A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

We observed a nominally significant association between the MEF2D rs200395694-A allele and presence of anti-Sm antibodies ( p = 0.0058) and anti-RNP antibodies ( p = 0.017) with Fisher’s exact test.

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No allelic difference was detected for the α1 isoform transcribed from the minigenes in THP-1, HEK293 and Jurkat, and only a marginally significant increase was detected in the A allele-containing constructs transfected in C2C12 cells (Fig. 4b–e and Supplementary Fig. 3 ).

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