Role of Glucocorticoid- receptor gene polymorphisms in multiple sclerosis pathogenesis

In multiple sclerosis (MS) patients, glucocorticoids (GCs) might not be adequately able to inhibit the immunesystem, possibly be owing to decreased GC sensitivity. This may be, at least fractionally, genetically determined.Various GR gene polymorphisms are found in association with altered sensitivity to GCs. For rs6195, rs41423247and rs6189/rs6190 polymorphisms, a relative GC resistance has been elucidated.We extracted DNA from 400 peripheral blood specimens. To evaluate polymorphisms in multiple sclerosis weused PCR/RFLP (restriction fragment length polymorphism method) method afterward genotype and allelefrequencies were detected. rs41423247 and rs6189/rs6190 mutated alleles frequency in MS group weresignificantly higher than normal allele in control group. This result suggests that GR gene rs41423247 andrs6189/rs6190 polymorphisms are an additional risk factor for multiple sclerosis.This study confirms the hypothesis that GR rs41423247 and rs6189/rs6190 polymorphisms are associated withincreasing GC sensitivity. For exploration of functional results of these polymorphisms and mechanisms to whichthe GR polymorphisms could lead to MS there must be essential biochemical studies to be established.

کلیدواژه ها:

Multiple sclerosis ، Glucocorticoids ، rs41423247 ، rs6189/rs6190