biostudies-literatureMartinez-Lopez JInstituto de Salud Carlos IIIJuan de la Cierva IncorporaciónEurope’, Redes de Investigación Cooperativa Orientadas a Resultados en SaludEurope', Redes de Investigación Cooperativa Orientadas a Resultados en SaludRed de Investigación en Inflamación y Enfermedades ReumáticasSI138-SI142https://www.ebi.ac.uk/biostudies/studies/S-EPMC9910569biostudies-literatureUnknown62(SI)<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 increasedRheumatology (Oxford, England)FLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis.PMC9910569RD21/0002/0039RTI2018101332-B-100MCIN/AEI/10.13039/501100011033RD16/0012/0013CP21/00132IJC2019-040746-IMartin JAcosta-Herrera MMarquez AKerick MOrtiz-Fernandez LMartinez-Lopez JfalseFLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis.<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 increased2023-01-01T00:00:00Z2023 Feb2025-04-22T19:52:19.144Z2025-02-19T04:45:37.299ZS-EPMC99105693587682810.1093/rheumatology/keac406