An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs
Open accessAbstract
BACKGROUNDS & AIMS: Primary biliary cholangitis (PBC) is a chronic liver disease in which autoimmune destruction of the small intrahepatic bile ducts eventually leads to cirrhosis. Many patients have inadequate response to licensed medications, motivating the search for novel therapies. Previous genome-wide association studies (GWAS) and meta-analyses (GWMA) of PBC have identified numerous risk loci for this condition, providing insight into its aetiology. We undertook the largest GWMA of PBC to date, aiming to identify additional risk loci and prioritise candidate genes for in silico drug efficacy screening. METHODS: We combined new and existing genotype data for 10,516 cases and 20,772 controls from 5 European and 2 East Asian cohorts. RESULTS: 17 cells in the pathogenesis of this disease. Drug efficacy screening identified several medications predicted to be therapeutic in PBC, some of which are well-established in the treatment of other autoimmune disorders. CONCLUSIONS: This study has identified additional risk loci for PBC, provided a hierarchy of agents that could be trialled in this condition, and emphasised the value of genetic and genomic approaches to drug discovery in complex disorders. LAY SUMMARY: Primary biliary cholangitis (PBC) is a chronic liver disease that eventually leads to cirrhosis. In this study, we analysed genetic information from 10,516 people with PBC and 20,772 healthy individuals recruited in Canada, China, Italy, Japan, the UK, or the USA. We identified several genetic regions associated with PBC. Each of these regions contains several genes. For each region, we used diverse sources of evidence to help us choose the gene most likely to be involved in causing PBC. We used these 'candidate genes' to help us identify medications that are currently used for treatment of other conditions, which might also be useful for treatment of PBC.
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These gene loci were significantly expressed in both European and Chinese populations, indicating a shared primary biliary cholangitis genetic architecture across different ethnicities.
“These gene loci were significantly expressed in both European and Chinese populations, indicating a shared primary biliary cholangitis genetic architecture across different ethnicities.”
From Primary biliary cholangitis. (2024) · cites this paper as [18]
The Results section, ‘The genetic architecture of PBC is broadly shared across European and Asian populations,’ reports concordant risk signals and calls the shared architecture preliminary evidence. But the paper studies genetic association, not gene expression, and the Results section on newly identified loci says unequivocal association was evident in both European and Asian panels at six loci, not all loci. Its cross-population conclusion concerns Asian cohorts, not Chinese participants alone. (LLM, conf=0.88)
Experimental — accuracy not yet measuredA recent genome-wide meta-analysis revealed novel risk loci, including ID2, TMEM163, PRDM1, CCR6, ETS1, and FAM177A1.
“A recent genome-wide meta-analysis revealed novel risk loci, including ID2, TMEM163, PRDM1, CCR6, ETS1, and FAM177A1.18”
From Primary biliary cholangitis. (2024) · cites this paper as [18]
More than 60 non-HLA susceptibility regions have been identified in PBC pathogenesis.
“In addition to the human leukocyte antigen (HLA) locus, more than 60 non-HLA susceptibility regions have been identified in PBC pathogenesis, including tumor necrosis factor superfamily member 15 (TNFSF15), Interleukin 12 A (IL12A), Interleukin 12 receptor (IL12R), Nuclear Factor Kappa B Subunit 1 (NFKB1) and other immune-associated genes6–11.”
From A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression (2023) · cites this paper as [11]
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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 · see citing works
Self-citationSzklarczyk, D., Gable, A. L., Lyon, D., Junge, A., Wyder, S., Huerta-Cepas, J., Simonovic, M., Doncheva, N. T., Morris, J. H., Bork, P., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1131 · Cited by 17,749 · see citing works
Huang, D. W., Sherman, B. T., & Lempicki, R. A. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn923 · Cited by 14,108 · see citing works
GCTA: a tool for genome-wide complex trait analysis
Yang, J., Lee, S. H., Goddard, M. E., & Visscher, P. M. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.011 · Cited by 8,279 · see citing works
The Ensembl Variant Effect Predictor
McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099 · see citing works
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bulik-Sullivan, B. K., Loh, P.-R., Finucane, H. K., Ripke, S., Yang, J., Patterson, N., Daly, M. J., Price, A. L., & Neale, B. M. (2015) · Nature Genetics · doi:10.1038/ng.3211 · Cited by 5,559 · see citing works
Functional mapping and annotation of genetic associations with FUMA
Watanabe, K., Taskesen, E., van Bochoven, A., & Posthuma, D. (2017) · Nature Communications · doi:10.1038/s41467-017-01261-5 · Cited by 4,083 · see citing works
Howie, B. N., Donnelly, P., & Marchini, J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000529 · Cited by 3,928 · see citing works
Genomic atlas of the human plasma proteome
Sun, B. B., Maranville, J. C., Peters, J. E., Stacey, D., Staley, J. R., Blackshaw, J., Burgess, S., Jiang, T., Paige, E., Surendran, P., et al. (2018) · Nature · doi:10.1038/s41586-018-0175-2 · Cited by 2,268 · see citing works
Reference-based phasing using the Haplotype Reference Consortium panel
Loh, P.-R., Danecek, P., Palamara, P. F., Fuchsberger, C., A Reshef, Y., K Finucane, H., Schoenherr, S., Forer, L., McCarthy, S., Abecasis, G. R., et al. (2016) · Nature Genetics · doi:10.1038/ng.3679 · Cited by 1,894 · see citing works
Self-citationA linear complexity phasing method for thousands of genomes
Delaneau, O., Marchini, J., & Zagury, J.-F. (2012) · Nature Methods · doi:10.1038/nmeth.1785 · Cited by 1,850 · see citing works
Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Yang, J., DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Ferreira, T., Morris, A. P., Medland, S. E., Madden, P. A. F., Heath, A. C., Martin, N. G., Montgomery, G. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2213 · Cited by 1,712 · see citing works
Hou, L., Kellis, M., Liu, Y., Park, Y., & Rinaldi, N. J. (2018) · DSpace@MIT (Massachusetts Institute of Technology) · doi:10.34944/dspace/4648 · Cited by 1,082 · see citing works
