2021
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs
Cordell H, Fryett J, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor S, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran B, Atkinson E, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira M, Sun D, Jones D, Flack S, Spicer A, Mulcahy V, Byan J, Han Y, Sandford R, Lazaridis K, Amos C, Hirschfield G, Seldin M, Invernizzi P, Siminovitch K, Ma X, Nakamura M, Mells G, Consortia P, Consortium C, Siminovitch K, Mason A, Vincent C, Xie G, Zhang J, Consortium C, Tang R, Ma X, Li Z, Shi Y, Group I, Affronti A, Almasio P, Alvaro D, Andreone P, Andriulli A, Azzaroli F, Battezzati P, 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, 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, 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, Consortium J, 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, Egawa H, Tanaka T, Yamashiki N, Tamura S, Sugawara Y, Kokudo N, Consortium P, Atkinson E, de Andrade M, Chalasani N, Luketic V, Odin J, Chopra K, Baras A, Horowitz J, Abecasis G, Cantor M, Coppola G, Economides A, Lotta L, Overton J, Reid J, Shuldiner A, Beechert C, Forsythe C, Fuller E, Gu Z, Lattari M, Lopez A, Schleicher T, Padilla M, Toledo K, Widom L, Wolf S, Pradhan M, Manoochehri K, Ulloa R, Bai X, Balasubramanian S, Barnard L, Blumenfeld A, Eom G, Habegger L, Hawes A, Khalid S, Maxwell E, Salerno W, Staples J, Jones M, Mitnaul L, Consortium U, Sturgess R, Healey C, Yeoman A, Gunasekera A, 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, Gorard D, Jones S, Mells G, Mulcahy V, Srivastava B, Foxton M, Collins C, Elphick D, Karmo M, Porras-Perez F, Mendall M, Yapp T, Patel M, Ede R, Sayer J, Jupp J, Fisher N, Carter M, Koss K, Shah J, Piotrowicz A, Scott G, Grimley C, Gooding I, Williams S, Tidbury J, Lim G, Cheent K, Levi S, Mansour D, Beckley M, Hollywood C, Wong T, Marley R, Ramage J, Gordon H, Ridpath J, Ngatchu T, Grover V, Shidrawi R, Abouda G, Corless L, Narain M, Rees I, Brown A, Taylor-Robinson S, Wilkins J, Grellier L, Banim P, Das D, Heneghan M, Curtis H, Matthews H, Mohammed F, Aldersley M, Srirajaskanthan R, Walker G, McNair A, Sharif A, Sen S, Bird G, Prince M, Prasad G, Kitchen P, Barnardo A, Oza C, Sivaramakrishnan N, Gupta P, Shah A, Evans C, Saha S, Pollock K, Bramley P, Mukhopadhya A, Barclay S, McDonald N, Bathgate A, Palmer K, Dillon J, Rushbrook S, Przemioslo R, McDonald C, Millar A, Tai C, Mitchell S, Metcalf J, Shaukat S, Ninkovic M, Shmueli U, Davis A, Naqvi A, Lee T, Ryder S, Collier J, Klass H, Cramp M, Sharer N, Aspinall R, Ghosh D, Douds A, 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, Rahman M, Whatley G, Wesley E, Mandal A, Jain S, Pereira S, Wright M, Trivedi P, Gordon F, Unitt E, Palejwala A, Austin A, Vemala V, Grant A, Higham A, Brind A, Mathew R, Cox M, Ramakrishnan S, King A, Whalley S, Fraser J, Thomson S, Bell A, Wong V, Kia R, Gee I, Keld R, Ransford R, Gotto J, Millson C. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs. Journal Of Hepatology 2021, 75: 572-581. PMID: 34033851, PMCID: PMC8811537, DOI: 10.1016/j.jhep.2021.04.055.Peer-Reviewed Original ResearchConceptsChronic liver diseaseBiliary cholangitisLiver diseaseSmall intrahepatic bile ductsTreatment of PBCPrimary biliary cholangitisIntrahepatic bile ductsAdditional risk lociRisk lociPattern recognition receptorsLicensed medicationsT helperAutoimmune destructionEast Asian cohortsAutoimmune disordersBile ductAsian cohortEuropean cohortInadequate responseNovel therapiesDrug efficacy screeningHealthy individualsGenome-wide association studiesNumerous risk lociRecognition receptorsX Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis
