Please use this identifier to cite or link to this item: https://doi.org/10.1038/ng.580
Title: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Authors: 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.
Scott, A.F.
Issue Date: Jun-2010
Citation: 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., Scott, A.F. (2010-06). A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nature Genetics 42 (6) : 525-529. ScholarBank@NUS Repository. https://doi.org/10.1038/ng.580
Abstract: Case-parent trios were used in a genome-wide association study of cleft lip with and without cleft palate. SNPs near two genes not previously associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, with odds ratio (OR) per minor allele = 0.704, 95% CI 0.635-0.778, P = 1.44 × 10-11; and ABCA4, most significant SNP rs560426, with OR = 1.432, 95% CI 1.292-1.587, P = 5.01 × 10-12) and two previously identified regions (at chromosome 8q24 and IRF6) attained genome-wide significance. Stratifying trios into European and Asian ancestry groups revealed differences in statistical significance, although estimated effect sizes remained similar. Replication studies from several populations showed confirming evidence, with families of European ancestry giving stronger evidence for markers in 8q24, whereas Asian families showed stronger evidence for association with MAFB and ABCA4. Expression studies support a role for MAFB in palatal development. © 2010 Nature America, Inc. All rights reserved.
Source Title: Nature Genetics
URI: http://scholarbank.nus.edu.sg/handle/10635/125594
ISSN: 10614036
DOI: 10.1038/ng.580
Appears in Collections:Staff Publications

Show full item record
Files in This Item:
There are no files associated with this item.

SCOPUSTM   
Citations

308
checked on Jul 24, 2019

WEB OF SCIENCETM
Citations

301
checked on Jul 16, 2019

Page view(s)

33
checked on Jul 19, 2019

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.