{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Martinez-Lopez J"],"funding":["Instituto de Salud Carlos III","Juan de la Cierva Incorporación","Europe’, Redes de Investigación Cooperativa Orientadas a Resultados en Salud","Europe', Redes de Investigación Cooperativa Orientadas a Resultados en Salud","Red de Investigación en Inflamación y Enfermedades Reumáticas"],"pagination":["SI138-SI142"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9910569"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["62(SI)"],"pubmed_abstract":["<h4>Objectives</h4>rs76428106-C, a low frequency polymorphism that affects the splicing of the FLT3 gene, has recently been associated with several seropositive autoimmune diseases. Here, we aimed to evaluate the potential implication of rs76428106-C in the susceptibility to systemic sclerosis (SSc).<h4>Methods</h4>We analysed a total of 26 598 European ancestry individuals, 9063 SSc and 17 535 healthy controls, to test the association between FLT3 rs76428106-C and SSc and its different subphenotypes. Genotype data of rs76428106 were obtained by imputation of already available genome-wide association study data and analysed by logistic regression analysis.<h4>Results</h4>In accordance with that observed in other autoimmune disorders, the FLT3 rs76428106-C allele was significantly increased"],"journal":["Rheumatology (Oxford, England)"],"pubmed_title":["FLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis."],"pmcid":["PMC9910569"],"funding_grant_id":["RD21/0002/0039","RTI2018101332-B-100","MCIN/AEI/10.13039/501100011033","RD16/0012/0013","CP21/00132","IJC2019-040746-I"],"pubmed_authors":["Martin J","Acosta-Herrera M","Marquez A","Kerick M","Ortiz-Fernandez L","Martinez-Lopez J"],"additional_accession":[]},"is_claimable":false,"name":"FLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis.","description":"<h4>Objectives</h4>rs76428106-C, a low frequency polymorphism that affects the splicing of the FLT3 gene, has recently been associated with several seropositive autoimmune diseases. Here, we aimed to evaluate the potential implication of rs76428106-C in the susceptibility to systemic sclerosis (SSc).<h4>Methods</h4>We analysed a total of 26 598 European ancestry individuals, 9063 SSc and 17 535 healthy controls, to test the association between FLT3 rs76428106-C and SSc and its different subphenotypes. Genotype data of rs76428106 were obtained by imputation of already available genome-wide association study data and analysed by logistic regression analysis.<h4>Results</h4>In accordance with that observed in other autoimmune disorders, the FLT3 rs76428106-C allele was significantly increased","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-22T19:52:19.144Z","creation":"2025-02-19T04:45:37.299Z"},"accession":"S-EPMC9910569","cross_references":{"pubmed":["35876828"],"doi":["10.1093/rheumatology/keac406"]}}