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Fig. 1 Study design. BA-associated common SNPs were identified using GWAS in 811 BA cases and 4,654 controls. Candidate genes underwent functional validation with immunostaining, fetal liver organoids, mouse tracheal cilia, and zebrafish. Whole-transcriptome sequencing was performed on 64 BA livers and eight normal donor liver samples. An integrative analysis was performed using genes identified by GWAS and differentially expressed genes in BA livers. BA, biliary atresia, GWAS, genome-wide association study; SNPs, single nucleotide polymorphisms.
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Reprinted from Journal of hepatology, 79(6), Glessner, J.T., Ningappa, M.B., Ngo, K.A., Zahid, M., So, J., Higgs, B.W., Sleiman, P.M.A., Narayanan, T., Ranganathan, S., March, M., Prasadan, K., Vaccaro, C., Reyes-Mugica, M., Velazquez, J., Salgado, C.M., Ebrahimkhani, M.R., Schmitt, L., Rajasundaram, D., Paul, M., Pellegrino, R., Gittes, G.K., Li, D., Wang, X., Billings, J., Squires, R., Ashokkumar, C., Sharif, K., Kelly, D., Dhawan, A., Horslen, S., Lo, C.W., Shin, D., Subramaniam, S., Hakonarson, H., Sindhi, R., Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes, 1385-1395, Copyright (2023) with permission from Elsevier. Full text @ J. Hepatol.