Zheng, J., Erzurumluoglu, A. M., Elsworth, B. L., Kemp, J. P., Howe, L., Haycock, P. C., Hemani, G., Tansey, K., Laurin, C., Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium, et al. (2017) · Bioinformatics · doi:10.1093/bioinformatics/btw613 · Cited by 869 · see citing works
FINEMAP: efficient variable selection using summary data from genome-wide association studies
Benner, C., Spencer, C. C. A., Havulinna, A. S., Salomaa, V., Ripatti, S., & Pirinen, M. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw018 · Cited by 815 · see citing works
Biological interpretation of genome-wide association studies using predicted gene functions
Pers, T. H., Karjalainen, J. M., Chan, Y., Westra, H.-J., Wood, A. R., Yang, J., Lui, J. C., Vedantam, S., Gustafsson, S., Esko, T., et al. (2015) · Nature Communications · doi:10.1038/ncomms6890 · Cited by 787 · see citing works
The role of Peroxisome Proliferator-Activated Receptors (PPAR) in immune responses
Christofides, A., Konstantinidou, E., Jani, C., & Boussiotis, V. (2020) · Metabolism: Clinical and Experimental · doi:10.1016/j.metabol.2020.154338 · Cited by 654 · see citing works
Network-based in silico drug efficacy screening
Guney, E., Menche, J., Vidal, M., & Barábasi, A.-L. (2016) · Nature Communications · doi:10.1038/ncomms10331 · Cited by 625 · see citing works
Meta-analysis and imputation refines the association of 15q25 with smoking quantity
The Wellcome Trust Case Control Consortium, Liu, J. Z., Tozzi, F., Waterworth, D. M., Pillai, S. G., Muglia, P., Middleton, L., Berrettini, W., Knouff, C. W., Yuan, X., et al. (2010) · Nature Genetics · doi:10.1038/ng.572 · Cited by 614 · see citing works
Self-citationPrimary Biliary Cirrhosis Associated with <i>HLA, IL12A,</i> and <i>IL12RB2</i> Variants
Hirschfield, G. M., Liu, X., Xu, C., Lu, Y., Xie, G., Lu, Y., Gu, X., Walker, E. J., Jing, K., Juran, B. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0810440 · Cited by 594 · see citing works
Self-citationGenome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
The UK PBC Consortium, Mells, G. F., The Wellcome Trust Case Control Consortium 3, Floyd, J. A. B., Morley, K. I., Cordell, H. J., Franklin, C. S., Shin, S.-Y., Heneghan, M. A., Neuberger, J. M., et al. (2011) · Nature Genetics · doi:10.1038/ng.789 · Cited by 464 · see citing works
Self-citationChen, H., Wang, C., Conomos, M. P., Stilp, A. M., Li, Z., Sofer, T., Szpiro, A. A., Chen, W., Brehm, J. M., Celedon, J. C., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.02.012 · Cited by 415 · see citing works
Self-citationGenome-wide meta-analyses identify three loci associated with primary biliary cirrhosis
Liu, X., Invernizzi, P., Lu, Y., Kosoy, R., Lu, Y., Bianchi, I., Podda, M., Xu, C., Xie, G., Macciardi, F., et al. (2010) · Nature Genetics · doi:10.1038/ng.627 · Cited by 398 · see citing works
Self-citationPrimary biliary cholangitis: pathogenesis and therapeutic opportunities
Gulamhusein, A. F., & Hirschfield, G. M. (2020) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-019-0226-7 · Cited by 308 · see citing works
Self-citationEmerging roles of bile acids in mucosal immunity and inflammation
Chen, M. L., Takeda, K., & Sundrud, M. S. (2019) · Mucosal Immunology · doi:10.1038/s41385-019-0162-4 · Cited by 301 · see citing works
A Bayesian framework for multiple trait colocalization from summary association statistics
Giambartolomei, C., Liu, J. Z., Zhang, W., Hauberg, M. E., Shi, H., Boocock, J., Pickrell, J., Jaffe, A. E., Paşaniuc, B., & Roussos, P. (2018) · Bioinformatics · doi:10.1093/bioinformatics/bty147 · Cited by 294 · see citing works
Cordell, H. J., Han, Y., Mells, G. F., Li, Y., Hirschfield, G. M., Greene, C. S., Xie, G., Juran, B. D., Zhu, D., Qian, D. C., et al. (2015) · Nature Communications · doi:10.1038/ncomms9019 · Cited by 287 · see citing works
Self-citationData Resource Profile: Accessible Resource for Integrated Epigenomic Studies (ARIES)
Relton, C. L., Gaunt, T. R., McArdle, W. L., Ho, K. M., Duggirala, A., Shihab, H. A., Woodward, G., Lyttleton, O., Evans, D. M., Reik, W., et al. (2015) · International Journal of Epidemiology · doi:10.1093/ije/dyv072 · Cited by 287 · see citing works
Mägi, R., Horikoshi, M., Sofer, T., Mahajan, A., Kitajima, H., Franceschini, N., McCarthy, M. I., & Morris, A. P. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx280 · Cited by 283 · see citing works
The Genotype-Tissue Expression (GTEx) project
Lonsdale, J., Thomas, J., Salvatore, M., Phillips, R., Lo, E., Shad, S., Hasz, R., Walters, G., Garcia, F., Young, N., et al. (2013) · Nature Genetics · doi:10.1038/ng.2653 · Cited by 263 · see citing works
A genome-wide association study identifies six novel risk loci for primary biliary cholangitis
Qiu, F., Tang, R., Zuo, X., Shi, X., Wei, Y., Zheng, X., Dai, Y., Gong, Y., Wang, L., Xu, P., et al. (2017) · Nature Communications · doi:10.1038/ncomms14828 · Cited by 140 · see citing works
Self-citationHirschfield, G., Gershwin, M., Strauss, R., Mayo, M., Levy, C., Zou, B., Johanns, J., Nnane, I., Dasgupta, B., Li, K., et al. (2016) · Hepatology · doi:10.1002/hep.28359 · Cited by 127 · see citing works
Self-citationBarbeira, A. N., Dickinson, S. P., Bonazzola, R., Zheng, J., Wheeler, H. E., Torres, J. M., Torstenson, E. S., Shah, K. P., Garcia, T., Edwards, T. L., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03621-1 · Cited by 69 · see citing works
Self-citationBowlus, C. L., Yang, G., Liu, C. H., Johnson, C. R., Dhaliwal, S. S., Frank, D., Levy, C., Peters, M. G., Vierling, J. M., & Gershwin, M. E. (2019) · Journal of Autoimmunity · doi:10.1016/j.jaut.2019.04.005 · Cited by 56 · see citing works
Kawashima, M., Hitomi, Y., Aiba, Y., Nishida, N., Kojima, K., Kawai, Y., Nakamura, H., Tanaka, A., Zeniya, M., Hashimoto, E., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddw406 · Cited by 52 · see citing works
Self-citationTanaka, A., Ohira, H., Kikuchi, K., Nezu, S., Shibuya, A., Bianchi, I., Podda, M., Invernizzi, P., & Takikawa, H. (2011) · Tissue Antigens · doi:10.1111/j.1399-0039.2010.01600.x · Cited by 22 · see citing works
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Evolving cognition of the JAK-STAT signaling pathway: autoimmune disorders and cancer
Chen, X., Yao, Q., Gu, X., Shi, Q., Yuan, X., Chu, Q., Bao, Z., Lu, J., & Li, L. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01468-7 · Cited by 753 · see citing works
TNF in the liver: targeting a central player in inflammation
Tiegs, G., & Horst, A. K. (2022) · Seminars in Immunopathology · doi:10.1007/s00281-022-00910-2 · Cited by 231 · see citing works
