2025
Genomics yields biological and phenotypic insights into bipolar disorder
Lee B, Kim J, Lee Y, Kang J, Cheon M, Kim D, Aslan M, Harvey P, Huang G. Genomics yields biological and phenotypic insights into bipolar disorder. Nature 2025, 639: 968-975. PMID: 39843750, PMCID: PMC12163093, DOI: 10.1038/s41586-024-08468-9.Peer-Reviewed Original ResearchFine-mappingGenetic architectureGenome-wide significant lociMulti-ancestry meta-analysisGenetic architecture of bipolar disorderRare variant signalsSignificant lociGenetic determinantsBipolar disorderVariant signalsLatino ancestryCell typesEast Asian cohortsPhenotypic insightsPathophysiology of bipolar disorderGenesMedium spiny neuronsBipolar disorder subtypesPatient ascertainmentAetiology of bipolar disorderGABAergic interneuronsSpiny neuronsAsian cohortGenomeGlobal burden
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 receptors
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