Case-Control and Family-Based Association Studies of Novel Susceptibility Locus 8q24 in Nonsyndromic Cleft Lip with or Without Cleft Palate in a Southern Han Chinese Population Located in Guangdong Province

DNA and Cell Biology

Volumn 31, Issue 5, 2012, Pages 700-705

  Xu, Ming Yan ^a   Deng, Xiao Ling ^a   Tata, Laila Jal ^b   Han, Hui ^a   Chen, Xi He ^a   Liu, Ting Ying ^a   Chen, Qing Shan ^a   Yao, Xiao Wu ^a   Tang, Shi Jie ^a  

^a SHANTOU UNIVERSITY MEDICAL COLLEGE   (China)

^b NOTTINGHAM CITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CHILD; CHINESE; CHROMOSOME 8Q; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NONSYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE; POPULATION GENETICS; PRIORITY JOURNAL; SCHOOL CHILD;

CASE-CONTROL STUDIES; CHILD; CHINA; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 8; CLEFT LIP; CLEFT PALATE; DNA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; POLYMORPHISM, GENETIC; PROGNOSIS; RISK FACTORS; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 84861397998     PISSN: 10445498     EISSN: 15577430     Source Type: Journal    
DOI: 10.1089/dna.2011.1383     Document Type: Article

References (29)

