International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways
Heather J. Cordell(Newcastle University), Younghun Han(Dartmouth College), George Mells(University of Cambridge), Yafang Li(Dartmouth College), Gideon M. Hirschfield(NIHR Birmingham Liver Biomedical Research Unit), Casey S. Greene(Dartmouth College), Gang Xie(Mount Sinai Hospital), Brian D. Juran(Mayo Clinic), Dakai Zhu(Dartmouth College), David C. Qian(Dartmouth College), James Floyd(Queen Mary University of London), Katherine I. Morley(King's College London), Daniele Prati(Alessandro Manzoni Hospital), Ana Lleò(Humanitas University), Daniele Cusi(University of Milan), Erik M. Schlicht(Mayo Clinic), Craig Lammert(Mayo Clinic), Elizabeth J. Atkinson(Mayo Clinic), Landon L. Chan(Mayo Clinic), Mariza de Andrade(Mayo Clinic), Tobias Balschun(Christian-Albrechts-Universität zu Kiel), Andrew L. Mason(University of Alberta), Robert P. Myers(University of Calgary), Jinyi Zhang(Mount Sinai Hospital), Piotr Milkiewicz(Pomeranian Medical University), Jia Qu(Wenzhou Medical University), Joseph A. Odin(Icahn School of Medicine at Mount Sinai), Velimir A. Luketic(Virginia Commonwealth University), Bruce R. Bacon(Saint Louis University), Henry C. Bodenheimer(Mount Sinai Beth Israel), Valentina Liakina(Vilnius University), Catherine Vincent(Hôpital Saint-Luc), Cynthia Levy(University of Miami), Peter K. Gregersen(Northwell Health), Italian PBC Genetics Study Group(University of Palermo), Piero Luigi Almasio(University of Palermo), Domenico Alvaro(IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola), Pietro Andreoné(Casa Sollievo della Sofferenza), Angelo Andriulli(University of Milan), Cristina Barlassina(University of Milan), Pier Maria Battezzati(Marche Polytechnic University), A. Benedetti(Marche Polytechnic University), Francesca Bernuzzi(Humanitas University), Ilaria Bianchi(Humanitas University), Maria Consiglia Bragazzi(Azienda Ospedaliera Universitaria Pisana), Maurizia Rossana Brunetto(Humanitas University), Savino Bruno(Humanitas University), Giovanni Casella(Azienda Ospedaliera Universitaria Pisana), B. Coco(Alessandro Manzoni Hospital), Agostino Colli(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Massimo Colombo(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Sílvia Colombo(IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola), Carmela Cursaro(University of Trieste), Lory Saveria Crocè(University of Trieste), Andrea Crosignani(University of Milan), Maria Francesca Donato(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), G. Elia(University of Padua), Luca Fabris(University of Padua), Carlo Ferrari(University of Padua), Annarosa Floreani(University of Padua), Barbara Foglieni(Casa Sollievo della Sofferenza), Rosanna Fontana(Casa Sollievo della Sofferenza), Andrea Galli(University of Padua), Roberta Lazzari(University of Padua), Fabio Salvatore Macaluso(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Federica Malinverno(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Fabio Marra(Marche Polytechnic University), Marco Marzioni(Marche Polytechnic University), Alberto Mattalia(Ospedale Sacro Cuore Don Calabria), R. Montanari(Ospedale Sacro Cuore Don Calabria), Lorenzo Morini(University of Naples Federico II), Filomena Morisco(Humanitas University), Hani S. Mousa(Humanitas University), Luigi Muratori(IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola), Paolo Muratori(Casa Sollievo della Sofferenza), Grazia Anna Niro(Casa Sollievo della Sofferenza), Vincenzo Ostilio Palmieri(University of Bari Aldo Moro), Antonio Picciotto(Humanitas University), Mauro Podda(Humanitas University), Piero Portincasa(Humanitas University), Vincenzo Ronca(Humanitas