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Brigham and Women's Hospital Multiple Sclerosis Genetic Collection

ABSTRACT:

The main objective of this GWA study is to identify Multiple Sclerosis (MS) susceptibility loci. Whole-genome association analysis was performed on 924 individuals genotyped on the Affymetrix 6.0 Genechip. The cohort consisted of 860 clinically diagnosed MS patients and 64 control subjects.

OTHER RELATED OMICS DATASETS IN: PRJNA117153

PROVIDER: phs000275.v1.p1 | EGA |

REPOSITORIES: EGA

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Publications

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

De Jager Philip L PL Jia Xiaoming X Wang Joanne J de Bakker Paul I W PI Ottoboni Linda L Aggarwal Neelum T NT Piccio Laura L Raychaudhuri Soumya S Tran Dong D Aubin Cristin C Briskin Rebeccah R Romano Susan S Baranzini Sergio E SE McCauley Jacob L JL Pericak-Vance Margaret A MA Haines Jonathan L JL Gibson Rachel A RA Naeglin Yvonne Y Uitdehaag Bernard B Matthews Paul M PM Kappos Ludwig L Polman Chris C McArdle Wendy L WL Strachan David P DP Evans Denis D Cross Anne H AH Daly Mark J MJ Compston Alastair A Sawcer Stephen J SJ Weiner Howard L HL Hauser Stephen L SL Hafler David A DA Oksenberg Jorge R JR

Nature genetics 20090614 7

We report the results of a meta-analysis of genome-wide association scans for multiple sclerosis (MS) susceptibility that includes 2,624 subjects with MS and 7,220 control subjects. Replication in an independent set of 2,215 subjects with MS and 2,116 control subjects validates new MS susceptibility loci at TNFRSF1A (combined P = 1.59 x 10(-11)), IRF8 (P = 3.73 x 10(-9)) and CD6 (P = 3.79 x 10(-9)). TNFRSF1A harbors two independent susceptibility alleles: rs1800693 is a common variant with modes ...[more]

PMID: 19525953

Similar Datasets

BWH MS Genetic Collection

Project description:<p>The main objective of this GWA study is to identify Multiple Sclerosis (MS) susceptibility loci. Whole-genome association analysis was performed on 924 individuals genotyped on the Affymetrix 6.0 Genechip. The cohort consisted of 860 clinically diagnosed MS patients and 64 control subjects.</p>

| phs000275 | dbGaP

Expression profiles of PBMC from multiple sclerosis patients

Project description:Affymetrix GeneChip Human Gene 1.0 ST Array was applied to compare the expression profiles in peripheral blood mononuclear cells(PBMC) between healthy controls and multiple sclerosis patients(MS pt). It suggested that certain genes involved in apoptosis pathway have been changed regulated in PBMC from MS pt. Applying Affymetrix GeneChip Human Gene 1.0 ST Array and the mixed effects model for gene set analysis, we compared gene expression profiles between 8 multiple sclerosis (MS) patients and 4 healthy controls (HC).

2011-03-01 | E-GEOD-23832 | biostudies-arrayexpress

Expression profiles of PBMC from multiple sclerosis patients

2011-03-01 | GSE23832 | GEO

Concurrent gliomas in patients with multiple sclerosis

Project description:Background: Concurrent malignant brain tumors in patients with multiple sclerosis (MS) constitute a rare but paradigmatic phenomenon for studying neuroimmunological mechanisms from both molecular and clinical perspectives. Methods: A multicenter cohort of 26 patients diagnosed with both primary brain tumors and multiple sclerosis was studied for disease localization, tumor treatment-related MS activity, and molecular characteristics specific for diffuse glioma in MS patients. Results: MS neither predisposes nor protects from the development of gliomas. Patients with glioblastoma WHO grade 4 without isocitratdehydrogenase (IDH) mutations have a longstanding history of MS, whereas patients diagnosed with IDH-mutant astrocytoma WHO grade 2 receive multiple sclerosis diagnosis mostly at the same time or later. Concurrent MS is associated with a lesser extent of tumor resection and a worse prognosis in IDH-mutant glioma patients (PFS 32 vs. 64 months, p=0.0206). When assessing tumor-intrinsic differences no distinct subgroup-defining methylation pattern is identified in gliomas of MS patients compared to other glioma samples. However, differential methylation of immune-related genetic loci including human leukocyte antigen locus on 6p21 and interleukin locus on 5q31 is found in MS patients vs. matched non-MS patients. In line, inflammatory disease activity increases in 42% of multiple sclerosis patients after brain tumor radiotherapy suggesting a susceptibility of multiple sclerosis brain tissue to pro-inflammatory stimuli such as ionizing radiation. Conclusions: Concurrent low-grade gliomas should be considered in multiple sclerosis patients with slowly progressive, expansive T2/FLAIR lesions. Our findings of typically reduced extent of resection in MS patients and increased MS activity after radiation may inform future treatment decisions.

