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FLT3 functional low-frequency variant rs76428106-C is associated with susceptibility to systemic sclerosis.

OBJECTIVES
rs76428106-C, a low frequency polymorphism which 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).


METHODS
We analyzed a total of 26 598 European ancestry individuals, 9,063 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 (GWAS) data and analyzed by logistic regression analysis.


RESULTS
In accordance with that observed in other autoimmune disorders, the FLT3 rs76428106-C allele was significantly increased (p-value = 2.03x10-3, OR = 1.34) in SSc patients compared with healthy controls. A similar risk effect was found when the main SSc clinical and serological subgroups were compared with controls. When comparing SSc patients with and without digital ulcers (DU), the rs76428106-C frequency was significantly increased in DU positive SSc patients in comparison with DU negative patients (p-value = 0.036, OR = 2.16).


CONCLUSION
This study is the first to report an association between rs76428176-C and SSc. Our results support the role of FLT3 as a relevant gene in seropositive immune mediated diseases and a potential biomarker for SSc microangiopathy.