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Volume 49 Issue 9
Sep.  2022
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Article Contents

Genome-wide analyses of nonsyndromic cleft lip with or without palate identify 20 new risk loci in the Chinese Han population

doi: 10.1016/j.jgg.2022.02.004
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This work was funded by the National Natural Science Foundation of China (81970904 to MH, 81970923 to ZB), Anhui Institute of Translational Medicine (ZHYX2020A005 to LS), the University Synergy Innovation Program of Anhui Province (GXXT-2020-064 to LS), Clinical medicine discipline construction project of Anhui Medical University (2021lcxk008 to LS), and the National Key Research and Development Program (2016YFC1000505 to ZB).

  • Received Date: 2021-09-27
  • Accepted Date: 2022-02-13
  • Rev Recd Date: 2022-01-16
  • Publish Date: 2022-02-22
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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., et al., 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.
    Beaty, T.H., Taub, M.A., Scott, A.F., Murray, J.C., Marazita, M.L., Schwender, H., Parker, M.M., Hetmanski, J.B., Balakrishnan, P., Mansilla, M.A., et al., 2013. Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study. Hum. Genet. 132, 771-781.
    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. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat. Genet. 41, 473-477.
    Butali, A., Mossey, P.A., Adeyemo, W.L., Eshete, M.A., Gowans, L.J.J., Busch, T.D., Jain, D., Yu, W., Huan, L., Laurie, C.A., et al., 2019. Genomic analyses in african populations identify novel risk loci for cleft palate. Hum. Mol. Genet. 28, 1038-1051.
    Dixon, M.J., Marazita, M.L., Beaty, T.H.,Murray, J.C., 2011. Cleft lip and palate:Understanding genetic and environmental influences. Nat. Rev. Genet. 12, 167-178.
    Fu, X., Xu, J., Chaturvedi, P., Liu, H., Jiang, R.,Lan, Y., 2017. Identification of osr2 transcriptional target genes in palate development. J. Dent. Res. 96, 1451-1458.
    He, M., Zuo, X., Liu, H., Wang, W., Zhang, Y., Fu, Y., Zhen, Q., Yu, Y., Pan, Y., Qin, C., et al., 2020. Genome-wide analyses identify a novel risk locus for nonsyndromic cleft palate. J. Dent. Res. 99, 1461-1468.
    Huang, L., Jia, Z., Shi, Y., Du, Q., Shi, J., Wang, Z., Mou, Y., Wang, Q., Zhang, B., Wang, Q., et al., 2019. Genetic factors define cpo and clo subtypes of nonsyndromicorofacial cleft. PLoS Genet. 15, e1008357.
    Leslie, E.J., Carlson, J.C., Shaffer, J.R., Feingold, E., Wehby, G., Laurie, C.A., Jain, D., Laurie, C.C., Doheny, K.F., McHenry, T., et al., 2016. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. Hum. Mol. Genet. 25, 2862-2872.
    Ludwig, K.U., Ahmed, S.T., Bohmer, A.C., Sangani, N.B., Varghese, S., Klamt, J., Schuenke, H., Gultepe, P., Hofmann, A., Rubini, M., et al., 2016. Meta-analysis reveals genome-wide significance at 15q13 for nonsyndromic clefting of both the lip and the palate, and functional analyses implicate grem1 as a plausible causative gene. PLoS Genet. 12, e1005914.
    Ludwig, K.U., Mangold, E., Herms, S., Nowak, S., Reutter, H., Paul, A., Becker, J., Herberz, R., AlChawa, T., Nasser, E., et al., 2012. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat. Genet. 44, 968-971.
    Mangold, E., Bohmer, A.C., Ishorst, N., Hoebel, A.K., Gultepe, P., Schuenke, H., Klamt, J., Hofmann, A., Golz, L., Raff, R., et al., 2016. Sequencing the grhl3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate. Am. J. Hum. Genet. 98, 755-762.
    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. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat. Genet. 42, 24-26.
    Mossey, P.A., Little, J., Munger, R.G., Dixon, M.J.,Shaw, W.C., 2009. Cleft lip and palate. Lancet 374, 1773-1785.
    Mostowska, A., Gaczkowska, A., Zukowski, K., Ludwig, K.U., Hozyasz, K.K., Wojcicki, P., Mangold, E., Bohmer, A.C., Heilmann-Heimbach, S., Knapp, M., et al., 2018. Common variants in dlg1 locus are associated with non-syndromic cleft lip with or without cleft palate. Clin. Genet. 93, 784-793.
    Santos, M.C., Silva, P.B., Rodini, C.O., Furukawa, G., Marco Antonio, D.S., Zanotto-Filho, A., Moreira, J.C.,Okamoto, O.K., 2015. Embryonic stem cell-related protein l1td1 is required for cell viability, neurosphere formation, and chemoresistance in medulloblastoma. Stem Cells Dev. 24, 2700-2708.
    Shull, L.C., Sen, R., Menzel, J., Goyama, S., Kurokawa, M.,Artinger, K.B., 2020. The conserved and divergent roles of prdm3 and prdm16 in zebrafish and mouse craniofacial development. Dev. Biol. 461, 132-144.
    Sun, Y., Huang, Y., Yin, A., Pan, Y., Wang, Y., Wang, C., Du, Y., Wang, M., Lan, F., Hu, Z., et al., 2015. Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. Nat. Commun. 6, 6414.
    Wehby, G.L.,Cassell, C.H., 2010. The impact of orofacial clefts on quality of life and healthcare use and costs. Oral Dis. 16, 3-10.
    Yu, Y., Zuo, X., He, M., Gao, J., Fu, Y., Qin, C., Meng, L., Wang, W., Song, Y., Cheng, Y., et al., 2017. Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. Nat. Commun. 8, 14364
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