EGAGenomicsTranscriptome Analysishttps://ega-archive.org/studies/EGAS00001002642EGAEGA study EGAS00001002642Using genetics to identify cell types and mechanisms underlying susceptibility to primary sclerosing cholangitisEGArestrictedSclerosing, Cholangitides, dTAF[[II]]230, TAF[[II]]250, d230, Primary sclerosing cholangitis, TAF200, Primary Sclerosing, l(3)84Ab, dTAFII250, BG:DS00004.13, Primary, TAFII-250, TAF250/230, EfW1, Cell, Cholangiitis, dTAF230, dmTAF[[II]]230, primary sclerosing cholangitis (PSC), Primary Sclerosing., TAFII250, Cholangitis, Primary Sclerosing Cholangitides, Cholangiitides, dmTAF1, Taf230, heredity, p230, fibrosing cholangitis, TAF[[II]]250/230, TFIID, Sclerosing Cholangitides, sclerosing cholangitis, primary sclerosing cholangitis, TAF250, Sclerosing Cholangiitis, Taf[[II]]250, susceptibility, Taf200, dTAF[[II]]250, TAF[[II]]230, TFIID TAF250, cel, cell, Taf1p, TAF[II]250, CG17603, TAF[[II]], dTAF250, Sclerosing Cholangitis, DmelCG17603, Taf250, SR3-5, cholangitis, Sclerosing Cholangiitides, sclerosing cholangitis (disease), sclerosing, TAF, Primary Sclerosing Cholangitis, TAF230, TAF1MGC130048, Ribonucleic, Materials, PhrB photolyase activity, determination, Blood, l(2)vr14, Primary Sclerosing, A4, T-Lymphocyte, 49Ea, pigmented epithelium, ethical approval, EcR-B1, Publication., Relative, dmTAF[[II]]230, Readability, Cholangitis, Cholangiitides, T Lymphocyte, diseases, Associations, fibrosing cholangitis, Inflammatory bowel disease, diseases and disorders, 3, NUP96, immature T cell, epithelium, Non Polyadenylated, RNA Gene Products, imprinted and ancient gene protein, gamma sarcoglycan, human disease, thymus nucleic acid, TFIID TAF250, IBD, Genomes, cel, T-Cells, l(2)49Ea, pigmented retina, T, nucleic acid library preparation, DNA cyclobutane dipyrimidine photolyase activity, SUPPRESSOR OF AUXIN RESISTANCE 3, genetic, T Cells, Sclerosing Cholangitis, Inflammatory Bowel Diseases, DmelCG3886, gamma-sarcoglycan, Homo sapiens disease, Double-Stranded DNA, deoxyribonucleic acids, associated, DNAn, Thymus Dependent Lymphocytes, PRE, Biliary System, dTAF[[II]]230, wide/broad, ms(2)42A, Primary sclerosing cholangitis, lie, ribose nucleic acid, DEcR, deoxyribonucleic cyclobutane dipyrimidine photolyase activity, familial, SG-gamma, ribonucleic acids, TAF200, Double-Stranded, TAFII-250, TAF250/230, PSC, (Deoxyribonucleotide)n+m, TAFII250, Primary Sclerosing Cholangitides, retinal pigment, T-Cell, Ribonukleinsaeure, Relative Risks, Diseases, dipyrimidine photolyase (photosensitive), Genetic Materials, pentosenucleic acids, sarcoglycan, Ribonucleic acids, University, desoxyribose nucleic acid, retinal pigment layer, Genetic Material, dECR, biliary tract, psc, Acid, T-cell, Epistemology, EcRB-1, Risk, System, Thymus-Dependent, CG3886, whole genome, T-lymphocyte, CG17603, gamma (35kDa dystrophin-associated glycoprotein), TAF[[II]], Thymus-Dependent Lymphocyte, Dhr23, disease, wide, phr A photolyase activity, T cell, DMDA, NR1H1, DNA-photoreactivating enzyme, Taf250, Patient, Material, ms(2)06410, SR3-5, 35kD dystrophin-associated glycoprotein, cholangitis, PBMCs, Cells, ds DNA, autoimmune bowel disorder, Cistron, T Cell, inherited genetic, DNA, E430016J11Rik, TAF230, other disease, d230, Thymus-Dependent Lymphocytes, SGCG_HUMAN, DNS, (Deoxyribonucleotide)n, Gene, Coding, dTAFII250, broad, photoreactivating enzyme activity, Inflammatory Bowel Disease, Ximpact, EfW1, TYPE, Deoxyribonucleic acids, Cholangiitis, DAGA4, primary