Literature DB >> 26857497

Analysis of CH25H in multiple sclerosis and neuromyelitis optica.

Amanda L Forwell1, Cecily Q Bernales1, Jay P Ross1, Irene M Yee1, Mary Encarnacion1, Joshua D Lee1, A Dessa Sadovnick2, Anthony L Traboulsee3, Carles Vilariño-Güell4.   

Abstract

Oxysterols produced by CH25H during cholesterol metabolism have been shown to play an important role in the immune response. In this study we report the genetic characterization of CH25H in patients diagnosed with multiples sclerosis (MS) or neuromyelitis optica (NMO), for the identification of genetic variants affecting disease susceptibility and course. Exome analysis in 212 MS and 14 NMO patients identified a rare CH25H p.Q17H mutation in two NMO patients of Asian ancestry. In addition, association analysis of common CH25H variants identified a nominally significant association with MS patients presenting a clinical course consistent with primary progressive disease.
Copyright © 2016 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Association; CH25H; Multiple sclerosis; Mutation; Neuromyelitis optica

Mesh：

Year:  2015        PMID： 26857497      PMCID： PMC5092160          DOI： 10.1016/j.jneuroim.2015.12.014

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


  15 in total

1.  Haploview: analysis and visualization of LD and haplotype maps.

Authors:  J C Barrett; B Fry; J Maller; M J Daly
Journal:  Bioinformatics       Date:  2004-08-05       Impact factor: 6.937

2.  Canadian collaborative project on genetic susceptibility to MS, phase 2: rationale and method. Canadian Collaborative Study Group.

Authors:  A D Sadovnick; N J Risch; G C Ebers
Journal:  Can J Neurol Sci       Date:  1998-08       Impact factor: 2.104

3.  STX6 rs1411478 is not associated with increased risk of Parkinson's disease.

Authors:  Joanne Trinh; Carles Vilariño-Güell; Alan Donald; Brinda Shah; Irene Yu; Chelsea Szu-Tu; Jan O Aasly; Ruey-Meei Wu; Faycal Hentati; Ali H Rajput; Alex Rajput; Matthew J Farrer
Journal:  Parkinsonism Relat Disord       Date:  2013-02-14       Impact factor: 4.891

4.  Oxysterols regulate encephalitogenic CD4(+) T cell trafficking during central nervous system autoimmunity.

Authors:  F Chalmin; V Rochemont; C Lippens; A Clottu; A W Sailer; D Merkler; S Hugues; C Pot
Journal:  J Autoimmun       Date:  2014-11-10       Impact factor: 7.094

5.  The HMG-CoA reductase inhibitor, atorvastatin, promotes a Th2 bias and reverses paralysis in central nervous system autoimmune disease.

Authors:  Sawsan Youssef; Olaf Stüve; Juan C Patarroyo; Pedro J Ruiz; Jennifer L Radosevich; Eun Mi Hur; Manuel Bravo; Dennis J Mitchell; Raymond A Sobel; Lawrence Steinman; Scott S Zamvil
Journal:  Nature       Date:  2002-11-07       Impact factor: 49.962

6.  Revised diagnostic criteria for neuromyelitis optica.

Authors:  D M Wingerchuk; V A Lennon; S J Pittock; C F Lucchinetti; B G Weinshenker
Journal:  Neurology       Date:  2006-05-23       Impact factor: 9.910

7.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

Review 8.  Diagnostic criteria for multiple sclerosis: 2005 revisions to the "McDonald Criteria".

