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
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