Literature DB >> 22411505

Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.

Mascha C Schmied1, Sonja Zehetmayer, Markus Reindl, Rainer Ehling, Barbara Bajer-Kornek, Fritz Leutmezer, Karin Zebenholzer, Christoph Hotzy, Peter Lichtner, Thomas Meitinger, H-Erich Wichmann, Thomas Illig, Christian Gieger, Klaus Huber, Michael Khalil, Sigrid Fuchs, Helena Schmidt, Eduard Auff, Wolfgang Kristoferitsch, Franz Fazekas, Thomas Berger, Karl Vass, Alexander Zimprich.   

Abstract

We performed a replication study in 883 Austrian multiple sclerosis (MS) patients and 972 control individuals for 25 previously risk-associated loci (39 SNPs). Two loci, rs1109670 (DDEF2/MBOAT2, p < 0.02) and rs16914086 (TBC1D2, p < 0.05), are replicated here for the first time. Furthermore, we tested all 39 SNPs for association with age at disease onset and measures of disease severity. We observed a trend for association of rs3135388 (HLA-DRB1*1501, p < 0.01), rs7090530 (IL2RA, p < 0.026) and rs1841770 (ZIC1, p < 0.017) with a younger age at MS onset and of rs12044852 (CD58, p < 0.035) with shorter time to reach EDSS6.

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Year:  2012        PMID： 22411505     DOI： 10.1007/s10048-012-0316-y

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  36 in total

Review 1.  Multiple sclerosis genetics.

Authors:  J P McElroy; J R Oksenberg
Journal:  Curr Top Microbiol Immunol       Date:  2008       Impact factor: 4.291

2.  HLA-DRB1 and disease outcome in multiple sclerosis.

Authors:  S J Weatherby; W Thomson; L Pepper; R Donn; J Worthington; C L Mann; M B Davies; A A Fryer; M D Boggild; C A Young; P W Jones; R C Strange; W E Ollier; C P Hawkins
Journal:  J Neurol       Date:  2001-04       Impact factor: 4.849

3.  Familial recurrence rates and genetic models of multiple sclerosis.

Authors:  J William Lindsey
Journal:  Am J Med Genet A       Date:  2005-05-15       Impact factor: 2.802

4.  Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis.

Authors:  Antonio Alcina; Oscar Fernández; Juan Ramón Gonzalez; Antonio Catalá-Rabasa; María Fedetz; Dorothy Ndagire; Laura Leyva; Miguel Guerrero; Carmen Arnal; Concepción Delgado; Miguel Lucas; Guillermo Izquierdo; Fuencisla Matesanz
Journal:  Eur J Hum Genet       Date:  2010-01-20       Impact factor: 4.246

5.  The impact of HLA-A and -DRB1 on age at onset, disease course and severity in Scandinavian multiple sclerosis patients.

Authors:  C Smestad; B Brynedal; G Jonasdottir; A R Lorentzen; T Masterman; E Akesson; A Spurkland; B A Lie; J Palmgren; E G Celius; J Hillert; H F Harbo
Journal:  Eur J Neurol       Date:  2007-08       Impact factor: 6.089

6.  Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis.

Authors:  Frida Lundmark; Kristina Duvefelt; Ellen Iacobaeus; Ingrid Kockum; Erik Wallström; Mohsen Khademi; Annette Oturai; Lars P Ryder; Janna Saarela; Hanne F Harbo; Elisabeth G Celius; Hugh Salter; Tomas Olsson; Jan Hillert
Journal:  Nat Genet       Date:  2007-07-29       Impact factor: 38.330

7.  Multiple sclerosis.

Authors:  Alastair Compston; Alasdair Coles
Journal:  Lancet       Date:  2008-10-25       Impact factor: 79.321

8.  Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians.