University), F. Rosina(Humanitas University), Sonia Rossi(Humanitas University), Ilaria Sogno(Humanitas University), Giancarlo Spinzi(Alessandro Manzoni Hospital), Marta Spreafico(Yale University), Mario Strazzabosco(Yale University), Sonia Tarallo(University of Florence), Mirko Tarocchi(University of Trieste), Claudio Tiribelli(University of Udine), Pierluigi Toniutto(University of Udine), Maria Cristina Vinci(University of Milan), Massimo Zuin(Swansea Bay University Health Board), Chin Lye Ch’ng(Swansea Bay University Health Board), Mesbah Rahman(Neath Port Talbot Hospital), Tom Yapp(University of Liverpool), Richard Sturgess(University of Liverpool), Christopher Healey(Nevill Hall Hospital), Marek Czajkowski(Royal Gwent Hospital), Anton Gunasekera(King George Hospital), Pranab Gyawali(Barking, Havering And Redbridge University Hospitals NHS Trust), Purushothaman Premchand(Barking, Havering And Redbridge University Hospitals NHS Trust), Kapil Kapur(Barts Health NHS Trust), Richard Marley(Barts Health NHS Trust), Graham R. Foster(Barts Health NHS Trust), Alan Watson(Barts Health NHS Trust), Aruna Dias(Barts Health NHS Trust), Javaid Subhani(Basildon and Thurrock University Hospitals NHS Foundation Trust), Rory Harvey(Belfast Health and Social Care Trust), Roger McCorry(Glan Clwyd Hospital), David Ramanaden(Glan Clwyd Hospital), Jaber Gasem(Betsi Cadwaladr University Health Board), Richard Evans(Betsi Cadwaladr University Health Board), Thiriloganathan Mathialahan(Betsi Cadwaladr University Health Board), C Shorrock(University of Liverpool), George Lipscomb(Bradford Royal Infirmary), Paul Southern(Bradford Royal Infirmary), Jeremy Tibble(Amersham Hospital), David Gorard(Amersham Hospital), Altaf Palegwala(Calderdale Royal Hospital), Susan Jones(Calderdale Royal Hospital), Marco Carbone(Cambridge University Hospitals NHS Foundation Trust), Mohamed Dawwas(Cambridge University Hospitals NHS Foundation Trust), Graeme Alexander(Cardiff and Vale University Health Board), Sunil Dolwani(Cardiff and Vale University Health Board), Martin Prince(Chelsea and Westminster Hospital NHS Foundation Trust), Matthew Foxton(Chelsea and Westminster Hospital NHS Foundation Trust), David Elphick(Chesterfield Royal Hospital NHS Foundation Trust), Harriet Mitchison(Colchester Hospital), Ian Gooding(University of Liverpool), Mazn Karmo(University of Liverpool), Sushma Saksena(County Durham and Darlington NHS Foundation Trust), Mike Mendall(Croydon University Hospital), Minesh Patel(Royal Glamorgan Hospital), Roland Ede(Oxleas NHS Foundation Trust), Andrew Austin(Royal Derby Hospital), Joanna Sayer(Doncaster Royal Infirmary), Lorraine Hankey(Dorset County Hospital NHS Foundation Trust), Christopher Hovell(Russells Hall Hospital), Neil Fisher(Russells Hall Hospital), Martyn Carter(Queen Elizabeth II Hospital), Konrad Koss(East Kent Hospitals University NHS Foundation Trust), Andrzej Piotrowicz(William Harvey Hospital), Charles Grimley(Conquest Hospital), David E. Neal(Conquest Hospital), Guan Lim(Heatherwood Hospital), Sass Levi(Wexham Park Hospital), Aftab Ala(Frimley Health NHS Foundation Trust), Andrea Broad(Gateshead Health NHS Foundation Trust), Athar A. Saeed(George Eliot Hospital), Gordon Wood(Cheltenham General Hospital), Jonathan Brown(Guy's Hospital), Mark Wilkinson(Guy's Hospital), Harriet Gordon(Royal Hampshire County Hospital), John Ramage(Harrogate and District NHS Foundation Trust), Jo Ridpath(Good Hope Hospital), Theodore Ngatchu(Good Hope Hospital), Bob Grover(Hillingdon Hospitals NHS Foundation Trust), Syed Shahid Shaukat(Hinchingbrooke Hospital), Ray Shidrawi(Castle Hill Hospital), George Abouda(Hull and East Yorkshire Hospitals NHS Trust), Faiz