Authors:  Chris H Polman; Stephen C Reingold; Gilles Edan; Massimo Filippi; Hans-Peter Hartung; Ludwig Kappos; Fred D Lublin; Luanne M Metz; Henry F McFarland; Paul W O'Connor; Magnhild Sandberg-Wollheim; Alan J Thompson; Brian G Weinshenker; Jerry S Wolinsky
Journal:  Ann Neurol       Date:  2005-12       Impact factor: 10.422

9.  Identifying a high fraction of the human genome to be under selective constraint using GERP++.

Authors:  Eugene V Davydov; David L Goode; Marina Sirota; Gregory M Cooper; Arend Sidow; Serafim Batzoglou
Journal:  PLoS Comput Biol       Date:  2010-12-02       Impact factor: 4.475

10.  Inflammation. 25-Hydroxycholesterol suppresses interleukin-1-driven inflammation downstream of type I interferon.

Authors:  Andrea Reboldi; Eric V Dang; Jeffrey G McDonald; Guosheng Liang; David W Russell; Jason G Cyster
Journal:  Science       Date:  2014-08-08       Impact factor: 47.728
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  8 in total

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
Journal:  Hum Genet       Date:  2017-03-23       Impact factor: 4.132

2.  Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.

Authors:  A Dessa Sadovnick; Ben J Gu; Anthony L Traboulsee; Cecily Q Bernales; Mary Encarnacion; Irene M Yee; Maria G Criscuoli; Xin Huang; Amber Ou; Carol J Milligan; Steven Petrou; James S Wiley; Carles Vilariño-Güell
Journal:  Hum Mutat       Date:  2017-04-13       Impact factor: 4.878

Review 3.  Effects of Oxysterols on Immune Cells and Related Diseases.

Authors:  Fábio Alessandro de Freitas; Débora Levy; Cadiele Oliana Reichert; Edecio Cunha-Neto; Jorge Kalil; Sérgio Paulo Bydlowski
Journal:  Cells       Date:  2022-04-07       Impact factor: 7.666

4.  Regulating Innate and Adaptive Immunity for Controlling SIV Infection by 25-Hydroxycholesterol.

Authors:  Tongjin Wu; Feng Ma; Xiuchang Ma; Weizhe Jia; Enxiang Pan; Genhong Cheng; Ling Chen; Caijun Sun
Journal:  Front Immunol       Date:  2018-11-21       Impact factor: 7.561

5.  Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.

Authors:  Carles Vilariño-Güell; Alexander Zimprich; Filippo Martinelli-Boneschi; Bruno Herculano; Zhe Wang; Fuencisla Matesanz; Elena Urcelay; Koen Vandenbroeck; Laura Leyva; Denis Gris; Charbel Massaad; Jacqueline A Quandt; Anthony L Traboulsee; Mary Encarnacion; Cecily Q Bernales; Jordan Follett; Irene M Yee; Maria G Criscuoli; Angela Deutschländer; Eva M Reinthaler; Tobias Zrzavy; Elisabetta Mascia; Andrea Zauli; Federica Esposito; Antonio Alcina; Guillermo Izquierdo; Laura Espino-Paisán; Jorge Mena; Alfredo Antigüedad; Patricia Urbaneja-Romero; Jesús Ortega-Pinazo; Weihong Song; A Dessa Sadovnick
Journal:  PLoS Genet       Date:  2019-06-06       Impact factor: 5.917

Review 6.  A Comprehensive Review on the Role of Genetic Factors in Neuromyelitis Optica Spectrum Disorder.

Authors:  Soudeh Ghafouri-Fard; Tahereh Azimi; Mohammad Taheri
Journal:  Front Immunol       Date:  2021-10-05       Impact factor: 7.561

Review 7.  Oxysterols in Autoimmunity.

Authors:  Donovan Duc; Solenne Vigne; Caroline Pot
Journal:  Int J Mol Sci       Date:  2019-09-12       Impact factor: 5.923

8.  RIPK1 activation mediates neuroinflammation and disease progression in multiple sclerosis.

Authors:  Matija Zelic; Fabrizio Pontarelli; Lisa Woodworth; Cheng Zhu; Amy Mahan; Yi Ren; Michael LaMorte; Ross Gruber; Aislinn Keane; Pequita Loring; Lilu Guo; Tai-He Xia; Boyao Zhang; Pontus Orning; Egil Lien; Alexei Degterev; Timothy Hammond; Dimitry Ofengeim
Journal:  Cell Rep       Date:  2021-05-11       Impact factor: 9.423
  8 in total

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