Literature DB >> 24308945

Analysis of CYP27B1 in multiple sclerosis.

Jay P Ross1, Cecily Q Bernales1, Joshua D Lee1, A Dessa Sadovnick2, Anthony L Traboulsee3, Carles Vilariño-Güell4.   

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.
Copyright © 2013 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  CYP27B1; Linkage; Multiple sclerosis; Mutation

Mesh：

Substances：

Year:  2013        PMID： 24308945      PMCID： PMC5092161          DOI： 10.1016/j.jneuroim.2013.11.006

Source DB:  PubMed          Journal:  J Neuroimmunol        ISSN： 0165-5728            Impact factor:   3.478


  16 in total

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Review 9.  Diagnostic criteria for multiple sclerosis: 2005 revisions to the "McDonald Criteria".

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Authors:  W I McDonald; A Compston; G Edan; D Goodkin; H P Hartung; F D Lublin; H F McFarland; D W Paty; C H Polman; S C Reingold; M Sandberg-Wollheim; W Sibley; A Thompson; S van den Noort; B Y Weinshenker; J S Wolinsky
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1.  Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.

Authors:  Anthony L Traboulsee; A Dessa Sadovnick; Mary Encarnacion; Cecily Q Bernales; Irene M Yee; Maria G Criscuoli; Carles Vilariño-Güell
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5.  Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.

Authors:  Vanesa Pytel; Jordi A Matías-Guiu; Laura Torre-Fuentes; Paloma Montero-Escribano; Paolo Maietta; Javier Botet; Sara Álvarez; Ulises Gómez-Pinedo; Jorge Matías-Guiu
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6.  Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family.

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Journal:  Mult Scler       Date:  2018-06-06       Impact factor: 6.312

7.  Meta-Analysis of Differential Connectivity in Gene Co-Expression Networks in Multiple Sclerosis.

Authors:  Teresa Maria Creanza; Maria Liguori; Sabino Liuni; Nicoletta Nuzziello; Nicola Ancona
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