Key result
Two intronic IL7RA gene variations linked to multiple sclerosis susceptibility in an Iranian population.
Why the study?
The study aimed to investigate variations in IL7RA gene exon 7 and flanking intronic regions in MS patients compared with healthy controls to identify genetic susceptibility factors in an Iranian population.
Are variations in exon 7 and flanking intronic regions of the IL7RA gene associated with Multiple Sclerosis in Iranian patients?
Case-Control (n=187)
Are variations in exon 7 and flanking intronic regions of the IL7RA gene associated with Multiple Sclerosis in Iranian patients?
Two variations in the flanking intronic regions of the IL7RA gene exon 7 are associated with relapsing-remitting multiple sclerosis in Iranian patients.
Supports IL7RA variant research in MS; leaves open generalizability and causality pending replication.
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder with neurodegenerative effects. It is usually seen among young adults and women. The aim of the present investigation was the study of IL7RA gene exon 7 and flanking intronic regions in MS patients compared with healthy control. In this case-control study, 100 MS patients in RelapsingRemitting phase and 87 healthy individuals were studied. DNA was extracted from whole blood cells, using Salting-out method. Samples were screened for variations in exon 7 and flanking intronic regions by direct sequencing. No mutation was found in the exon7, however 39 single nucleotide polymorphisms (SNPs) were investigated. In addition, we found 2 variations that were significantly associated with MS in our population. Our study demonstrated no significant variation in Iranian MS population in exon 7 but we found 2 variations in flanking regions which were associated with MS. Further studies are required to define the effects of these SNPs on the IL7R protein in multiple sclerosis.
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Sattari et al. (2016) conducted a case-control in Multiple sclerosis (n=187). IL7RA gene exon 7 and flanking intronic region variations vs. Healthy controls was evaluated on Association of IL7RA gene variations with multiple sclerosis. Two variations in the flanking intronic regions of the IL7RA gene exon 7 were significantly associated with susceptibility to multiple sclerosis in an Iranian population.
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