{"doi":"10.1101/2021.06.15.21258641","title":"Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility","abstract":"Abstract Genome-wide association studies (GWAS) have identified hundreds of loci associated with Crohns disease (CD), however, as with all complex diseases, deriving pathogenic mechanisms from these non-coding GWAS discoveries has been challenging. To complement GWAS and better define actionable biological targets, we analysed sequenced data from more than 30,000 CD patients and 80,000 population controls. We observe rare coding variants in established CD susceptibility genes as well as ten genes where coding variation directly implicates the gene in disease risk for the first time.","journal":"medRxiv","year":2021,"id":214213,"datarank":0.5002054989474478,"base_score":2.4849066497880004,"endowment":2.4849066497880004,"self_citation_contribution":0.37273599746820013,"citation_network_contribution":0.12746950147924765,"self_endowment_contribution":0.37273599746820013,"citer_contribution":0.12746950147924765,"corpus_percentile":null,"corpus_rank":null,"citation_count":11,"citer_count":3,"citers_with_citation_signal":2,"citers_with_endowment":2,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.5027,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":27303,"name":"Christine Stevens","orcid":"0000-0002-2621-2234","position":1,"is_corresponding":false},{"id":249602,"name":"Guhan Venkataraman","orcid":"0000-0003-0754-6631","position":2,"is_corresponding":false},{"id":557976,"name":"Kai Yuan","orcid":"0000-0002-8460-6581","position":3,"is_corresponding":false},{"id":807130,"name":"Brandon E. Avila","orcid":"0000-0002-8617-7186","position":4,"is_corresponding":false},{"id":513245,"name":"María T. Abreu","orcid":"0000-0002-7294-0574","position":5,"is_corresponding":false},{"id":262396,"name":"Tariq Ahmad","orcid":"0000-0002-6058-5528","position":6,"is_corresponding":false},{"id":629668,"name":"Matthieu Allez","orcid":"0000-0002-2012-7522","position":7,"is_corresponding":false},{"id":51742,"name":"Ashwin N. Ananthakrishnan","orcid":"0000-0002-9436-1821","position":8,"is_corresponding":false},{"id":1031,"name":"Gil Atzmon","orcid":"0000-0001-6895-3607","position":9,"is_corresponding":false},{"id":327038,"name":"Aris Baras","orcid":"0000-0002-6830-3396","position":10,"is_corresponding":false},{"id":18886,"name":"Jeffrey C. Barrett","orcid":"0000-0002-1152-370X","position":11,"is_corresponding":false},{"id":90076,"name":"Nir Barzilai","orcid":"0000-0002-7787-6268","position":12,"is_corresponding":false},{"id":311753,"name":"Laurent Beaugerie","orcid":"0000-0002-5012-4146","position":13,"is_corresponding":false},{"id":424514,"name":"Ashley Beecham","orcid":"0000-0003-4349-4584","position":14,"is_corresponding":false},{"id":5127,"name":"Çharles N. Bernstein","orcid":"0000-0001-8041-3574","position":15,"is_corresponding":false},{"id":685434,"name":"Alain Bitton","orcid":"0000-0001-7214-1978","position":16,"is_corresponding":false},{"id":807131,"name":"Bernd Bokemeyer","orcid":"0000-0003-2016-6991","position":17,"is_corresponding":false},{"id":105245,"name":"Andrew Chan","orcid":"0000-0003-3434-7283","position":18,"is_corresponding":false},{"id":336590,"name":"Daniel C. Chung","orcid":"0000-0001-8226-7005","position":19,"is_corresponding":false},{"id":263873,"name":"Isabelle Cleynen","orcid":"0000-0003-0857-7683","position":20,"is_corresponding":false},{"id":807132,"name":"Jacques Cosnes","orcid":"0000-0001-8165-3502","position":21,"is_corresponding":false},{"id":263886,"name":"David J. Cutler","orcid":"0000-0001-6394-6731","position":22,"is_corresponding":false},{"id":117949,"name":"Allan Daly","orcid":null,"position":23,"is_corresponding":false},{"id":807133,"name":"Oriana M. Damas","orcid":"0000-0002-9256-190X","position":24,"is_corresponding":false},{"id":549761,"name":"Lisa W. Datta","orcid":null,"position":25,"is_corresponding":false},{"id":366501,"name":"Noor