Tanaka, A., Ma, X., Takahashi, A., & Vierling, J. M. (2024) · The Lancet · doi:10.1016/s0140-6736(24)01303-5 · Cited by 177 · see citing works
Self-citationTrivedi, P. J., Hirschfield, G. M., Adams, D., & Vierling, J. M. (2024) · Gastroenterology · doi:10.1053/j.gastro.2024.01.049 · Cited by 98 · see citing works
Self-citationJin, C., Jiang, P., Zhang, Z., Han, Y., Wen, X., Zheng, L., Kuang, W., Lian, J., Yu, G., Qian, X., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-53104-9 · Cited by 56 · see citing works
Self-citationThe liver as a central "hub" of the immune system: pathophysiological implications
Ronca, V., Gerussi, A., Collins, P., Parente, A., Oo, Y. H., & Invernizzi, P. (2025) · Physiological Reviews · doi:10.1152/physrev.00004.2023 · Cited by 59 · see citing works
Self-citationNevens, F., Trauner, M. A., & Manns, M. P. (2022) · Journal of Hepatology · doi:10.1016/j.jhep.2022.10.007 · Cited by 51 · see citing works
Evaluation and Management of Pruritus in Primary Biliary Cholangitis
Düll, M. M., & Kremer, A. E. (2022) · Clinics in Liver Disease · doi:10.1016/j.cld.2022.06.009 · Cited by 41 · see citing works
How genetic risk contributes to autoimmune liver disease
Ellinghaus, D. (2022) · Seminars in Immunopathology · doi:10.1007/s00281-022-00950-8 · Cited by 38 · see citing works
Matsumoto, K., Ohfuji, S., Abe, M., Komori, A., Takahashi, A., Fujii, H., Kawata, K., Noritake, H., Tadokoro, T., Honda, A., et al. (2022) · Journal of Gastroenterology · doi:10.1007/s00535-021-01836-6 · Cited by 35 · see citing works
Self-citationHLA, gut microbiome and hepatic autoimmunity
Beretta‐Piccoli, B. T., Mieli‐Vergani, G., & Vergani, D. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.980768 · Cited by 32 · see citing works
New Therapies on the Horizon for Primary Biliary Cholangitis
Tanaka, A. (2023) · Drugs · doi:10.1007/s40265-023-01979-1 · Cited by 31 · see citing works
Self-citationThe genetic architecture of primary biliary cholangitis
Gerussi, A., Carbone, M., Corpechot, C., Schramm, C., Asselta, R., & Invernizzi, P. (2021) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2021.104292 · Cited by 31 · see citing works
Self-citationHan, Y., Byun, J., Zhu, C., Sun, R., Roh, J. Y., Cordell, H. J., Lee, H., Shaw, V. R., Kang, S. W., Razjouyan, J., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-36678-8 · Cited by 30 · see citing works
Self-citationYu, X., Chen, Y., Chen, J., Fan, Y., Lu, H., Wu, D., & Xu, Y. (2024) · BMC Medicine · doi:10.1186/s12916-024-03385-0 · Cited by 30 · see citing works
Mechanism-based target therapy in primary biliary cholangitis: opportunities before liver cirrhosis?
Yang, Y., He, X.-S., Rojas, M., Leung, P. S. C., & Gao, L. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1184252 · Cited by 29 · see citing works
Luo, X., & You, X. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1225742 · Cited by 26 · see citing works
The Genetics of Primary Biliary Cholangitis: A GWAS and Post-GWAS Update
Hitomi, Y., & Nakamura, M. (2023) · Genes · doi:10.3390/genes14020405 · Cited by 26 · see citing works
Self-citationImmunologic Responses and the Pathophysiology of Primary Biliary Cholangitis
Chen, R., Tang, R., Ma, X., & Gershwin, M. E. (2022) · Clinics in Liver Disease · doi:10.1016/j.cld.2022.06.003 · Cited by 24 · see citing works
Self-citationAlipour, P., Senkevich, K. A., Ross, J. P., Spiegelman, D., Manousaki, D., Dion, P. A., & Rouleau, G. A. (2022) · BMC Medicine · doi:10.1186/s12916-022-02578-9 · Cited by 25 · see citing works
The immunological landscape of primary biliary cholangitis: Mechanisms and therapeutic prospects
Ronca, V., Davies, S. P., Oo, Y. H., & Lleo, A. (2025) · Hepatology · doi:10.1097/hep.0000000000001225 · Cited by 22 · see citing works
Self-citationWang, C., Shi, Y., Wang, X., Ma, H., Liu, Q., Gao, Y., & Niu, J. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.940688 · Cited by 19 · see citing works
Self-citationGerussi, A., Verda, D., Cappadona, C., Cristoferi, L., Bernasconi, D. P., Bottaro, S., Carbone, M., Marco Muselli, B., Invernizzi, P., Asselta, R., et al. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12101587 · Cited by 21 · see citing works
Self-citationLi, Y., Li, Z., Chen, R., Lian, M., Wang, H., Wei, Y., You, Z., Zhang, J., Li, B., Li, Y., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-37213-5 · Cited by 18 · see citing works
Self-citationMori, Y., Miyake, M., Hosoda, Y., Miki, A., Takahashi, A., Muraoka, Y., Miyata, M., Sato, T. K., Tamura, H., Ooto, S., et al. (2022) · Ophthalmology · doi:10.1016/j.ophtha.2022.04.018 · Cited by 18 · see citing works
Self-citationGenetics of Primary Biliary Cholangitis
Gerussi, A., Asselta, R., & Invernizzi, P. (2022) · Clinics in Liver Disease · doi:10.1016/j.cld.2022.06.002 · Cited by 18 · see citing works
Self-citationHuang, W., Jiang, R., Li, S., Zeng, R., Yang, L., Zhang, Y., Tong, S., Lyu, Y., Wang, J., Lian, Q., et al. (2024) · JHEP Reports · doi:10.1016/j.jhepr.2024.101037 · Cited by 20 · see citing works
Hitomi, Y., Aiba, Y., Ueno, K., Nishida, N., Kawai, Y., Kawashima, M., Tsuiji, M., Iwabuchi, C., Takada, S., Miyake, N., et al. (2022) · Human Genomics · doi:10.1186/s40246-022-00419-7 · Cited by 18 · see citing works
Self-citationLv, X., Liu, W., Zhou, X., Yang, Y., Zhao, W., Meng, L., Mu, F., Zhang, Z., Zhu, S., Zhang, S., et al. (2025) · International Journal of Nanomedicine · doi:10.2147/ijn.s506221 · Cited by 17 · see citing works
Fu, Y., Li, J., Zhu, Y., Chen, C., Liu, J., Gu, S., Zheng, Y., & Li, Y. (2023) · BMC Medical Genomics · doi:10.1186/s12920-023-01670-0 · Cited by 15 · see citing works
Qian, Q., Wu, Y., Cui, N., Li, Y., Zhou, Y., Li, Y., Lian, M., Xiao, X., Miao, Q., You, Z., et al. (2024) · Journal of Autoimmunity · doi:10.1016/j.jaut.2024.103289 · Cited by 15 · see citing works
Self-citationHitomi, Y., Ueno, K., Aiba, Y., Nishida, N., Kono, M., Sugihara, M., Kawai, Y., Kawashima, M., Khor, S., Sugi, K., et al. (2024) · Hepatology · doi:10.1097/hep.0000000000000894 · Cited by 14 · see citing works
Self-citationFan, J., Jiang, T., & He, D. (2022) · Seminars in Arthritis and Rheumatism · doi:10.1016/j.semarthrit.2022.152142 · Cited by 14 · see citing works
Zhang, J., Wu, G., Tang, Y., Liu, H., Ge, X., Peng, R., Cao, J., Tu, D., Su, B., Jin, S., et al. (2023) · Frontiers in Microbiology · doi:10.3389/fmicb.2023.1273024 · Cited by 13 · see citing works
Self-citationCT and MR imaging of primary biliary cholangitis: a pictorial review
Zhang, Y., Zheng, T., Huang, Z., & Song, B. (2023) · Insights into Imaging · doi:10.1186/s13244-023-01517-3 · Cited by 12 · see citing works
New insights on the role of human leukocyte antigen complex in primary biliary cholangitis
