S., Burns, T.L., and Murray, J.C. (1999). Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: Evalutation of genotype environment interactions from a population-based casecontrol study of orofacial clefts. Teratology 59, 39-50.
29. Scapoli, L., Palmieri, A., Martinelli, M., Pezzetti, F., Carinci, P., Tognon, M., and 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.
30. Shaw, G.M., Iovannisci, D.M., Yang, W., Finnell, R.H., Carmichael, S.L., Cheng, S., and Lammer, E.J. (2005). Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts. Am J Epidemiol 162, 1207-1214.
31. Shaw, G.M., and Lammer, E.J. (1999). Maternal periconceptional alcohol consumption and risk for orofacial clefts. J Pediatr 134, 298-303.
32. Wang, S.J., Beaty, T.H., Panny, S.R., Street, N.A., Joseph, J.M., Gordon, S., McIntosh, I., and Francomano, C.A. (1995). Association study of transforming growth factor alpha Taq polymorphism and oral cleft: indication of gene environment interaction in a population based sample of infants with birth defects. Am J Epidemiol 141, 629-636.
33. Wyszynski, D. (2002). Cleft Lip and Palate: From Origin to Treatment (Oxford University Press, Oxford).
34. Wyszynski, D.F., Albacha-Hejazi, H., Aldirani, M., Hammod, M., Shkair, H., Karam, A., Alashkar, J., Holmes, T.N., Pugh, E.W., Doheny, K.F., McIntosh, I., Beaty, T.H., and Bailey-Wilson, J.E. (2003). A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families. Am J Med Genet 123A, 140-147.
35. Zucchero, T.M., Cooper, M.E., Maher, B.S., Daack-Hirsch, S., Nepomuceno, B., Ribeiro, L., Caprau, D., Christensen, K., Suzuki, Y., Machida, J., Natsume, N., Yoshiura, K., Vieira, A.R., Orioli, I.M., Castilla, E.E., Moreno, L., Arcos-Burgos, M., Lidral, A.C., Field, L.L., Liu, Y.E., Ray, A., Goldstein, T.H., Schultz, R.E., Shi, M., Johnson, M.K., Kondo, S., Schutte, B.C., Marazita, M.L., and Murray, J.C. (2004). Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351, 769-780.