Asselta R, Paraboschi E, Gerussi A, Cordell H, Mells G, Sandford R, Jones D, Nakamura M, Ueno K, Hitomi Y, Kawashima M, Nishida N, Tokunaga K, Nagasaki M, Tanaka A, Tang R, Li Z, Shi Y, Liu X, Xiong M, Hirschfield G, Siminovitch K, Consortium C, Walker E, Xie G, Mason A, Myers R, Peltekian K, Ghent C, Atkinson E, Juran B, Lazaridis K, Lu Y, Gu X, Jing K, Amos C, Group I, Affronti A, Brunetto M, Coco B, Spinzi G, Elia G, Ferrari C, Lleo A, Muratori L, Muratori P, Portincasa P, Colli A, Bruno S, Colloredo G, Azzaroli F, Andreone P, Bragazzi M, Alvaro D, Cardinale V, Cazzagon N, Rigamonti C, Floreani A, Rosina F, Ciaccio A, Cristoferi L, D’Amato D, Malinverno F, Mancuso C, Massironi S, Milani C, O’Donnell S, Ronca V, Barisani D, Lampertico P, Donato F, Fagiuoli S, Almasio P, Giannini E, Cursaro C, Colombo M, Valenti L, Miele L, Andriulli A, Niro G, Grattagliano I, Morini L, Casella G, Vinci M, Battezzati P, Crosignani A, Zuin M, Mattalia A, Calvaruso V, Colombo S, Benedetti A, Marzioni M, Galli A, Marra F, Tarocchi M, Picciotto A, Morisco F, Fabris L, Crocè L, Tiribelli C, Toniutto P, Strazzabosco M, Consortium U, Ch’ng C, Rahman M, Yapp T, Sturgess R, Healey C, Czajkowski M, Gunasekera A, Gyawali P, Premchand P, Kapur K, Marley R, Foster G, Watson A, Dias A, Subhani J, Harvey R, McCorry R, Ramanaden D, Gasem J, Evans R, Mathialahan T, Shorrock C, Lipscomb G, Southern P, Tibble J, Gorard D, Palegwala A, Jones S, Dawwas M, Alexander G, Dolwani S, Prince M, Foxton M, Elphick D, Mitchison H, Gooding I, Karmo M, Saksena S, Mendall M, Patel M, Ede R, Austin A, Sayer J, Hankey L, Hovell C, Fisher N, Carter M, Koss K, Piotrowicz A, Grimley C, Neal D, Lim G, Levi S, Ala A, Broad A, Saeed A, Wood G, Brown J, Wilkinson M, Gordon H, Ramage J, Ridpath J, Ngatchu T, Grover B, Shaukat S, Shidrawi R, Abouda G, Ali F, Rees I, Salam I, Narain M, Brown A, Taylor-Robinson S, Williams S, Grellier L, Banim P, Das D, Chilton A, Heneghan M, Curtis H, Gess M, Drake I, Aldersley M, Davies M, Jones R, McNair A, Srirajaskanthan R, Pitcher M, Sen S, Bird G, Barnardo A, Kitchen P, Yoong K, Chirag O, Sivaramakrishnan N, MacFaul G, Jones D, Shah A, Evans C, Saha S, Pollock K, Bramley P, Mukhopadhya A, Fraser A, Mills P, Shallcross C, Campbell S, Bathgate A, Shepherd A, Dillon J, Rushbrook S, Przemioslo R, Macdonald C, Metcalf J, Shmueli U, Davis A, Naqvi A, Lee T, Ryder S, Collier J, Klass H, Ninkovic M, Cramp M, Sharer N, Aspinall R, Goggin P, Ghosh D, Douds A, Hoeroldt B, Booth J, Williams E, Hussaini H, Stableforth W, Ayres R, Thorburn D, Marshall E, Burroughs A, Mann S, Lombard M, Richardson P, Patanwala I, Maltby J, Brookes M, Mathew R, Vyas S, Singhal S, Gleeson D, Misra S, Butterworth J, George K, Harding T, Douglass A, Panter S, Shearman J, Bray G, Butcher G, Forton D, Mclindon J, Cowan M, Whatley G, Mandal A, Gupta H, Sanghi P, Jain S, Pereira S, Prasad G, Watts G, Wright M, Neuberger J, Gordon F, Unitt E, Grant A, Delahooke T, Higham A, Brind A, Cox M, Ramakrishnan S, King A, Collins C, Whalley S, Li A, Fraser J, Bell A, Wong V, Singhal A, Gee I, Ang Y, Ransford R, Gotto J, Millson C, Bowles J, Thomas C, Harrison M, Galaska R, Kendall J, Whiteman J, Lawlor C, Gray C, Elliott K, Mulvaney-Jones C, Hobson L, Van Duyvenvoorde G, Loftus A, Seward K, Penn R, Maiden J, Damant R, Hails J, Cloudsdale R, Silvestre