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Self-citationKhor, S., Ueno, K., Nishida, N., Kawashima, M., Kawai, Y., Aiba, Y., Hitomi, Y., Nagasaki, M., Nakamura, M., & Tokunaga, K. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1151502 · Cited by 12 · see citing works
Self-citationYang, J., Ma, G., Wang, K., Yang, H., Jiang, S., Fan, Q., Zhou, X., Guo, G., & Han, Y. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1342119 · Cited by 11 · see citing works
Self-citationSu, Y., Zhang, Y., Chai, Y., & Xu, J. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1343480 · Cited by 11 · see citing works
The role of TNF in metabolic disorders and liver diseases
Xu, C., Ezzi, S. H. A., Zou, X., Dong, Y., Alhaskawi, A., Zhou, H., Kota, V. G., Abdulla, M. H. A. H., Abdalbary, S. A., & Lu, H. J. (2025) · Cytokine · doi:10.1016/j.cyto.2025.156933 · Cited by 11 · see citing works
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Hitomi, Y., Aiba, Y., Ueno, K., Nishida, N., Kawai, Y., Kawashima, M., Yasunami, M., Gervais, O., Ito, M., Cordell, H. J., et al. (2021) · Journal of Autoimmunity · doi:10.1016/j.jaut.2021.102775 · Cited by 11 · see citing works
Self-citationLu, Z., Li, X., Qi, Y., Li, B., & Chen, L. (2024) · Journal of Translational Medicine · doi:10.1186/s12967-024-04941-1 · Cited by 11 · see citing works
Liu, Z., Shao, Y., & Duan, X. (2024) · PLoS ONE · doi:10.1371/journal.pone.0298225 · Cited by 11 · see citing works
Innate immunity of bile and cholangiocytes in primary biliary cholangitis
Chen, R., Sun, Y., Hu, Y., & Tai, W. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1655287 · Cited by 11 · see citing works
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Lyu, X., Lamb, J. A., & Chinoy, H. (2024) · Lara D. Veeken · doi:10.1093/rheumatology/keae183 · Cited by 10 · see citing works
Yang, H., Chen, L., & Liu, Y. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1052616 · Cited by 10 · see citing works
Tao, T., Tang, A., Lv, L., Yuan, J., Wu, L., Zhao, L., & Chen, J. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1270401 · Cited by 10 · see citing works
Li, Y., Zhang, J., Wen, J., Liu, M., Liu, W., & Li, Y. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1249017 · Cited by 9 · see citing works
Self-citationContribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder
Yata, T., Sato, G. R., Ogawa, K., Naito, T., Sonehara, K., Saiki, R., Edahiro, R., Namba, S., Watanabe, M., Shirai, Y., et al. (2025) · Cell Genomics · doi:10.1016/j.xgen.2025.100776 · Cited by 9 · see citing works
Self-citationFryett, J. J., Morris, A. P., & Cordell, H. J. (2022) · Genetic Epidemiology · doi:10.1002/gepi.22496 · Cited by 9 · see citing works
Self-citationFu, X., Song, Y., Lin, J.-Y., Wang, Y., Wu, W., Peng, J., Ye, L., Chen, K., & Li, S.-W. (2023) · International Journal of Medical Sciences · doi:10.7150/ijms.88481 · Cited by 9 · see citing works
Yang, J., Lin, W., Ma, Y., Song, H., Mu, C., Wu, Q., Chen, H., Zhang, J., & Liu, X. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1370831 · Cited by 9 · see citing works
Self-citationBidirectional Mendelian randomization links gut microbiota to primary biliary cholangitis
Zhou, Z., Li, W., Wu, Y., Wang, T., Zhang, J., You, L., Li, H., Zheng, C., Gao, Y., & Sun, X. (2024) · Scientific Reports · doi:10.1038/s41598-024-79227-z · Cited by 8 · see citing works
Self-citationEmerging nanomedicine for liver diseases treatment
Zhu, Y., Ge, D., Wang, J., Sun, H., Li, W., & Ren, H. (2025) · Journal of Nanobiotechnology · doi:10.1186/s12951-025-03832-x · Cited by 8 · see citing works
Chen, Q., Zhong, R., Wang, Y., Kui, Y., Wen, X., Huang, J., & Jin, Q. (2023) · Digestive Diseases · doi:10.1159/000531557 · Cited by 10 · see citing works
An Integrated Pathogenetic Model of Primary Biliary Cholangitis
Kouroumalis, E., Tsomidis, I., & Voumvouraki, A. (2025) · Livers · doi:10.3390/livers5020015 · Cited by 7 · see citing works
Ye, K., Yao, X., Lu, D., Tan, C., & Wang, X. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1620073 · Cited by 7 · see citing works
Osteoporosis and Primary Biliary Cholangitis: A Trans-ethnic Mendelian Randomization Analysis
Wu, Y., Qian, Q., Liu, Q., Wang, R., Pu, X., Li, Y. O., Zhang, H., You, Z., Miao, Q., Xiao, X., et al. (2024) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-024-08986-4 · Cited by 8 · see citing works
Self-citationLin, Y.-L., Yao, T., Wang, Y.-W., Yu, J., Zhen, C., Lin, J., & Chen, S.-B. (2024) · Clinics and Research in Hepatology and Gastroenterology · doi:10.1016/j.clinre.2024.102419 · Cited by 7 · see citing works
Zhou, S., Li, J., Liu, J., Dong, S., Chen, N., Ran, Y., Liu, H., Wang, X., Yang, H., Liu, M., et al. (2024) · Brain and Behavior · doi:10.1002/brb3.3639 · Cited by 7 · see citing works
Bai, Y., Zhang, M., Chen, L., Zhou, P., Bai, Z., Wang, R., Li, R., Si, J., Zhou, S., & Jiang, Y. (2025) · Journal of Advanced Research · doi:10.1016/j.jare.2025.03.010 · Cited by 7 · see citing works
Wu, L., Li, S., Wu, C., Wu, S., Lin, Y., & Wei, D. (2024) · Arthritis Research & Therapy · doi:10.1186/s13075-023-03235-z · Cited by 7 · see citing works
Jeong, R., & Bulyk, M. L. (2024) · eLife · doi:10.7554/elife.98289 · Cited by 7 · see citing works
Advancing the management of primary biliary cholangitis: From pathogenesis to emerging therapies
Curto, A., Iamello, R. G., Lynch, E. N., & Galli, A. (2025) · World Journal of Clinical Cases · doi:10.12998/wjcc.v13.i30.109028 · Cited by 6 · see citing works
Self-citationShared genetic architecture and causal relationship between liver and heart disease
Fang, Z., Jia, S., Mou, X., Li, Z., Hu, T., Tu, Y., Zhao, J., Zhang, T., Lin, W., Lu, Y., et al. (2024) · iScience · doi:10.1016/j.isci.2024.109431 · Cited by 6 · see citing works
Self-citationJeong, R., & Bulyk, M. L. (2025) · eLife · doi:10.7554/elife.98289.3 · Cited by 9 · see citing works
Hitomi, Y., Ueno, K., Aiba, Y., Nishida, N., Kawai, Y., Kawashima, M., Khor, S., Takada, S., Iwabuchi, C., Nagasaki, M., et al. (2023) · Human Genetics · doi:10.1007/s00439-023-02617-2 · Cited by 6 · see citing works
Self-citationPrimary biliary cirrhosis and osteoporosis: a bidirectional two-sample Mendelian randomization study
Zhao, D., Li, G., Bai, W., Teng, J., Yan, B., & Han, C. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1269069 · Cited by 7 · see citing works
Niu, J., Zhang, G., Wu, N., Liu, H., Yang, H., & Li, C. (2025) · International Journal of Surgery · doi:10.1097/js9.0000000000002457 · Cited by 5 · see citing works
Prognostic Scoring Systems in Primary Biliary Cholangitis: An Update.
