ParkinsonCanadaV1, Main, Exploration, bibRecord, 000E51

Analysis of CYP27B1 in multiple sclerosis

Identifieur interne : 000E51 ( Main/Exploration ); précédent : 000E50; suivant : 000E52

Analysis of CYP27B1 in multiple sclerosis

Auteurs : Jay P. Ross [Canada] ; Cecily Q. Bernales [Canada] ; Joshua D. Lee [Canada] ; A Dessa Sadovnick [Canada] ; Anthony L. Traboulsee [Canada] ; Carles Vilari O-Güell [Canada]

Source :

Journal of neuroimmunology [ 0165-5728 ] ; 2013.

RBID : PMC:5092161

Abstract

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 mutation segregates with disease in five family members diagnosed with MS, thus providing additional support for CYP27B1 p.R389H in the pathogenicity of MS.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5092161

DOI: 10.1016/j.jneuroim.2013.11.006
PubMed: 24308945
PubMed Central: 5092161

Affiliations:

Canada

Le document en format XML

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<front><div type="abstract" xml:lang="en"><p id="P1">The analysis of genetic variability in <italic>CYP27B1</italic>
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 and elucidate its role on MS risk in the Canadian population. Sequencing <italic>CYP27B1</italic>
 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 mutation segregates with disease in five family members diagnosed with MS, thus providing additional support for CYP27B1 p.R389H in the pathogenicity of MS.</p>
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La maladie de Parkinson au Canada (serveur d'exploration)

Analysis of CYP27B1 in multiple sclerosis

Analysis of CYP27B1 in multiple sclerosis

Source :

Abstract

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	La maladie de Parkinson au Canada (serveur d'exploration)
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