{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00010000288"],"sample_count":["6313"],"description":["EGA dataset EGAD00010000288"],"repository":["EGA"],"title":["Title not provided"],"pubmed_abstract":["We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P(combined) < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection. There was evidence to suggest associations for a further 13 regions. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P < 0.0028, FDR 5%) with cis gene expression."],"pubmed_title":["Multiple common variants for celiac disease influencing immune gene expression."],"pubmed_authors":["Dubois Patrick C A PC, Trynka Gosia G, Franke Lude L, Hunt Karen A KA, Romanos Jihane J, Curtotti Alessandra A, Zhernakova Alexandra A, Heap Graham A R GA, Adány Róza R, Aromaa Arpo A, Bardella Maria Teresa MT, van den Berg Leonard H LH, Bockett Nicholas A NA, de la Concha Emilio G EG, Dema Bárbara B, Fehrmann Rudolf S N RS, Fernández-Arquero Miguel M, Fiatal Szilvia S, Grandone Elvira E, Green Peter M PM, Groen Harry J M HJ, Gwilliam Rhian R, Houwen Roderick H J RH, Hunt Sarah E SE, Kaukinen Katri K, Kelleher Dermot D, Korponay-Szabo Ilma I, Kurppa Kalle K, MacMathuna Padraic P, Mäki Markku M, Mazzilli Maria Cristina MC, McCann Owen T OT, Mearin M Luisa ML, Mein Charles A CA, Mirza Muddassar M MM, Mistry Vanisha V, Mora Barbara B, Morley Katherine I KI, Mulder Chris J CJ, Murray Joseph A JA, Núñez Concepción C, Oosterom Elvira E, Ophoff Roel A RA, Polanco Isabel I, Peltonen Leena L, Platteel Mathieu M, Rybak Anna A, Salomaa Veikko V, Schweizer Joachim J JJ, Sperandeo Maria Pia MP, Tack Greetje J GJ, Turner Graham G, Veldink Jan H JH, Verbeek Wieke H M WH, Weersma Rinse K RK, Wolters Victorien M VM, Urcelay Elena E, Cukrowska Bozena B, Greco Luigi L, Neuhausen Susan L SL, McManus Ross R, Barisani Donatella D, Deloukas Panos P, Barrett Jeffrey C JC, Saavalainen Paivi P, Wijmenga Cisca C, van Heel David A DA"],"additional_accession":[]},"is_claimable":false,"name":"FinnuncorrNLITUK3hap550_no1958BC_noNBS - samples","description":"All cases and Finnish, Dutch, Italian control samples (Hap550)","dates":{"updated":"2019-10-31 12:52:10"},"accession":"EGAD00010000288","cross_references":{"TAXONOMY":["9606"],"pubmed":["20190752"],"EGA":["EGAC00001000205","EGAS00000000057"]}}