Scaravaglio, M., & Carbone, M. (2022) · Clinical Liver Disease · doi:10.1016/j.cld.2022.06.005 · Cited by 4 · see citing works
Self-citationSelected Aspects of the Intricate Background of Immune-Related Cholangiopathies—A Critical Overview
Kasztelan‐Szczerbińska, B., Rycyk, A., Szczerbińska, A., & Cichoż‐Lach, H. (2023) · Nutrients · doi:10.3390/nu15030760 · Cited by 6 · see citing works
Wang, M., Friton, J. J., Rebert, N. A., Monroe, K. M., Nix, B. D., Fiocchi, C., Raffals, L. E., Leighton, J. A., Pasha, S. F., Picco, M. F., et al. (2023) · Clinical and Translational Gastroenterology · doi:10.14309/ctg.0000000000000615 · Cited by 5 · see citing works
Luo, R., Wang, J., & Liu, Y. (2024) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-024-07482-6 · Cited by 5 · see citing works
Fominykh, V., Shadrin, A. A., Jaholkowski, P. P., Fuhrer, J., Parker, N., Wiström, E. D., Frei, O., Smeland, O. B., Sanner, H., Djurovic, S., et al. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1543781 · Cited by 5 · see citing works
Katsumi, T., Sato, H., Murakami, R., Hanatani, T., Uchiyama, F., Suzuki, F., Maki, K., Hoshikawa, K. T., Haga, H., Saito, T., et al. (2024) · PLoS ONE · doi:10.1371/journal.pone.0308912 · Cited by 4 · see citing works
Self-citationYi, J., Wu, S., & He, H. (2024) · Frontiers in Immunology · doi:10.3389/fimmu.2024.1448724 · Cited by 4 · see citing works
Du, Y., Hu, Y., Sheng, Y., Zhu, T., Liu, S., Ding, H., & Guan, Y. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1417896 · Cited by 5 · see citing works
Liao, Z., Su, C., Li, J., & Liu, J. (2025) · Medicine · doi:10.1097/md.0000000000041400 · Cited by 4 · see citing works
Mori, Y., van Dijk, E. H. C., Miyake, M., Hosoda, Y., den Hollander, A. I., Yzer, S., Miki, A., Chen, L. J., Ahn, J., Takahashi, A., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-92210-6 · Cited by 5 · see citing works
Self-citationGenetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci
Zhang, M., Lyu, L., Ge, L., Wang, Y., & Gu, D. (2025) · Frontiers in Immunology · doi:10.3389/fimmu.2025.1600364 · Cited by 4 · see citing works
Zhang, H., Zhou, Z., Chen, K., Xiong, L.-F., Wu, J., & Jin, L. (2024) · BMC Gastroenterology · doi:10.1186/s12876-024-03319-3 · Cited by 4 · see citing works
Wang, F., Chen, L., & Tian, Y. P. (2024) · Cytokine · doi:10.1016/j.cyto.2024.156815 · Cited by 4 · see citing works
Chung, Y., Tsou, H. L. P., Heneghan, M. A., Chokshi, S., & Riva, A. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26020605 · Cited by 4 · see citing works
Self-citationWang, L., Li, J., Wang, C., Tang, R., Liang, J., Gong, Y., Dai, Y., Ding, N., Wu, J. H., Dai, N., et al. (2021) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2021.07.019 · Cited by 4 · see citing works
Self-citationWu, J., Fan, X., & Song, Y. (2023) · Digestive and Liver Disease · doi:10.1016/j.dld.2023.02.020 · Cited by 4 · see citing works
Shu, Y., Yang, B., Liu, X., Xu, M., Deng, C., & Wu, H. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2023.1320842 · Cited by 4 · see citing works
Jeong, R., & Bulyk, M. L. (2024) · eLife · doi:10.7554/elife.98289.1 · Cited by 4 · see citing works
Pleiotropic gene mapping reveals shared immune regulatory hubs across 15 autoimmune diseases
Jin, Y. C., Lu, H., & Yu, X. (2025) · Human Immunology · doi:10.1016/j.humimm.2025.111636 · Cited by 3 · see citing works
Baglaenko, Y., Wagner, C. A., Bhoj, V. G., Brodin, P., Gershwin, M. E., Graham, D. B., Invernizzi, P., Kídd, K. K., Korsunsky, I., Levy, M., et al. (2023) · Cambridge Prisms Precision Medicine · doi:10.1017/pcm.2023.14 · Cited by 3 · see citing works
Self-citationAssociation of CCR6 functional polymorphisms with Primary Biliary Cholangitis
Zhang, M., Qin, Z., Huang, Y., Tian, W., Li, Y., Wang, C., Zhao, W., Dai, Y., Shi, X., Gershwin, M. E., et al. (2024) · Journal of Translational Autoimmunity · doi:10.1016/j.jtauto.2024.100234 · Cited by 3 · see citing works
Self-citationLuo, Y., Khan, A., Liu, L., Lee, C. H., Perreault, G. J., Pomenti, S. F., Gourh, P., Kiryluk, K., & Bernstein, E. J. (2024) · Arthritis & Rheumatology · doi:10.1002/art.43081 · Cited by 3 · see citing works
Hematologic traits and primary biliary cholangitis: a Mendelian randomization study
Ke, B., Li, C., & Shang, H. (2023) · Journal of Human Genetics · doi:10.1038/s10038-023-01146-0 · Cited by 3 · see citing works
Wang, H., Li, Y., Pu, X., Liang, X. S., Tang, R., & Ma, X. (2023) · Journal of Gastroenterology · doi:10.1007/s00535-023-02045-z · Cited by 3 · see citing works
Self-citationImproving predictive accuracy in primary biliary cholangitis: A new genetic risk score