sclerosing cholangitis (PSC), DmelCG1765, Deoxyribonucleic Acid, Publication, dmTAF1, Taf230, PBMC, inflammatory bowel disease, 35DAG, Gene Products, disease or disorder, stratum pigmentosa retinae, Sclerosing Cholangitides, sclerosing cholangitis, MAM, gamma-SG, Medical, SCG3, primary sclerosing cholangitis, TAF250, Taf200, MOS3, dTAF[[II]]250, deoxyribocyclobutadipyrimidine pyrimidine-lyase activity, Genetic, Clinical, PRECOCIOUS, cell, Medical Coding, nucleic acid library construction, F23A5.3, Double Stranded, Taf1p, Deoxyribonucleic acid, non-neoplastic, Non-Polyadenylated RNA, dTAF250, Clients, mature T cell, Biliary, Sclerosing Cholangiitides, Chronic, disorder, sclerosing cholangitis (disease), CG8347, ECR, Ecr, (Deoxyribonucleotide)m, sclerosing, Inflammatory, snt, TAF, constitutitional genetic, EcRB1, T Lymphocytes, l(2)Psc, F23A5_3, Lymphocyte, Biliary Tree, Sclerosing, Cholangitides, RNA, TAF[[II]]250, D-Bmi, Bowel Diseases, whole blood, 35 kDa dystrophin-associated glycoprotein, EcdR, DNAn+1, disorders, dPSC, l(3)84Ab, ecr, RNS, Primary, medical condition, BG:DS00004.13, dmEcR, Tree, Cistrons, Client, Cell, CG1765, impact-a, SGCG, LGMD2C, dTAF230, anon-WO0229075.1, MODIFIER OF SNC1, p230, yeast nucleic acid, chemical analysis, deoxyribonucleic photolyase activity, TAF[[II]]250/230, condition, imprinted and ancient gene protein homolog, IMPACT, TFIID, Su(z)2-C, Psc1, ds-DNA, T lymphocyte, Relative Risk, Sclerosing Cholangiitis, Taf[[II]]250, ribonucleic acid, ECR-C, RPE, TAF[[II]]230, Peripheral Blood, DMDA1, library construction, photolyase activity, Non Polyadenylated RNA, Risks, Non-Polyadenylated, Lymphocytes, INFLAMM BOWEL DIS, TAF[II]250, Ribonucleic Acid, Understanding, p. pigmentosa retinae, Reticuloendothelial System, Tract, DmelCG17603, vr14, SCARMD2, Desoxyribonukleinsaeure, EcR-A, EcR-B, deoxyribonucleate pyrimidine dimer lyase (photosensitive), assay, hereditary, Primary Sclerosing Cholangitis, DmEcR, RWDD5, TAF1falseUsing genetics to identify cell types and mechanisms underlying susceptibility to primary sclerosing cholangitisPrimary sclerosing cholangitis (PSC) is a T-cell mediated, chronic inflammatory condition of the biliary tree that is strongly associated with inflammatory bowel disease. Genome-wide association studies have identified 22 non-HLA genetic risk variants associated PSC. Identifying the genes impacted by these variants has proven difficult as the majority lie in non-coding regions of the genome. Knowledge of the genes and biological pathways these non-coding variants are perturbing is vital to understanding the disease biology. One means of assessing the impact of non-coding variants within disease associated loci upon genes is via colocalisation with eQTL. Many eQTL are cell-type specific, requiring the analysis of disease relevant cell types to detect colocalisation. We have collected PSC-relevant T-cell-subtypes from the peripheral blood of PSC patients via fluorescence activated cell sorting in preparation for RNA sequencing and mapping of eQTL. Samples were collected at the Norfolk and Norwich University Hopital, for which local ethical approval has been granted. Lysed cell samples will be transferred to WTSI and DNA/RNA will be extracted from lysed cell samples by T143 before genotyping (DNA) and custom library preparation and sequencing (RNA). This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/2023-12-18 14:04:04EGAS000010026429606EGAD00001011815EGAC00001000205