Ali(Withybush General Hospital), Ian Rees(Glangwili General Hospital), Imroz Salam(Bronglais General Hospital), Mark Narain(Imperial College Healthcare NHS Trust), Ashley Brown(Imperial College Healthcare NHS Trust), Simon D. Taylor‐Robinson(Imperial College Healthcare NHS Trust), Simon Williams(Isle of Wight NHS Trust), Leonie Grellier(James Paget University Hospital), Paul Banim(James Paget University Hospital), Debashis Das(Kettering General Hospital), Andrew Chilton(Kettering General Hospital), Michael A. Heneghan(King's College Hospital NHS Foundation Trust), Howard J. Curtis(Princess Royal University Hospital), Markus Gess(Lancashire Teaching Hospitals NHS Foundation Trust), Ian Drake(Lancashire Teaching Hospitals NHS Foundation Trust), Mark Aldersley(Leeds General Infirmary), Mervyn H. Davies(Leeds General Infirmary), Rebecca Jones(Leeds General Infirmary), Alastair McNair(Lewisham and Greenwich NHS Trust), Raj Srirajaskanthan(London North West Healthcare NHS Trust), Maxton Pitcher(Luton and Dunstable University Hospital NHS Foundation Trust), Sambit Sen(Maidstone and Tunbridge Wells NHS Trust), George Bird(Maidstone and Tunbridge Wells NHS Trust), Adrian Barnardo(Medway NHS Foundation Trust), Paul Kitchen(Mid Cheshire Hospitals NHS Foundation Trust), Kevin Yoong(Mid Cheshire Hospitals NHS Foundation Trust), Oza Chirag(Broomfield Hospital), Nurani Sivaramakrishnan(Milton Keynes Hospital), George MacFaul(Newcastle upon Tyne Hospitals NHS Foundation Trust), David Jones(NHS Ayrshire and Arran), Amir Shah(NHS Ayrshire and Arran), Chris Evans(Dumfries and Galloway Royal Infirmary), Subrata Saha(Dumfries and Galloway Royal Infirmary), Katharine Pollock(NHS Fife), Peter Bramley(Aberdeen Royal Infirmary), Ashis Mukhopadhya(Aberdeen Royal Infirmary), Andrew Fraser(NHS Greater Glasgow and Clyde), Peter R. Mills(Inverclyde Royal Hospital), Christopher Shallcross(NHS Lanarkshire), S. Campbell(NHS Lothian), Andrew Bathgate(NHS Lothian), Alan Shepherd(Perth Royal Infirmary), John Dillon(Norfolk and Norwich University Hospitals NHS Foundation Trust), Simon Rushbrook(North Bristol NHS Trust), Robert Przemioslo(North Bristol NHS Trust), Christopher Macdonald(North Tees and Hartlepool NHS Foundation Trust), Jane Metcalf(North Tees and Hartlepool NHS Foundation Trust), Udi Shmueli(North Devon District Hospital), A. Davis(North Devon District Hospital), Asifabbas Naqvi(Scunthorpe General Hospital), Tom Lee(Nottingham University Hospitals NHS Trust), Stephen Ryder(Nottingham University Hospitals NHS Trust), Jane Collier(Pennine Acute Hospitals NHS Trust), Howard Klass(Pennine Acute Hospitals NHS Trust), Mary Ninkovic(Peterborough City Hospital), Matthew Cramp(Poole Hospital), Nicholas M. Sharer(Poole Hospital), Richard Aspinall(Queen Alexandra Hospital), Patrick Goggin(Princess Alexandra Hospital NHS Trust), Deb Ghosh(Princess Alexandra Hospital NHS Trust), Andrew Douds(Queen Elizabeth Hospital King's Lynn NHS Foundation Trust), Barbara Hoeroldt(Royal Berkshire Hospital), Jonathan Booth(Royal Bournemouth Hospital), Earl Williams(Royal Cornwall Hospital Trust), Hyder Hussaini(Royal Cornwall Hospital Trust), William Stableforth(Royal Devon & Exeter NHS Foundation Trust), Reuben Ayres(Royal Free London NHS Foundation Trust), Douglas Thorburn(Royal Free London NHS Foundation Trust), Eileen Marshall(Royal Free London NHS Foundation Trust), Andrew K. Burroughs(Royal Free London NHS Foundation Trust), Steven Mann(University of Liverpool), Martin Lombard(University of Liverpool), Paul Richardson(University of Liverpool), Imran Patanwala(University of Liverpool), Julia Maltby(New Cross Hospital), Matthew Brookes(New Cross Hospital), Ray Mathew(Salisbury District