Authors:  J P Rubio; J Stankovich; J Field; N Tubridy; M Marriott; C Chapman; M Bahlo; D Perera; L J Johnson; B D Tait; M D Varney; T P Speed; B V Taylor; S J Foote; H Butzkueven; T J Kilpatrick
Journal:  Genes Immun       Date:  2008-07-24       Impact factor: 2.676

9.  IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D).

Authors:  Antonio Alcina; María Fedetz; Dorothy Ndagire; Oscar Fernández; Laura Leyva; Miguel Guerrero; María M Abad-Grau; Carmen Arnal; Concepción Delgado; Miguel Lucas; Guillermo Izquierdo; Fuencisla Matesanz
Journal:  PLoS One       Date:  2009-01-06       Impact factor: 3.240

10.  Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis.

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
Journal:  Ann Neurol       Date:  2001-07       Impact factor: 10.422
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  10 in total

1.  Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.

Authors:  Allison E Ashley-Koch; Melanie E Garrett; Jason Gibson; Yutao Liu; Michelle F Dennis; Nathan A Kimbrel; Jean C Beckham; Michael A Hauser
Journal:  J Affect Disord       Date:  2015-06-12       Impact factor: 4.839

2.  The S100A7 nuclear interactors in autoimmune diseases: a coevolutionary study in mammals.

Authors:  Fabio D'Amico; Evangelia Skarmoutsou; Massimo Libra
Journal:  Immunogenetics       Date:  2022-02-16       Impact factor: 2.846

3.  Identification of MBOAT2 as an Unfavorable Biomarker Correlated with KRAS Activation and Reduced CD8+ T-Cell Infiltration in Pancreatic Cancer.

Authors:  Zhenchong Li; Hongkai Zhuang; Xinming Chen; Yue Zhang; Zuyi Ma; Shujie Wang; Qian Yan; Zixuan Zhou; Shanzhou Huang; Chuanzhao Zhang; Baohua Hou
Journal:  J Oncol       Date:  2022-05-04       Impact factor: 4.501

4.  Predisposition to Behçet's disease and VKH syndrome by genetic variants of miR-182.

Authors:  Hongsong Yu; Yunjia Liu; Lin Bai; Aize Kijlstra; Peizeng Yang
Journal:  J Mol Med (Berl)       Date:  2014-05-08       Impact factor: 4.599

5.  The Impact of Five VDR Polymorphisms on Multiple Sclerosis Risk and Progression: a Case-Control and Genotype-Phenotype Study.

Authors:  Pavel Křenek; Yvonne Benešová; Julie Bienertová-Vašků; Anna Vašků
Journal:  J Mol Neurosci       Date:  2018-03-28       Impact factor: 3.444

6.  Novel Insights Into Gene Signatures and Their Correlation With Immune Infiltration of Peripheral Blood Mononuclear Cells in Behcet's Disease.

Authors:  Haoting Zhan; Haolong Li; Linlin Cheng; Songxin Yan; Wenjie Zheng; Yongzhe Li
Journal:  Front Immunol       Date:  2021-12-15       Impact factor: 7.561

7.  Syringohydromyelia in Dogs: The Genomic Component Underlying a Complex Neurological Disease.

Authors:  Sandra Andrino; Valentina Lorenzo; Susana Dunner; Elisabeth Contreras; Javier Cañón; Natalia Sevane
Journal:  Animals (Basel)       Date:  2022-09-29       Impact factor: 3.231

8.  Variants of MicroRNA Genes: Gender-Specific Associations with Multiple Sclerosis Risk and Severity.

Authors:  Ivan Kiselev; Vitalina Bashinskaya; Olga Kulakova; Natalia Baulina; Ekaterina Popova; Alexey Boyko; Olga Favorova
Journal:  Int J Mol Sci       Date:  2015-08-24       Impact factor: 5.923

Review 9.  This Is the End: Regulation of Rab7 Nucleotide Binding in Endolysosomal Trafficking and Autophagy.

Authors:  Christopher Stroupe
Journal:  Front Cell Dev Biol       Date:  2018-10-02

10.  Adaptive Fisher method detects dense and sparse signals in association analysis of SNV sets.

Authors:  Xiaoyu Cai; Lo-Bin Chang; Jordan Potter; Chi Song
Journal:  BMC Med Genomics       Date:  2020-04-03       Impact factor: 3.063
  10 in total

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