Gerussi, A., Cappadona, C., Bernasconi, D. P., Cristoferi, L., Valsecchi, M. G., Carbone, M., Invernizzi, P., Asselta, R., & the Italian PBC Genetic Study Group (2024) · Liver International · doi:10.1111/liv.15916 · Cited by 3 · see citing works
Self-citationGjoka, A., & Cordell, H. J. (2024) · Genetic Epidemiology · doi:10.1002/gepi.22592 · Cited by 3 · see citing works
Self-citationPrimary biliary cholangitis: personalized medicine for optimal therapeutic opportunities
Shang, Y., Leung, P. S. C., Gershwin, M. E., & Han, Y. (2022) · 中国科学通报：英文版 · doi:10.1016/j.scib.2022.11.029 · Cited by 3 · see citing works
Self-citationLuo, Y., Khan, A., Liu, L., Lee, C. H., Perreault, G. J., Pomenti, S. F., Gourh, P., Kiryluk, K., & Bernstein, E. J. (2024) · medRxiv · doi:10.1101/2024.07.01.24309721 · Cited by 3 · see citing works
A single-cell genetic colocalization test improves power and resolves disease-mediating cell typesPreprint
Mitchel, J., Nazeen, S., Wang, X., Patnaik, P. K., Morrow, A. R., Nasir, H., Strom, R., Ritter, D., Studer, L., Chun, S., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.10.681685 · Cited by 3 · see citing works
Shaw, V. R., Byun, J., Zhu, C., Pettit, R. W., Cohen, J. M., Han, Y., & Amos, C. I. (2025) · Scientific Reports · doi:10.1038/s41598-025-98991-0 · Cited by 2 · see citing works
Self-citationWang, Z., Yu, M., & Wang, H. (2025) · Scientific Reports · doi:10.1038/s41598-025-19697-x · Cited by 2 · see citing works
- Authors
- Cordell, H. J., Fryett, J. J., Ueno, K., Darlay, R., Aiba, Y., Hitomi, Y., Kawashima, M., Nishida, N., Khor, S.-S., Gervais, O., Kawai, Y., Nagasaki, M., Tokunaga, K., Tang, R., Shi, Y., Li, Z., Juran, B. D., Atkinson, E. J., Gerussi, A., Carbone, M., Asselta, R., Cheung, A., de Andrade, M., Baras, A., Horowitz, J., Ferreira, M. A. R., Sun, D., Jones, D. E., Flack, S., Spicer, A., Mulcahy, V. L., Byan, J., Han, Y., Sandford, R. N., Lazaridis, K. N., Amos, C. I., Hirschfield, G. M., Seldin, M. F., Invernizzi, P., Siminovitch, K. A., Ma, X., Nakamura, M., Mells, G. F., Siminovitch, K. A., Hirschfield, G. M., Mason, A., Vincent, C., Xie, G., Zhang, J., Tang, R., Ma, X., Li, Z., Shi, Y., Affronti, A., Almasio, P. L., Alvaro, D., Andreone, P., Andriulli, A., Azzaroli, F., Battezzati, P. M., Benedetti, A., Bragazzi, M., Brunetto, M., Bruno, S., Calvaruso, V., Cardinale, V., Casella, G., Cazzagon, N., Ciaccio, A., Coco, B., Colli, A., Colloredo, G., Colombo, M., Colombo, S., Cristoferi, L., Cursaro, C., Crocè, L. S., Crosignani, A., D’Amato, D., Donato, F., Elia, G., Fabris, L., Fagiuoli, S., Ferrari, C., Floreani, A., Galli, A., Giannini, E., Grattagliano, I., Lampertico, P., Lleo, A., Malinverno, F., Mancuso, C., Marra, F., Marzioni, M., Massironi, S., Mattalia, A., Miele, L., Milani, C., Morini, L., Morisco, F., Muratori, L., Muratori, P., Niro, G. A., O’Donnell, S., Picciotto, A., Portincasa, P., Rigamonti, C., Ronca, V., Rosina, F., Spinzi, G., Strazzabosco, M., Tarocchi, M., Tiribelli, C., Toniutto, P., Valenti, L., Vinci, M., Zuin, M., Nakamura, H., Abiru, S., Nagaoka, S., Komori, A., Yatsuhashi, H., Ishibashi, H., Ito, M., Migita, K., Ohira, H., Katsushima, S., Naganuma, A., Sugi, K., Komatsu, T., Mannami, T., Matsushita, K., Yoshizawa, K., Makita, F., Nikami, T., Nishimura, H., Kouno, H., Kouno, H., Ota, H., Komura, T., Nakamura, Y., Shimada, M., Hirashima, N., Komeda, T., Ario, K., Nakamuta, M., Yamashita, T., Furuta, K., Kikuchi, M., Naeshiro, N., Takahashi, H., Mano, Y., Tsunematsu, S., Yabuuchi, I., Shimada, Y., Yamauchi, K., Sugimoto, R., Sakai, H., Mita, E., Koda, M., Tsuruta, S., Kamitsukasa, H., Sato, T., Masaki, N., Kobata, T., Fukushima, N., Ohara, Y., Muro, T., Takesaki, E., Takaki, H., Yamamoto, T., Kato, M., Nagaoki, Y., Hayashi, S., Ishida, J., Watanabe, Y., Kobayashi, M., Koga, M., Saoshiro, T., Yagura, M., Hirata, K., Tanaka, A., Takikawa, H., Zeniya, M., Abe, M., Onji, M., Kaneko, S., Honda, M., Arai, K., Arinaga-Hino, T., Hashimoto, E., Taniai, M., Umemura, T., Joshita, S., Nakao, K., Ichikawa, T., Shibata, H., Yamagiwa, S., Seike, M., Honda, K., Sakisaka, S., Takeyama, Y., Harada, M., Senju, M., Yokosuka, O., Kanda, T., Ueno, Y., Kikuchi, K., Ebinuma, H., Himoto, T., Yasunami, M., Murata, K., Mizokami, M., Kawata, K., Shimoda, S., Miyake, Y., Takaki, A., Yamamoto, K., Hirano, K., Ichida, T., Ido, A., Tsubouchi, H., Chayama, K., Harada, K., Nakanuma, Y., Maehara, Y., Taketomi, A., Shirabe, K., Soejima, Y., Mori, A., Yagi, S., Uemoto, S., H, E., Tanaka, T., Yamashiki, N., Tamura, S., Sugawara, Y., Kokudo, N., Juran, B. D., Atkinson, E. J., Cheung, A., de