Hospital), Samir Vyas(Salisbury District Hospital), Saket Singhal(Sandwell & West Birmingham Hospitals NHS Trust), Dermot Gleeson(Sherwood Forest Hospitals NHS Foundation Trust), Sharat Misra(Sherwood Forest Hospitals NHS Foundation Trust), Jeff Butterworth(Torbay Hospital), Keith George(Lagan Valley Hospital), Tim Harding(Ulster Hospital), A. E. Douglass(South Tyneside District Hospital), Simon Panter(South Tyneside District Hospital), Jeremy Shearman(Southend University Hospital NHS Foundation Trust), Gary Bray(Southport and Ormskirk Hospital NHS Trust), Graham P. Butcher(St George's Hospital), Daniel Forton(St George's Hospital), John Mclindon(St Helens and Knowsley Teaching Hospitals NHS Trust), Matthew Cowan(East Surrey Hospital), Gregory Whatley(Lincoln County Hospital), Aditya Mandal(Lincoln County Hospital), Hemant Gupta(Lincoln County Hospital), Pradeep Sanghi(Lincoln County Hospital), Sanjiv Jain(University College Hospital), Steve Pereira(University College Hospital), Geeta Prasad(Wythenshawe Hospital), Gill Watts(Southampton General Hospital), Mark Wright(University Hospitals Birmingham NHS Foundation Trust), James Neuberger(University Hospitals Birmingham NHS Foundation Trust), F. Gordon(University Hospitals Bristol NHS Foundation Trust), Esther Unitt(Glenfield Hospital), Allister Grant(Leicester Royal Infirmary), Toby Delahooke(University Hospitals of Morecambe Bay NHS Foundation Trust), Andrew Higham(University Hospitals of Morecambe Bay NHS Foundation Trust), Alison Brind(University Hospitals of North Midlands NHS Trust), Mark Cox(Warrington and Halton Teaching Hospitals NHS Foundation Trust), S. Ramakrishnan(West Hertfordshire Hospitals NHS Trust), Alistair King(West Hertfordshire Hospitals NHS Trust), C.D. Collins(West Suffolk NHS Foundation Trust), Simon Whalley(West Suffolk NHS Foundation Trust), Andrew A. Li(Worthing Hospital), Jocelyn Fraser(Weston General Hospital), A.J. Bell(Weston General Hospital), Voi Shim Wong(Arrowe Park Hospital), Amit Singhal(Arrowe Park Hospital), Ian Gee(Worcestershire Acute Hospitals NHS Trust), Yeng Ang(Wrightington, Wigan and Leigh NHS Foundation Trust), Rupert Ransford(Yeovil District Hospital NHS Foundation Trust), James Gotto(Yeovil District Hospital NHS Foundation Trust), Charles Millson(Scarborough General Hospital), Jane Bowles(Great Western Hospital), Caradog Thomas(Swansea Bay University Health Board), Melanie Harrison(University of Liverpool), Roman Galaska(Ysbyty Ystrad Fawr), Jennie Kendall(Royal Gwent Hospital), Jessica Whiteman(Royal Gwent Hospital), Caroline Lawlor(Ashford Hospital), Catherine Gray(Barnsley Hospital NHS Foundation Trust), Keith Elliott(Betsi Cadwaladr University Health Board), Caroline Mulvaney-Jones(Glan Clwyd Hospital), Lucie Hobson(Glan Clwyd Hospital), Greta Van Duyvenvoorde(University of Liverpool), Alison Loftus(Bradford Royal Infirmary), Katie Seward(Bradford Royal Infirmary), Ruth Penn(Amersham Hospital), Jane Maiden(Burton Hospitals NHS Foundation Trust), Rose Damant(Burton Hospitals NHS Foundation Trust), Janeane Hails(Cardiff and Vale University Health Board), Rebecca Cloudsdale(Cardiff and Vale University Health Board), Valéria Damasceno Silvestre(Chelsea and Westminster Hospital NHS Foundation Trust), Sue Glenn(Chesterfield Royal Hospital NHS Foundation Trust), Eleanor Dungca(Colchester Hospital), Natalie Wheatley(University of Liverpool), Helen Doyle(University of Liverpool), Melanie Kent(County Durham and Darlington NHS Foundation Trust), Caroline Hamilton(Royal Glamorgan Hospital), Delyth Braim(Royal Glamorgan Hospital), Helen Wooldridge(Darent Valley Hospital), Rachel Abrahams(Royal Derby Hospital), Alison Paton(Royal Derby Hospital), Nicola