2023-12-27 | GSE243465 | GEO

Gene expression profile in CD4+ and CD8+ T cells from identical twins discordant for Multiple sclerosis

Project description:To gain insight into the etiopathogenesis of Multiple sclerosis (MS) we investigated gene expression changes in CD4+ and CD8+ T lymphocytes from monozygotic twins (MZ) discordant for relapsing remitting MS. We studied 4 monozygotic twin pairs discordant for disease, with the affected co-twin free of disease modifying therapies (F/M = 3/1, mean age 36.25±3.9). Following leukapheresis, CD4+ and CD8+ T cells were separated and studied by Affymetrix GeneChip®

2010-12-31 | GSE16461 | GEO

Physical activity diminish fatigue and systemic interferon response in multiple sclerosis

Project description:Objective: To evaluate gene expression profiles in multiple sclerosis (MS) patients who improved their fatigue status after a program of physical exercise and to compare them with healthy controls (HC). Methods: A prospective longitudinal study was conducted. Gene expression in whole blood was profiled at baseline in 7 healthy controls and also in 7 fatigued-MS patients. Patients underwent a physical exercise program for 6 months, and their fatigue status and gene expression profiles were again analyzed at the end of this program. Results: MS patients showed a significant activation of genes participating in the systemic interferon response in comparison with healthy controls. Fatigue improved at the end of the physical activity program, and, in parallel, systemic activation of interferon related genes disappeared. Conclusions: Fatigue improvement following an exercise program is associated to down modulation of interferon activity at the systemic level in MS patients. Our results provide a biological basis for the observed benefit of physical exercise in MS.

2015-09-27 | E-MTAB-2973 | biostudies-arrayexpress

Transcription signature of Multiple Sclerosis

Project description:This SuperSeries is composed of the following subset Series: GSE17393: Transcription signature of Multiple Sclerosis in peripheral blood mononuclear cells. GSE17409: Pregnancy changes expression in peripheral blood mononuclear cells of healthy donors GSE17410: Pregnancy changes expression in peripheral blood mononuclear cells of Multiple Sclerosis (MS) patients Refer to individual Series

2010-01-10 | E-GEOD-17449 | biostudies-arrayexpress

Peripheral blood gene expression profiling in multiple sclerosis

Project description:We measured global mRNA expression in peripheral blood mononuclear cells (PBMC) from 182 individuals, comprising of 142 multiple sclerosis (MS) patients affected with distinct MS clinical forms and 40 healthy controls.

2017-09-30 | E-MTAB-4890 | biostudies-arrayexpress

Peripheral blood gene expression profiling in multiple sclerosis

Project description:We measured global mRNA expression in peripheral blood mononuclear cells (PBMC) from 76 individuals, comprising of 49 multiple sclerosis (MS) patients affected with distinct MS clinical forms and 27 healthy controls.

2017-09-30 | E-MTAB-5151 | biostudies-arrayexpress

Neuronal Methylome in Multiple Sclerosis

Project description:DNA methylation profiling of NeuN+sorted neuronal nuclei from post-mortem brain tissue of Multiple Sclerosis (MS) patients (n=10) (MS) and non-neurological controls (n=7) (non-MS). Genomic DNA was subjected to conventional BS-treatment as well as oxidative BS (oxBS)-conversion using TrueMethylTM 96 kit of CEGXTM (Cambridge Epigenetix Limited) to allow for subsequent detection of hydroxymethylation (5hmC = BS - oxBS).

2019-06-21 | GSE119532 | GEO

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