Andrade, M., Lazaridis, K. N., Chalasani, N., Luketic, V., Odin, J., Chopra, K., Baras, A., Horowitz, J., Abecasis, G., Cantor, M., Coppola, G., Economides, A., Lotta, L. A., Overton, J. D., Reid, J. G., Shuldiner, A., Beechert, C., Forsythe, C., Fuller, E. D., Gu, Z., Lattari, M., Lopez, A., Overton, J. D., Schleicher, T. D., Padilla, M. S., Toledo, K., Widom, L., Wolf, S. E., Pradhan, M., Manoochehri, K., Ulloa, R. H., Bai, X., Balasubramanian, S., Barnard, L., Blumenfeld, A., Eom, G., Habegger, L., Hawes, A., Khalid, S., Reid, J. G., Maxwell, E. K., Salerno, W., Staples, J. C., Jones, M. B., Mitnaul, L. J., Sturgess, R., Healey, C., Yeoman, A., Gunasekera, A. V., Kooner, P., Kapur, K., Sathyanarayana, V., Kallis, Y., Subhani, J., Harvey, R., McCorry, R., Rooney, P., Ramanaden, D., Evans, R., Mathialahan, T., Gasem, J., Shorrock, C., Bhalme, M., Southern, P., Tibble, J. A., Gorard, D. A., Jones, S., Mells, G., Mulcahy, V., Srivastava, B., Foxton, M. R., Collins, C. E., Elphick, D., Karmo, M., Porras-Perez, F., Mendall, M., Yapp, T., Patel, M., Ede, R., Sayer, J., Jupp, J., Fisher, N., Carter, M. J., Koss, K., Shah, J., Piotrowicz, A., Scott, G., Grimley, C., Gooding, I. R., Williams, S., Tidbury, J., Lim, G., Cheent, K., Levi, S., Mansour, D., Beckley, M., Hollywood, C., Wong, T., Marley, R., Ramage, J., Gordon, H. M., Ridpath, J., Ngatchu, T., Bob Grover, V. P., Shidrawi, R. G., Abouda, G., Corless, L., Narain, M., Rees, I., Brown, A., Taylor-Robinson, S., Wilkins, J., Grellier, L., Banim, P., Das, D., Heneghan, M. A., Curtis, H., Matthews, H. C., Mohammed, F., Aldersley, M., Srirajaskanthan, R., Walker, G., McNair, A., Sharif, A., Sen, S., Bird, G., Prince, M. I., Prasad, G., Kitchen, P., Barnardo, A., Oza, C., Sivaramakrishnan, N. N., Gupta, P., Shah, A., Evans, C. D., Saha, S., Pollock, K., Bramley, P., Mukhopadhya, A., Barclay, S. T., McDonald, N., Bathgate, A. J., Palmer, K., Dillon, J. F., Rushbrook, S. M., Przemioslo, R., McDonald, C., Millar, A., Tai, C., Mitchell, S., Metcalf, J., Shaukat, S., Ninkovic, M., Shmueli, U., Davis, A., Naqvi, A., Lee, T. J., Ryder, S., Collier, J., Klass, H., Cramp, M. E., Sharer, N., Aspinall, R., Ghosh, D., Douds, A. C., Booth, J., Williams, E., Hussaini, H., Christie, J., Mann, S., Thorburn, D., Marshall, A., Patanwala, I., Ala, A., Maltby, J., Matthew, R., Corbett, C., Vyas, S., Singhal, S., Gleeson, D., Misra, S., Butterworth, J., George, K., Harding, T., Douglass, A., Mitchison, H., Panter, S., Shearman, J., Bray, G., Roberts, M., Butcher, G., Forton, D., Mahmood, Z., Cowan, M., Das, D., Ch’ng, C. L., Rahman, M., Whatley, G. C. A., Wesley, E., Mandal, A., Jain, S., Pereira, S. P., Wright, M., Trivedi, P., Gordon, F. H., Unitt, E., Palejwala, A., Austin, A., Vemala, V., Grant, A., Higham, A. D., Brind, A., Mathew, R., Cox, M., Ramakrishnan, S., King, A., Whalley, S., Fraser, J., Thomson, S. J., Bell, A., Wong, V. S., Kia, R., Gee, I., Keld, R., Ransford, R., Gotto, J., & Millson, C.
- Affiliations
- Newcastle University (GB)
- National Center for Global Health and Medicine (JP)
- Nagasaki Medical Center (JP)
- The University of Tokyo (JP)
- Kyoto University (JP)
- Azienda Ospedaliera San Gerardo (IT)
- Humanitas University (IT)
- Regeneron (United States) (US)
- University of Cambridge (GB)
- Baylor College of Medicine (US)
- University of California, Davis (US)
- Mayo Clinic (US)
- Mount Sinai Hospital (CA)
- ORCID
- Cordell, Heather J.
- Fryett, James J.
- Ueno, Kazuko
- Darlay, Rebecca
- Aiba, Yoshihiro
- Hitomi, Yuki
- Kawashima, Minae
- Nishida, Nao
- Khor, Seik-Soon
- Gervais, Olivier
- Kawai, Yosuke
- Nagasaki, Masao
- Tokunaga, Katsushi
- Gerussi, Alessio
- Carbone, Marco
- Asselta, Rosanna
- Ferreira, Manuel A.R.
- Sun, Dylan
- Jones, David E.
- Flack, Steven
- Mulcahy, Victoria L.
- Han, Younghun
- Sandford, Richard N.
- Amos, Christopher I.
- Invernizzi, Pietro
- Mells, George F.
- Mason, Andrew
- Vincent, Catherine
- Zhang, Jinyi
- Almasio, Piero L.
- Alvaro, Domenico
- Andriulli, Angelo
- Azzaroli, Francesco
- Battezzati, Pier Maria
- Benedetti, Antonio
- Brunetto, Maurizia
- Calvaruso, Vincenza
- Cardinale, Vincenzo
- Casella, Giovanni
- Cazzagon, Nora
- Ciaccio, Antonio
- Coco, Barbara
- Colli, Agostino
- Colombo, Massimo
- Cristoferi, Laura
- Cursaro, Carmela
- Crocè, Lory Saveria
- D’Amato, Daphne
- Fabris, Luca
- Fagiuoli, Stefano
- Ferrari, Carlo
- Floreani, Annarosa
- Galli, Andrea
- Giannini, Edoardo
- Lampertico, Pietro
- Mancuso, Clara
- Marra, Fabio
- Marzioni, Marco
- Massironi, Sara
- Miele, Luca
- Milani, Chiara
- Morisco, Filomena
- Muratori, Luigi
- Muratori, Paolo
- Niro, Grazia A.