V, Glenn S, Dungca E, Wheatley N, Doyle H, Kent M, Hamilton C, Braim D, Wooldridge H, Abrahams R, Paton A, Lancaster N, Gibbins A, Hogben K, Desousa P, Muscariu F, Musselwhite J, McKay A, Tan L, Foale C, Brighton J, Flahive K, Nambela E, Townshend P, Ford C, Holder S, Palmer C, Featherstone J, Nasseri M, Sadeghian J, Williams B, Thomas C, Rolls S, Hynes A, Duggan C, Jones S, Crossey M, Stansfield G, MacNicol C, Wilkins J, Wilhelmsen E, Raymode P, Lee H, Durant E, Bishop R, Ncube N, Tripoli S, Casey R, Cowley C, Miller R, Houghton K, Ducker S, Wright F, Bird B, Baxter G, Keggans J, Hughes M, Grieve E, Young K, Williams D, Ocker K, Hines F, Martin K, Innes C, Valliani T, Fairlamb H, Thornthwaite S, Eastick A, Tanqueray E, Morrison J, Holbrook B, Browning J, Walker K, Congreave S, Verheyden J, Slininger S, Stafford L, O’Donnell D, Ainsworth M, Lord S, Kent L, March L, Dickson C, Simpson D, Longhurst B, Hayes M, Shpuza E, White N, Besley S, Pearson S, Wright A, Jones L, Gunter E, Dewhurst H, Fouracres A, Farrington L, Graves L, Marriott S, Leoni M, Tyrer D, Martin K, Dali-kemmery L, Lambourne V, Green M, Sirdefield D, Amor K, Colley J, Shinder B, Jones J, Mills M, Carnahan M, Taylor N, Boulton K, Tregonning J, Brown C, Clifford G, Archer E, Hamilton M, Curtis J, Shewan T, Walsh S, Warner K, Netherton K, Mupudzi M, Gunson B, Gitahi J, Gocher D, Batham S, Pateman H, Desmennu S, Conder J, Clement D, Gallagher S, Orpe J, Chan P, Currie L, O’Donohoe L, Oblak M, Morgan L, Quinn M, Amey I, Baird Y, Cotterill D, Cumlat L, Winter L, Greer S, Spurdle K, Allison J, Dyer S, Sweeting H, Kordula J, Consortium J, Aiba Y, Nakamura H, Abiru S, Nagaoka S, Komori A, Yatsuhashi H, Ishibashi H, Ito M, Kawai Y, Kohn S, Gervais O, Migita K, 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, Higuchi 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, Takikawa H, Ohira 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, 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, Tanaka T, Yamashiki N, Tamura S, Sugawara Y, Kokudo N, Carbone M, Cardamone G, Duga S, Gershwin M, Seldin M, Invernizzi P. X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis. Gastroenterology 2021, 160: 2483-2495.e26. PMID: 33675743, PMCID: PMC8169555, DOI: 10.1053/j.gastro.2021.02.061.Peer-Reviewed Original ResearchMeSH KeywordsAdultAsian PeopleCarrier ProteinsCell LineageChromosomes, Human, XDNA-Binding ProteinsEndopeptidasesFemaleForkhead Transcription FactorsGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLinkage DisequilibriumLiver Cirrhosis, BiliaryMaleMitochondrial Precursor Protein Import Complex ProteinsMonosaccharide Transport ProteinsOdds RatioPolymorphism, Single NucleotideProtein Serine-Threonine KinasesProto-Oncogene ProteinsShal Potassium ChannelsWhite PeopleConceptsGenome-wide significant lociAssociation studiesSignificant lociX chromosome variantsGenome-wide association studiesWide association studyMarker association analysisLinkage disequilibrium blockGenetic architectureSuggestive signalsChromosome contributionsChromosome variantsLineage specification factorDisequilibrium blockSpecification factorAssociation analysisGenotype dataEast Asian individualsGenesOTUD5LociRNA levelsComplex autoimmune diseaseFirst comprehensive studySuperenhancers
2019
The challenges of primary biliary cholangitis: What is new and what needs to be done