Lancaster(Doncaster Royal Infirmary), Andrew Gibbins(Dorset County Hospital NHS Foundation Trust), Karen Hogben(Dorset County Hospital NHS Foundation Trust), Phillipa Desousa(William Harvey Hospital), Florin Muscariu(William Harvey Hospital), Janine Musselwhite(William Harvey Hospital), Alexandra McKay(Epsom and St Helier University Hospitals NHS Trust), LaiTing Tan(Epsom and St Helier University Hospitals NHS Trust), Carole Foale(Frimley Health NHS Foundation Trust), Jacqueline Brighton(George Eliot Hospital), Kerry Flahive(George Eliot Hospital), Estelle Nambela(Cheltenham General Hospital), Paula Townshend(Cheltenham General Hospital), Christopher M. Ford(Cheltenham General Hospital), Sophie M. Holder(Cheltenham General Hospital), Caroline Palmer(Harrogate and District NHS Foundation Trust), James Featherstone(Hillingdon Hospitals NHS Foundation Trust), Mariam Nasseri(Hillingdon Hospitals NHS Foundation Trust), Joy Sadeghian(Hull and East Yorkshire Hospitals NHS Trust), Bronwen Williams(Hull and East Yorkshire Hospitals NHS Trust), Carol Thomas(Swansea Bay University Health Board), Sally-Ann Rolls(Withybush General Hospital), Abigail Hynes(Bronglais General Hospital), Claire Duggan(Bronglais General Hospital), Sarah Jones(Imperial College Healthcare NHS Trust), Mary M.E. Crossey(Imperial College Healthcare NHS Trust), Glynis Stansfield(Ipswich Hospital), Carolyn MacNicol(Isle of Wight NHS Trust), Joy Wilkins(James Paget University Hospital), Elva Wilhelmsen(James Paget University Hospital), Parizade Raymode(Kettering General Hospital), Hye‐Jeong Lee(Lancashire Teaching Hospitals NHS Foundation Trust), Emma Durant(Lancashire Teaching Hospitals NHS Foundation Trust), Rebecca Bishop(Leeds General Infirmary), Noma Ncube(London North West Healthcare NHS Trust), Sherill Tripoli(Maidstone and Tunbridge Wells NHS Trust), Rebecca M. Casey(Maidstone and Tunbridge Wells NHS Trust), Caroline Cowley(Mid Cheshire Hospitals NHS Foundation Trust), Richard A. Miller(Mid Cheshire Hospitals NHS Foundation Trust), Kathryn Houghton(Newcastle upon Tyne Hospitals NHS Foundation Trust), Samantha Ducker(NHS Ayrshire and Arran), Fiona Wright(NHS Ayrshire and Arran), Bridget Bird(Dumfries and Galloway Royal Infirmary), Gwen Baxter(Dumfries and Galloway Royal Infirmary), Janie Keggans(Dumfries and Galloway Royal Infirmary), Maggie Hughes(Aberdeen Royal Infirmary), Emma Grieve(Aberdeen Royal Infirmary), Karin Young(Aberdeen Royal Infirmary), Dewi Williams(NHS Greater Glasgow and Clyde), Kate Ocker(NHS Greater Glasgow and Clyde), Frances Hines(NHS Lothian), K. Martin(NHS Lothian), Caron Innes(North Bristol NHS Trust), Talal Valliani(North Bristol NHS Trust), Helen Fairlamb(West Cumberland Hospital), Sarah Thornthwaite(North Tees and Hartlepool NHS Foundation Trust), Anne Eastick(North Tees and Hartlepool NHS Foundation Trust), Elizabeth Tanqueray(North Devon District Hospital), Jennifer Morrison(North Devon District Hospital), Becky Holbrook(North Devon District Hospital), Julie Browning(Scunthorpe General Hospital), Kirsten Walker(Nottingham University Hospitals NHS Trust), Susan Congreave(Nottingham University Hospitals NHS Trust), Juliette Verheyden(Nottingham University Hospitals NHS Trust), Susan Slininger(Nottingham University Hospitals NHS Trust), Lizzie Stafford(John Radcliffe Hospital), Denise O’Donnell(John Radcliffe Hospital), Mark Ainsworth(Oxleas NHS Foundation Trust), Susan Lord(Pennine Acute Hospitals NHS Trust), Linda Kent(Pennine Acute Hospitals NHS Trust), Linda March(Poole Hospital), Christine Dickson(Poole Hospital), Diane M. Simpson(Poole Hospital), Beverley Longhurst(Queen Alexandra Hospital), Maria Hayes(Princess Alexandra Hospital NHS Trust), Ervin