The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
Open accessAbstract
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.
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PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280
Mossey, P. A., Little, J., Munger, R. G., Dixon, M. J., & Shaw, W. C. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60695-4 · Cited by 1,764
Self-citationImplementing a unified approach to family-based tests of association
Laird, N. M., Horvath, S., & Xu, X. (2000) · Genetic Epidemiology · doi:10.1002/1098-2272(2000)19:1+<::aid-gepi6>3.0.co;2-m · Cited by 856
Horvath, S., Xu, X., & Laird, N. M. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200625 · Cited by 739
Rabinowitz, D., & Laird, N. (2000) · Human Heredity · doi:10.1159/000022918 · Cited by 627
Interferon Regulatory Factor 6 ( IRF6 ) Gene Variants and the Risk of Isolated Cleft Lip or Palate
Zucchero, T. M., Cooper, M. E., Maher, B. S., Daack-Hirsch, S., Nepomuceno, B., Ribeiro, L., Caprau, D., Christensen, K., Suzuki, Y., Machida, J., et al. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa032909 · Cited by 579
Self-citationKey susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Birnbaum, S., Ludwig, K. U., Reutter, H., Herms, S., Steffens, M., Rubini, M., Baluardo, C., Ferrian, M., Almeida de Assis, N., Alblas, M. A., et al. (2009) · Nature Genetics · doi:10.1038/ng.333 · Cited by 471
Mangold, E., Ludwig, K. U., Birnbaum, S., Baluardo, C., Ferrian, M., Herms, S., Reutter, H., de Assis, N. A., Chawa, T. A., Mattheisen, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.506 · Cited by 431
Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip
Program, N. C. S., Rahimov, F., Marazita, M. L., Visel, A., Cooper, M. E., Hitchler, M. J., Rubini, M., Domann, F. E., Govil, M., Christensen, K., et al. (2008) · Nature Genetics · doi:10.1038/ng.242 · Cited by 425
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Kayser, M., & de Knijff, P. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2952 · Cited by 526
A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
Liu, F., van der Lijn, F., Schurmann, C., Zhu, G., Chakravarty, M. M., Hysi, P. G., Wollstein, A., Lao, O., de Bruijne, M., Ikram, M. A., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002932 · Cited by 326
Genetics of Nonsyndromic Orofacial Clefts
Rahimov, F., Jugessur, A., & Murray, J. C. (2012) · The Cleft Palate Craniofacial Journal · doi:10.1597/10-178 · Cited by 295
Self-citationYu, Y., Zuo, X., He, M., Gao, J., Fu, Y., Qin, C., Meng, L., Wang, W., Song, Y., Cheng, Y., et al. (2017) · Nature Communications · doi:10.1038/ncomms14364 · Cited by 264
Self-citationHigh-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
Wilderman, A., VanOudenhove, J., Kron, J., Noonan, J. P., & Cotney, J. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.03.129 · Cited by 139
Metadata
- 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.
- Venue
- Nature Genetics
- Published
- 2010-05-02
- Volume
- 42
- Issue
- 6
- Pages
- 525-529
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1968344288
- Cited by
- 584
- References
- 19
- FWCI
- 21.79
- Type
- journal article
- Language
- en
- Open access
- green
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- 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., . . . Scott, A. F. (2010). A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nature Genetics. https://doi.org/10.1038/ng.580
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