Terziroli Beretta-Piccoli B, Mieli-Vergani G, Vergani D, Vierling JM, Adams D, Alpini G, Banales JM, Beuers U, Björnsson E, Bowlus C, Carbone M, Chazouillères O, Dalekos G, De Gottardi A, Harada K, Hirschfield G, Invernizzi P, Jones D, Krawitt E, Lanzavecchia A, Lian ZX, Ma X, Manns M, Mavilio D, Quigley EM, Sallusto F, Shimoda S, Strazzabosco M, Swain M, Tanaka A, Trauner M, Tsuneyama K, Zigmond E, Gershwin ME. The challenges of primary biliary cholangitis: What is new and what needs to be done. Journal Of Autoimmunity 2019, 105: 102328. PMID: 31548157, DOI: 10.1016/j.jaut.2019.102328.Peer-Reviewed Original ResearchMeSH KeywordsAntibodies, AntinuclearAutoimmune DiseasesChenodeoxycholic AcidCholagogues and CholereticsCongresses as TopicFemaleHumansLiverLiver Cirrhosis, BiliaryUrsodeoxycholic AcidConceptsPrimary biliary cholangitisAnti-mitochondrial autoantibodiesBiochemical cholestasisBiliary cholangitisBiliary epitheliumUrsodeoxycholic acidPBC-specific anti-nuclear antibodiesBile acidsToxic hydrophobic bile acidsAutoimmune liver diseaseSecond-line treatmentFirst-line treatmentAnti-nuclear antibodiesReliable disease markersEarly disease stagesCholestatic biochemical profileNew therapeutic approachesHydrophobic bile acidsAutoimmune originSeronegative casesLiver histologyAutoimmune attackFemale preponderanceHistologic confirmationImmunologic pathways
2013
EASL Recognition Awardee 2013 Professor Jesus Prieto
Strazzabosco M. EASL Recognition Awardee 2013 Professor Jesus Prieto. Journal Of Hepatology 2013, 59: 408-410. PMID: 23764136, DOI: 10.1016/j.jhep.2013.05.012.Peer-Reviewed Original Research
2010
Genome-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, Selmi C, Lupoli S, Shigeta R, Ransom M, Lleo A, Lee AT, Mason AL, Myers RP, Peltekian KM, Ghent CN, Bernuzzi F, Zuin M, Rosina F, Borghesio E, Floreani A, Lazzari R, Niro G, Andriulli A, Muratori L, Muratori P, Almasio PL, Andreone P, Margotti M, Brunetto M, Coco B, Alvaro D, Bragazzi MC, Marra F, Pisano A, Rigamonti C, Colombo M, Marzioni M, Benedetti A, Fabris L, Strazzabosco M, Portincasa P, Palmieri VO, Tiribelli C, Croce L, Bruno S, Rossi S, Vinci M, Prisco C, Mattalia A, Toniutto P, Picciotto A, Galli A, Ferrari C, Colombo S, Casella G, Morini L, Caporaso N, Colli A, Spinzi G, Montanari R, Gregersen PK, Heathcote EJ, Hirschfield GM, Siminovitch KA, Amos CI, Gershwin ME, Seldin MF. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. Nature Genetics 2010, 42: 658-660. PMID: 20639880, PMCID: PMC3150510, DOI: 10.1038/ng.627.Peer-Reviewed Original Research
2001
Proinflammatory Cytokines Inhibit Secretion in Rat Bile Duct Epithelium
Spirlı̀ C, Nathanson M, Fiorotto R, Duner E, Denson L, Sanz J, Di Virgilio F, Okolicsanyi L, Casagrande F, Strazzabosco M. Proinflammatory Cytokines Inhibit Secretion in Rat Bile Duct Epithelium. Gastroenterology 2001, 121: 156-169. PMID: 11438505, DOI: 10.1053/gast.2001.25516.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBile DuctsColforsinCytokinesDrug InteractionsElectrolytesHydrogen-Ion ConcentrationLiver Cirrhosis, BiliaryMaleRatsRats, Sprague-DawleyConceptsProinflammatory cytokinesFluorescein-labeled dextranIL-1Interferon gammaCAMP-dependent fluid secretionCystic fibrosis transmembrane conductance regulatorBile duct epitheliumRat bile duct epitheliaTumor necrosis factorCyclic adenosine monophosphate levelsSecretin receptorAdenosine monophosphate levelsBile duct unitsDuctular cholestasisPortal inflammationCholestatic disordersIL-6Inflammatory cytokinesTNF-alphaBiliary epitheliumNecrosis factorCellular cyclic adenosine monophosphate (cAMP) levelsDuct epitheliumPurinergic agonistsSR expression