Shpuza(Princess Alexandra Hospital NHS Trust), Nikki White(Princess Alexandra Hospital NHS Trust), Sarah Besley, Sallyanne Pearson(Royal Berkshire Hospital), Alice Wright(Royal Berkshire Hospital), Linda Jones(Royal Bournemouth Hospital), Emma Gunter(Royal Bournemouth Hospital), Hannah F. Dewhurst(Royal Cornwall Hospital Trust), Anna Fouracres(Royal Cornwall Hospital Trust), Liz Farrington(Royal Cornwall Hospital Trust), Lyn Graves(Royal Devon & Exeter NHS Foundation Trust), Suzie Marriott(Royal Free London NHS Foundation Trust), Marina Leoni(University of Liverpool), David Tyrer(University of Liverpool), Kate Martin(NHS Lothian), Lola Dali-Kemmery(Royal United Hospital), Victoria Lambourne(New Cross Hospital), Marie Green(New Cross Hospital), Dawn Sirdefield(University Hospitals of North Midlands NHS Trust), Kelly Amor(Sandwell & West Birmingham Hospitals NHS Trust), Julie Colley(Sandwell & West Birmingham Hospitals NHS Trust), Bal Shinder(Sandwell & West Birmingham Hospitals NHS Trust), Jayne Jones(Royal Hallamshire Hospital), Marisa Mills(Royal Hallamshire Hospital), Mandy Carnahan(Torbay Hospital), Natalie Taylor(Torbay Hospital), Kerenza Boulton(James Cook University Hospital), Julie Tregonning(South Tyneside District Hospital), Carly Brown(South Tyneside District Hospital), Gayle Clifford(South Tyneside District Hospital), Emily Archer(Southport and Ormskirk Hospital NHS Trust), Mária Hamilton(Southport and Ormskirk Hospital NHS Trust), Janette Curtis(East Surrey Hospital), Tracey Shewan(East Surrey Hospital), Sue Walsh(Lincoln County Hospital), Karen L. Warner(Lincoln County Hospital), Kimberley Netherton(Pilgrim Hospital), McDonald Mupudzi(University Hospitals Birmingham NHS Foundation Trust), Bridget Gunson(University Hospitals Birmingham NHS Foundation Trust), Jane Gitahi(University Hospitals Bristol NHS Foundation Trust), Denise Gocher(Glenfield Hospital), Sally Batham(Leicester General Hospital), Hilary Pateman(Leicester General Hospital), Senayon Desmennu(University Hospitals of Morecambe Bay NHS Foundation Trust), Jill Conder(University Hospitals of Morecambe Bay NHS Foundation Trust), Darren Clement(University Hospitals of North Midlands NHS Trust), Susan Gallagher(University Hospitals of North Midlands NHS Trust), Jacky Orpe(University Hospitals of North Midlands NHS Trust), PuiChing Chan(West Hertfordshire Hospitals NHS Trust), Lynn Currie(West Hertfordshire Hospitals NHS Trust), L O’Donohoe(West Hertfordshire Hospitals NHS Trust), Metod Oblak(West Suffolk NHS Foundation Trust), Lisa Morgan(West Suffolk NHS Foundation Trust), Marie Quinn(Worthing Hospital), Isobel Amey(St Richard's Hospital), Yolanda Baird(Weston General Hospital), Donna Cotterill(Weston General Hospital), Lourdes Cumlat(Wrightington, Wigan and Leigh NHS Foundation Trust), Louise de Winter(Wrightington, Wigan and Leigh NHS Foundation Trust), Sandra Greer(Yeovil District Hospital NHS Foundation Trust), Katie Spurdle(Yeovil District Hospital NHS Foundation Trust), Joanna Allison(Yeovil District Hospital NHS Foundation Trust), Simon Dyer(Scarborough General Hospital), Helen Sweeting(Great Western Hospital), Jean Kordula(Great Western Hospital), M. Eric Gershwin(Wellcome Sanger Institute), Carl A. Anderson(Mayo Clinic), Konstantinos N. Lazaridis(Mayo Clinic), Pietro Invernizzi(Humanitas University), Michael F. Seldin(University of Cambridge), Richard Sandford(Dartmouth College), Christopher I. Amos(Dartmouth College), Katherine A. Siminovitch(University of Toronto)
Cited by 310Open Access
Abstract
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10(-8)) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist.
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