Dawany","orcid":"0000-0003-2983-3893","position":26,"is_corresponding":false},{"id":85476,"name":"Marcella Devoto","orcid":"0000-0002-4431-5114","position":27,"is_corresponding":false},{"id":24581,"name":"Sheila Dodge","orcid":null,"position":28,"is_corresponding":false},{"id":571032,"name":"Eva Ellinghaus","orcid":"0000-0003-2914-3382","position":29,"is_corresponding":false},{"id":249313,"name":"Laura Fachal","orcid":"0000-0002-7256-9752","position":30,"is_corresponding":false},{"id":1149,"name":"Martti Färkkilâ","orcid":"0000-0002-0250-8559","position":31,"is_corresponding":false},{"id":706619,"name":"William A. Faubion","orcid":"0000-0003-1291-5745","position":32,"is_corresponding":false},{"id":56267,"name":"Manuel A. R. Ferreira","orcid":"0000-0001-9059-1825","position":33,"is_corresponding":false},{"id":807134,"name":"Denis Franchimont","orcid":"0000-0001-8856-3462","position":34,"is_corresponding":false},{"id":226943,"name":"Stacey Gabriel","orcid":"0000-0001-6939-2215","position":35,"is_corresponding":false},{"id":108744,"name":"Michel Georges","orcid":"0000-0003-4124-2375","position":36,"is_corresponding":false},{"id":290518,"name":"Kyle Gettler","orcid":null,"position":37,"is_corresponding":false},{"id":289520,"name":"Mamta Giri","orcid":"0000-0002-9019-515X","position":38,"is_corresponding":false},{"id":1152,"name":"Benjamin Gläser","orcid":"0000-0003-4711-5000","position":39,"is_corresponding":false},{"id":807613,"name":"Siegfried Goerg","orcid":null,"position":40,"is_corresponding":false},{"id":686051,"name":"Philippe Goyette","orcid":null,"position":41,"is_corresponding":false},{"id":6340,"name":"Daniel B. Graham","orcid":"0000-0002-8403-8115","position":42,"is_corresponding":false},{"id":79261,"name":"Eija Hämäläinen","orcid":null,"position":43,"is_corresponding":false},{"id":323341,"name":"Talin Haritunians","orcid":"0000-0002-9005-7750","position":44,"is_corresponding":false},{"id":807135,"name":"Graham Heap","orcid":"0000-0003-4131-6792","position":45,"is_corresponding":false},{"id":258675,"name":"Mikko Hiltunen","orcid":"0000-0003-1508-4908","position":46,"is_corresponding":false},{"id":807614,"name":"Marc Hoeppner","orcid":null,"position":47,"is_corresponding":false},{"id":271380,"name":"Julie Horowitz","orcid":"0000-0002-8093-4182","position":48,"is_corresponding":false},{"id":446886,"name":"Peter M. Irving","orcid":"0000-0003-0972-8148","position":49,"is_corresponding":false},{"id":292734,"name":"Vivek Iyer","orcid":"0000-0002-7536-0954","position":50,"is_corresponding":false},{"id":607913,"name":"Chaim Jalas","orcid":"0000-0002-3788-0924","position":51,"is_corresponding":false},{"id":287831,"name":"Judith R. Kelsen","orcid":"0000-0003-0038-318X","position":52,"is_corresponding":false},{"id":51740,"name":"Hamed Khalili","orcid":"0000-0002-7956-6941","position":53,"is_corresponding":false},{"id":546772,"name":"Barbara S. Kirschner","orcid":"0000-0003-4640-2438","position":54,"is_corresponding":false},{"id":749615,"name":"Kimmo Kontula","orcid":"0000-0001-6195-4332","position":55,"is_corresponding":false},{"id":251620,"name":"Jukka Koskela","orcid":"0000-0002-0154-7222","position":56,"is_corresponding":false},{"id":1078,"name":"Subra Kugathasan","orcid":"0000-0002-8686-4189","position":57,"is_corresponding":false},{"id":608939,"name":"Juozas Kupčinskas","orcid":"0000-0002-8760-7416","position":58,"is_corresponding":false},{"id":684644,"name":"Christopher A Lamb","orcid":"0000-0002-7271-4956","position":59,"is_corresponding":false},{"id":18659,"name":"Matthias Laudes","orcid":"0000-0002-7846-955X","position":60,"is_corresponding":false},{"id":807136,"name":"Adam P. Levine","orcid":"0000-0003-1333-9938","position":61,"is_corresponding":false},{"id":49763,"name":"James D. Lewis","orcid":"0000-0003-3107-3862","position":62,"is_corresponding":false},{"id":807137,"name":"Claire Liefferinckx","orcid":"0000-0002-2046-4051","position":63,"is_corresponding":false},{"id":807615,"name":"Britt-Sabina