- Portincasa, Piero
- Rigamonti, Cristina
- Ronca, Vincenzo
- Spinzi, Giancarlo
- Strazzabosco, Mario
- Tarocchi, Mirko
- Tiribelli, Claudio
- Toniutto, Pierluigi
- Valenti, Luca
- Zuin, Massimo
- Nakamura, Hitomi
- Nagaoka, Shinya
- Komori, Atsumasa
- Yatsuhashi, Hiroshi
- Ishibashi, Hiromi
- Ito, Masahiro
- Migita, Kiyoshi
- Ohira, Hiromasa
- Katsushima, Shinji
- Naganuma, Atsushi
- Mannami, Tomohiko
- Yoshizawa, Kaname
- Komura, Takuya
- Nakamura, Yoko
- Shimada, Masaaki
- Nakamuta, Makoto
- Kikuchi, Masahiro
- Shimada, Yusuke
- Sugimoto, Rie
- Sakai, Hironori
- Tsuruta, Satoru
- Sato, Takeaki
- Masaki, Naohiko
- Nagaoki, Yuko
- Ishida, Jinya
- Watanabe, Yukio
- Kobayashi, Masakazu
- Takikawa, Hajime
- Zeniya, Mikio
- Abe, Masanori
- Kaneko, Shuichi
- Honda, Masao
- Arai, Kuniaki
- Taniai, Makiko
- Umemura, Takeji
- Joshita, Satoru
- Nakao, Kazuhiko
- Ichikawa, Tatsuki
- Yamagiwa, Satoshi
- Seike, Masataka
- Honda, Koichi
- Sakisaka, Shotaro
- Takeyama, Yasuaki
- Harada, Masaru
- Yokosuka, Osamu
- Kanda, Tatsuo
- Ueno, Yoshiyuki
- Kikuchi, Kentaro
- Ebinuma, Hirotoshi
- Himoto, Takashi
- Yasunami, Michio
- Murata, Kazumoto
- Mizokami, Masashi
- Kawata, Kazuhito
- Shimoda, Shinji
- Miyake, Yasuhiro
- Takaki, Akinobu
- Tsubouchi, Hirohito
- Chayama, Kazuaki
- Harada, Kenichi
- Nakanuma, Yasuni
- Maehara, Yoshihiko
- Taketomi, Akinobu
- Soejima, Yuji
- Mori, Akira
- Yagi, Shintaro
- Tanaka, Tomohiro
- Yamashiki, Noriyo
- Kokudo, Norihiro
- Chalasani, Naga
- Odin, Joseph
- Cantor, Michael
- Coppola, Giovanni
- Economides, Aris
- Lotta, Luca A.
- Shuldiner, Alan
- Lopez, Alexander
- Ulloa, Ricardo H.
- Bai, Xiaodong
- Balasubramanian, Suganthi
- Blumenfeld, Andrew
- Maxwell, Evan K.
- Salerno, William
- Staples, Jeffrey C.
- Jones, Marcus B.
- Yeoman, Andrew
- Kapur, Kapil
- Kallis, Yiannis
- Tibble, Jeremy A.
- Collins, Carole E.
- Mendall, Michael
- Fisher, Neil
- Cheent, Kuldeep
- Mansour, Dina
- Ramage, John
- Shidrawi, Ray G.
- Corless, L.
- Taylor-Robinson, Simon
- Grellier, Leonie
- Banim, Paul
- Das, Debasish
- Heneghan, Michael A.
- Aldersley, Mark
- Barclay, Stephen T.
- McDonald, Natasha
- Dillon, John F.
- Rushbrook, Simon M.
- Przemioslo, Robert
- Millar, Andrew
- Lee, Tom JW.
- Ryder, Stephen
- Collier, Jane
- Cramp, Matthew E.
- Aspinall, Richard
- Ghosh, Deb
- Douds, Andrew C.
- Thorburn, Douglas
- Marshall, Aileen
- Patanwala, Imran
- Ala, Aftab
- Gleeson, Dermot
- Harding, Tim
- Forton, Daniel
- Ch’ng, Chin Lye
- Rahman, Mesbah
- Pereira, Stephen P.
- Wright, Mark
- Trivedi, Palak
- Gordon, Fiona H.
- Whalley, Simon
- Keld, Richard
- Millson, Charles
- Venue
- Journal of Hepatology
- Publisher
- Elsevier BV
- Published
- 2021-09
- Volume
- 75
- Issue
- 3
- Pages
- 572-581
- ISSN
- 0168-8278 (ISSN-L)
- PMC
- PMC8811537
- OpenAlex
- W3165249197
- Cited by
- 182
- References
- 35
- Citations by year
- 2026: 27 · 2025: 46 · 2024: 50 · 2023: 36 · 2022: 19 · 2021: 4
- FWCI
- 3.72
- Type
- journal article
- Language
- en
- Update notices
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Hepatology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, cc-by-nc-nd)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion, cc-by)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion, cc-by)
- Florence Research (University of Florence) (submittedVersion, other-oa)
- Università Politecnica delle Marche (Università Politecnica delle Marche) (submittedVersion, cc-by)
- PEARL (University of Plymouth) (submittedVersion)
- Institutional Research Information System (University of Udine) (submittedVersion)
- ArTS Archivio della ricerca di Trieste (University of Trieste https://www.units.it/) (submittedVersion)
- BOA (University of Milano-Bicocca) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion, other-oa)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Nova Science Publishers (Nova Science Publishers, Inc.) (submittedVersion, cc-by)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- PubliCatt (Università Cattolica del Sacro Cuore) (submittedVersion, cc-by)
- Kyoto University Research Information Repository (Kyoto University) (submittedVersion, other-oa)
- Spiral (Imperial College London) (submittedVersion, cc-by)
- UEA Digital Repository (University of East Anglia) (submittedVersion)
- Padua Research Archive (University of Padova) (submittedVersion, cc-by)
- Newcastle University ePrints (Newcastle Univesity) (cc-by)
- Funders
- Japan Society for the Promotion of Science (26293181, 17H04169)
- Biotechnology and Biological Sciences Research Council (BB/M011186/1)
- Ontario Research Foundation (RE-09090)
- Cancer Prevention and Research Institute of Texas (CA186566, RR170048)
- Canadian Institutes of Health Research (353710)
- Ministero dell’Istruzione, dell’Università e della Ricerca
- University of Bristol
- American Medical Association Foundation
- National Institute for Health Research
- Wellcome Trust (102858/Z/13/Z)
- Japan Agency for Medical Research and Development (JP20km0405205, JP20km0405501)
- Medical Research Council (MR/L001489/1, 217065/Z/19/Z)
- National Institutes of Health (DK80670)
- Topics
- Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Oncology › Drug Transport and Resistance Mechanisms
- Keywords
- primary biliary cirrhosis, genetic susceptibility loci, candidate genes, drug repurposing, autoimmune liver disease, bile duct destruction, liver cirrhosis, genetic susceptibility
- MeSH terms
- Humans, Liver Cirrhosis, Biliary, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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