1. Beaty, T.H., Hetmanski, J.B., Zeiger, J.S., Fan, Y.T., Liang, K.Y., VanderKolk, C.A., and McIntosh, I. (2002). Testing candidate genes for non-syndromic oral clefts using a case-parent trio design. Genet Epidemiol 22, 1-11. (Pubitemid 34019888)
2. Beaty, T.H., Murray, J.C., Marazita, M.L., Munger, R.G., Ruczinski, I., Hetmanski, J.B., Liang, K.Y., Wu, T., Murray, T., Fallin, M.D., Redett, R.A., Raymond, G., Schwender, H., Jin, S.C., Cooper, M.E., Dunnwald, M., Mansilla, M.A., Leslie, E., Bullard, S., Lidral, A.C., Moreno, L.M., Menezes, R., Vieira, A.R., Petrin, A., Wilcox, A.J., Lie, R.T., Jabs, E.W., Wu-Chou, Y.H., Chen, P.K., Wang, H., Ye, X., Huang, S., Yeow, V., Chong, S.S., Jee, S.H., Shi, B., Christensen, K., Melbye, M., Doheny, K.F., Pugh, E.W., Ling, H., Castilla, E.E., Czeizel, A.E., Ma, L., Field, L.L., Brody, L., Pangilinan, F., Mills, J.L., Molloy, A.M., Kirke, P.N., Scott, J.M., Arcos-Burgos, M., and Scott, A.F.(2010). A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42, 525-529.
3. Birnbaum, S., Ludwig, K.U., Reutter, H., Herms, S., Steffens, M., Rubini, M., Baluardo, C., Ferrian, M., de Assis, N.A., Alblas, M.A., Barth, S., Freudenberg, J., Lauster, C., Schmidt, G., Scheer, M., Braumann, B., Berge, S.J., Reich, R.H., Schiefke, F., Hemprich, A., Potzsch, S., Steegers-Theunissen, R.P., Potzsch, B., Moebus, S., Horsthemke, B., Kramer, F.J., Wienker, T.F., Mossey, P.A., Propping, P., Cichon, S., Hoffmann, P., Knapp, M.,Nothen, M.M., and 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, S.H., Burt, A., Stal, S., Mulliken, J.B., Garcia, E., and Hecht, J.T. (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. Braybrook, C., Doudney, K., Marcano, A.C., Arnason, A., Bjornsson, A., Patton, M.A., Goodfellow, P.J., Moore, G.E., and Stanier, P. (2001). The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet 29, 179-183. (Pubitemid 32952655)
6. Chen, J., Zheng, H., Bei, J.X., Sun, L., Jia, W.H., Li, T., Zhang, F., Seielstad, M., Zeng, Y.X., Zhang, X., and Liu, J. (2009). Genetic structure of the Han Chinese population revealed by genome-wide SNP variation. Am J Hum Genet 85, 775-785.
7. Choi, S.J., Marazita, M.L., Hart, P.S., Sulima, P.P., Field, L.L., McHenry, T.G., Govil, M., Cooper, M.E., Letra, A., Menezes, R., Narayanan, S., Mansilla, M.A., Granjeiro, J.M., Vieira, A.R., Lidral, A.C., Murray, J.C., and Hart, T.C. (2009). The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P. Eur J Hum Genet 17, 774-784.
8. Dai, L., Zhu, J., Mao, M., Li, Y., Deng, Y., Wang, Y., Liang, J., Tang, L., Wang, H., Kilfoy, B.A., Zheng, T., and Zhang, Y. (2010). Time trends in oral clefts in Chinese newborns: data from the Chinese National Birth Defects Monitoring Network. Birth Defects Res A Clin Mol Teratol 88, 41-47.
9. Gauderman, W.J. (2003). Candidate gene association analysis for a quantitative trait, using parent-offspring trios. Genet Epidemiol 25, 327-338. (Pubitemid 37486881)
10. Grant, S.F., Wang, K., Zhang, H., Glaberson, W., Annaiah, K., Kim, C.E., Bradfield, J.P., Glessner, J.T., Thomas, K.A., Garris, M., Frackelton, E.C., Otieno, F.G., Chiavacci, R.M., Nah, H.D., Kirschner, R.E., and Hakonarson, H. (2009). A Genome-Wide Association Study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr 155, 909-913.
11. Harville, E.W., Wilcox, A.J., Lie, R.T., Abyholm, F., and Vindenes, H. (2007). Epidemiology of cleft palate alone and cleft palate with accompanying defects. Eur J Epidemiol 22, 389-395. (Pubitemid 47052081)
12. Jugessur, A., Farlie, P.G., and Kilpatrick, N. (2009). The genetics of isolated orofacial clefts: from genotypes to subphenotypes. Oral Dis 15, 437-453.
13. Letra, A., Menezes, R., Granjeiro, J.M., and Vieira, A.R. (2007).Defining subphenotypes for oral clefts based on dental development. J Dent Res 86, 986-991.
14. Mangold, E., Ludwig, K.U., Birnbaum, S., Baluardo, C., Ferrian, M., Herms, S., Reutter, H., de Assis, N.A., Chawa, T.A., Mattheisen, M., Steffens, M., Barth, S., Kluck, N., Paul, A., Becker, J., Lauster, C., Schmidt, G., Braumann, B., Scheer, M., Reich, R.H., Hemprich, A., Potzsch, S., Blaumeiser, B., Moebus, S., Krawczak, M., Schreiber, S., Meitinger, T., Wichmann, H.E., Steegers-Theunissen, R.P., Kramer, F.J., Cichon, S., Propping, P., Wienker, T.F., Knapp, M., Rubini, M., Mossey, P.A., Hoffmann, P., and Nothen, M.M. (2010). Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet 42, 24-26.
15. Mossey, P., and Little, J. (2009). Addressing the challenges of cleft lip and palate research in India. Indian J Plast Surg 42 Suppl, S9-S18.
16. Mossey, P.A., Little, J., Munger, R.G., Dixon, M.J., and Shaw, W.C. (2009). Cleft lip and palate. Lancet 374, 1773-1785.
17. Mostowska, A., Hozyasz, K.K., Wojcicki, P., Biedziak, B., Paradowska, P., and Jagodzinski, P.P. (2010) Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population. Birth Defects Res A Clin Mol Teratol 88, 538-545.
18. Nikopensius, T., Ambrozaityte, L., Ludwig, K.U., Birnbaum, S., Jagomagi, T., Saag, M., Matuleviciene, A., Linkeviciene, L., Herms, S., Knapp, M., Hoffmann, P., Nothen, M.M., Kucinskas, V., Metspalu, A., and Mangold, E. (2009).Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients. Am J Med Genet A 149A, 2551-2553.
19. Rahimov, F., Marazita, M.L., Visel, A., Cooper, M.E., Hitchler, M.J., Rubini, M., Domann, F.E., Govil, M., Christensen, K., Bille, C., Melbye, M., Jugessur, A., Lie, R.T., Wilcox, A.J., Fitzpatrick, D.R., Green, E.D., Mossey, P.A., Little, J., Steegers-Theunissen, R.P., Pennacchio, L.A., Schutte, B.C., and Murray, J.C. (2008). Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 40, 1341-1347.
20. Riley, B.M., and Murray, J.C. (2007). Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. Am J Med Genet A 143A, 3228-3234. (Pubitemid 350274839)
21. Rojas-Martinez, A., Reutter, H., Chacon-Camacho, O., Leon-Cachon, R.B., Munoz-Jimenez, S.G., Nowak, S., Becker, J., Herberz, R., Ludwig, K.U., Paredes-Zenteno, M., Arizpe-Cantu, A., Raeder, S., Herms, S., Ortiz-Lopez, R., Knapp, M., Hoffmann, P., Nothen, M.M., and 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.
22. Sivertsen, A., Wilcox, A., Johnson, G.E., Abyholm, F., Vindenes, H.A., and Lie, R.T. (2008). Prevalence of major anatomic variations in oral clefts. Plast Reconstr Surg 121, 587-595. (Pubitemid 351642922)
23. Sozen, M.A., Suzuki, K., Tolarova, M.M., Bustos, T., Fernandez Iglesias, J.E., and Spritz, R.A. (2001). Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet 29, 141-142. (Pubitemid 32952649)
24. Spielman, R.S., and Ewens, W.J. (1996). The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 59, 983-989. (Pubitemid 26346336)
25. Spritz, R.A. (2001). The genetics and epigenetics of orofacial clefts. Curr Opin Pediatr 13, 556-560. (Pubitemid 34015528)
26. van den Boogaard, M.J., Dorland, M., Beemer, F.A., and van Amstel, H.K. (2000). MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 24, 342-343. (Pubitemid 30187429)
27. Vieira, A.R., Orioli, I.M., Castilla, E.E., Cooper, M.E., Marazita, M.L., and Murray, J.C. (2003). MSX1 and TGFB3 contribute to clefting in South America. J Dent Res 82, 289-292. (Pubitemid 41766026)
28. Xu, M.Y., Hong, K.X., Deng, X.L., Li, J., Peng, H., Ruan, Y.H., Qin, G.M., Xing, H., Xu, X.H., and Shao, Y.M. (2004). Association of HLA-B alleles with human immunodeficiency virus type 1 infection in the Yi ethnic group in Sichuan province. Biomed Environ Sci 17, 203-208. (Pubitemid 39107841)
29. 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. (Pubitemid 39095312)