Loescher","orcid":null,"position":64,"is_corresponding":false},{"id":697923,"name":"Édouard Louis","orcid":"0000-0002-1287-7075","position":65,"is_corresponding":false},{"id":807138,"name":"John Mansfield","orcid":"0000-0003-2490-7750","position":66,"is_corresponding":false},{"id":807616,"name":"Sandra May","orcid":null,"position":67,"is_corresponding":false},{"id":95096,"name":"Jacob L. McCauley","orcid":"0000-0002-1805-1733","position":68,"is_corresponding":false},{"id":414153,"name":"Emebet Mengesha","orcid":"0000-0001-7830-1557","position":69,"is_corresponding":false},{"id":87289,"name":"Myriam Mni","orcid":null,"position":70,"is_corresponding":false},{"id":282384,"name":"Paul Moayyedi","orcid":"0000-0002-3616-9292","position":71,"is_corresponding":false},{"id":807139,"name":"Christopher J. Moran","orcid":"0000-0003-1966-3499","position":72,"is_corresponding":false},{"id":308108,"name":"Rodney D. Newberry","orcid":"0000-0002-4152-5191","position":73,"is_corresponding":false},{"id":807617,"name":"Sirimon O’Charoen","orcid":null,"position":74,"is_corresponding":false},{"id":571045,"name":"David T. Okou","orcid":"0000-0001-6473-5012","position":75,"is_corresponding":false},{"id":646090,"name":"Bas Oldenburg","orcid":"0000-0002-3962-6831","position":76,"is_corresponding":false},{"id":536710,"name":"Harry Ostrer","orcid":"0000-0002-2209-5376","position":77,"is_corresponding":false},{"id":1102,"name":"Aarno Palotie","orcid":"0000-0002-2527-5874","position":78,"is_corresponding":false},{"id":243015,"name":"Joel Pekow","orcid":"0000-0002-4790-8994","position":79,"is_corresponding":false},{"id":432691,"name":"Inga Peter","orcid":"0000-0002-5638-9137","position":80,"is_corresponding":false},{"id":807140,"name":"Marieke Pierik","orcid":"0000-0001-6981-6516","position":81,"is_corresponding":false},{"id":807141,"name":"Cyriel Y. Ponsioen","orcid":"0000-0001-5203-0453","position":82,"is_corresponding":false},{"id":638911,"name":"Nikolas Pontikos","orcid":"0000-0003-1782-4711","position":83,"is_corresponding":false},{"id":807142,"name":"Natalie J. Prescott","orcid":"0000-0002-5901-7371","position":84,"is_corresponding":false},{"id":1105,"name":"Ann E. Pulver","orcid":"0000-0002-5929-9161","position":85,"is_corresponding":false},{"id":632252,"name":"Souad Rahmouni","orcid":"0000-0003-0956-0242","position":86,"is_corresponding":false},{"id":103512,"name":"Daniel L Rice","orcid":"0000-0002-2972-0365","position":87,"is_corresponding":false},{"id":260789,"name":"Päivi Saavalainen","orcid":"0000-0002-1399-1689","position":88,"is_corresponding":false},{"id":235306,"name":"Bruce E. Sands","orcid":"0000-0001-5762-5042","position":89,"is_corresponding":false},{"id":36349,"name":"R. Balfour Sartor","orcid":"0000-0002-7820-632X","position":90,"is_corresponding":false},{"id":494436,"name":"Elena Schiff","orcid":"0000-0002-9848-1302","position":91,"is_corresponding":false},{"id":14022,"name":"Stefan Schreiber","orcid":"0000-0003-2254-7771","position":92,"is_corresponding":false},{"id":807618,"name":"L. Philip Schuum","orcid":null,"position":93,"is_corresponding":false},{"id":807143,"name":"Anthony W. Segal","orcid":"0000-0001-7602-9043","position":94,"is_corresponding":false},{"id":311752,"name":"Philippe Seksik","orcid":"0000-0003-3596-9893","position":95,"is_corresponding":false},{"id":807619,"name":"Rasha Shawky","orcid":null,"position":96,"is_corresponding":false},{"id":525087,"name":"Shehzad Z. Sheikh","orcid":"0000-0002-4238-3674","position":97,"is_corresponding":false},{"id":250799,"name":"Mark S. Silverberg","orcid":"0000-0002-9534-1419","position":98,"is_corresponding":false},{"id":60565,"name":"Alison Simmons","orcid":"0000-0003-3454-0710","position":99,"is_corresponding":false},{"id":289524,"name":"Aleksejs Sazonovs","orcid":"0009-0002-2413-0451","position":0,"is_corresponding":true}],"reference_count":65,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-18T23:52:41.672172Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}