The aim of the present study was to analyse a possible association of three autoimmune disabilities - Multiple sclerosis (MS), LADA diabetes and Graves' disease (GD) with single nucleotide polymorphism (SNP; rs1990760) in the IF IH1 gene (also known as a melanoma differentiation-associated protein 5 - MDA5) within the Polish population.
To establish if these SNPs were also involved in MS susceptibility, we chose to examine the non-synonymous SNP rs35667974/rs35667974" genes_norm="64135">Ile923Val which displayed the strongest effect in T1D and was also shown to lead to a loss of IFIH1 function in an in vitro study.
The two most significant IFIH1 single nucleotide polymorphisms, rs1990760 and rs2068330, reported as involved in MS susceptibility, were genotyped in 591 French Caucasian MS trio families, and analyzed using the transmission/disequilibrium test.
Our results support previous findings of associations between the IFIH1-locus and MS (IFIH1-rs3747517 and IFIH1-rs1990760 trend test: P=0.002 and P=0.014, respectively).