Ontology highlight
ABSTRACT:
SUBMITTER: Ross JP
PROVIDER: S-EPMC5092161 | biostudies-other | 2014 Jan
REPOSITORIES: biostudies-other
Journal of neuroimmunology 20131123 1-2
The analysis of genetic variability in CYP27B1 and its effect on risk of multiple sclerosis (MS) has yielded conflicting results. Here we describe a study to genetically characterize CYP27B1 and elucidate its role on MS risk in the Canadian population. Sequencing CYP27B1 failed to identify mutations known to cause loss of enzymatic activity, however genotyping of p.R389H in cases and controls identified the mutation in one multi-incident family (allele frequency=0.03%) in which the p.R389H mutat ...[more]