Glucocorticoid receptor gene polymorphisms associated with more aggressive disease phenotype in MS

van Winsen LM, Hooper-van Veen T, van Rossum EF, Koper JW, Barkhof F, Polman CH, Uitdehaag BM.

Department of Neurology, VU University Medical Center , De Boelelaan 1117, 1081 HV Amsterdam , The Netherlands .

Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of the central nervous system, in which unknown environmental factors are thought to trigger disease in genetically susceptible persons.

Glucocorticoids (GCs) play an important role in controlling chronic inflammatory diseases, like MS. Three polymorphisms in the glucocorticoid receptor (GR) gene (N363S, ER22/23EK and the Bcl I C/G) have been shown to alter glucocorticoid sensitivity, and therefore may influence disease course. We investigated the influence of these polymorphisms on clinical and MRI parameters.

The ER22/23EK polymorphism was associated with a more aggressive MS phenotype, measured both clinically and on MRI .

PMID : 17395275 [PubMed - as supplied by publisher]

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17395275&itool=pubmed_DocSum