{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001001206"],"host":["EGA"],"description":["EGA study EGAS00001001206"],"dataset_title":["Title not provided"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["other disease, human disease, operative therapy, HAND, DmelCG18144, dHand, disorders, operations, intraoperative procedures, bHLHa28, Surgery, Dhand, foot, hand, Hands, non-neoplastic, disease, paw, hand-C, peroperative procedures, diseases, fore foot, fore-paw, heredity, Diseases, perioperative procedures, CG18144, dHAND, fore paw, forepaw, disease or disorder, condition, disorder, diseases and disorders, Homo sapiens disease, medical condition., operative procedures, General, preoperative procedures, forefeet, forefoot, invasive procedures, forefoot of quadruped"],"description_synonyms":["concomitant conditions, Activity, multiple endocrine neoplasia syndrome, Surgical Amputations, Laboratory, Incidences, Period Prevalence, fascia cluster, Amputation Procedures, Person-time Rates, Proportion, CTRCT40, Flexion contractures of joints, School-Age, Point Prevalence, diseases, Gm48, Contracture, Point Prevalences, diseases and disorders, Incidence Rate, Relapses, Research Activity, preoperative procedures, Laboratory Research, adult, Priorities, treatment, human disease, primary disorder of connective tissue, Prevalences, associated disease, Recurrences, Joint contractures, Xcat, Boys, genetic, cataract, connective, ELL1, Ell1, disease management, Therapies, sequelae, Homo sapiens disease, Research Priority, connective tissue disorders, CXN, Contractures, Therapy, Relapse, Prevalence, Surgical Amputation, Multiple endocrine neoplasms, DmelCG10120, concomitant disease, connective tissue disease, frequency, Amputation Procedure, familial, SCML1, Research Priorities, Amputation, Procedure, familial endocrine, Girl, Incidence Rates, connective tissue disease or disorder, Recrudescence, School Age, RENBP, Diseases, disease or disorder of connective tissue, multiple endocrine adenomatosis, Person-time Rate, General, Adults, Amputations, Research and Development, Populations, sequels, Joint contracture, cataract-dental syndrome, Adenomatosis, common, surveillance, morbidity, Treatments, AGE, Activities, Phenotypes, disease, Surgical, Multiple, Endocrine neoplasia, multiple, Patient, C19orf17, connective tissue diseases, anon-WO0118547.278, medical condition., inherited genetic, School-Age Population, multiple endocrine neoplasia syndrome(s), Secondary Attack Rates, Mdh-NADP, invasive procedures, other disease, disease of connective tissues, coexistent disease, X-linked, Procedures, men syndromes, Multiple endocrine neoplasia, Period Prevalences, Surgery, Secondary Attack Rate, Flexion contractures, Surgical Amputation Procedure, Rate, coexistent conditions, Surgical Multiple Amputation, Girls, Multiple Amputation, disease or disorder, Attack Rates, cataract X-linked with Hutchinsonian teeth, Flexed joint that cannot be straightened, School-Age Populations, occurrence, Research, Recrudescences, connective tissue disorder, prevalence, Mesiodens cataract syndrome, multiple endocrine neoplasia, connective tissue, Population, tissue disease, Nhs1, non-neoplastic, cataract dental syndrome, Cumulative, men syndrome, Mesiodens-cataract syndrome, Dupuytren's Disease, Clients, Person-time, Person time Rate, Surgical Amputation Procedures, disorder, Incidence Proportions, operative procedures, Development and Research, School Age Population, Surgical Multiple, constitutitional genetic, Connective Tissue Disorders, incidence, Women's Group, RnBP, Attack Rate, Cumulative Incidence, Multiple Endocrine Neoplasia, Women Groups, Incidence, Dupuytren's Contracture, MDH, disorders, GlcNAc 2-epimerase, intraoperative procedures, Secondary Attack, medical condition, ME, Woman, Client, Cumulative Incidences, N-acetyl-D-glucosamine 2-epimerase, Priority, Period, peroperative procedures, Familial endocrine adenomatosis, with Hutchinsonian teeth, Research Activities, condition, Gm389, MEN, Men, Me, outbreaks, Multiple Amputations, operative therapy, Women's Groups, disease of connective tissue, disorder of connective tissue, operations, mem, men, NHS, associated conditions, School Age Populations, endemics, Secondary, Incidence Proportion, PPP1R68, Therapeutic, Attack, Point, Connective Tissue Disorder, perioperative procedures, renin-binding protein, Multiple endocrine adenomatosis, epidemics, Treatment, hereditary, Surgical Multiple Amputations, Severe, CG10120"],"additional_accession":[]},"is_claimable":false,"name":"Illumina HumanCoreExome genotyping data from the British Society for Surgery of the Hand Genetics of Dupuytren’s Disease consortium (BSSH-GODD consortium) collection","description":"Dupuytren's Disease (DD - OMIM126900) is the most common heritable disorder of connective tissue. It is a fibroproliferative disorder of the palmer fascia, causing flexion contractures of affected digits. DD affects men more commonly than women. DD is an archetypal complex disease, with multiple genetic and environmental factors affecting the final expression of the disease phenotype. The incidence increases with age, and the prevalence of DD is therefore increasing as the UK population ages. Half of all patients present before age 60. DD causes significant functional impairment, and severe contractures can lead to permanent disability. The mainstay of current treatment is surgery, but recurrence and complications are both high. For severe contractures, the only suitable treatment option is amputation. The direct costs to the NHS are high, and underestimate the true economic costs to society. We collected salivary samples from adults in the UK who have had surgery for DD. We have genotyped these samples using the Illumina HumanCoreExome Beadchips.  https://research.ndorms.ox.ac.uk/public/dupuytrens/what-is-dupuytrens-disease/","dates":{"updated":"2017-07-26 15:39:26"},"accession":"EGAS00001001206","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00010000807","EGAC00001000205"]}}