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MHC variation at high resolution in multiple sclerosis

ABSTRACT: MHC variation at high resolution in multiple sclerosis

PROVIDER: PRJNA949790 | ENA |

REPOSITORIES: ENA

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Project description:Multiple sclerosis (MS) is a neuroinflammatory disease of the central nervous system (CNS) with a well documented genetic component. Significant advances in the identification of the genetic component of MS have yet to be realized. The recent success that genetical genomics has shown in the identification of new QTL in plants and mice hold significant promise that this method can now be systematically applied in humans. Encouraging results indicate that even normal variation in gene expression could be genetically encoded. Characteristic patterns of gene expression have been already identified in PBMC from MS patients, and a high-resolution map of the human genome is readily available. We are combining these two powerful sources of information towards the identification of the long-time elusive genetic component of MS. The study proposed herein of ten individuals is a pilot study to ensure that gene expression variation is detectable in selected samples from our lymphoblastoid cell line collection to warrart a larger genetical genomics study. Pilot: Verify that there is sufficient variation in lymphoblastoid cell lines to warrant a full study. The full study will have the following specific aim:; To explore and identify genomic regions responsible for the gene expression signature characteristic of multiple sclerosis patients. Gene expression patterns across lymphoblastoid cell lines from MS patients are sufficiently variable. Following validation of the above hypothesis, the following hypothesis will be addressed in a full study:; Some of the genetic determinants of multiple sclerosis can be identified through the combination of studying gene expression and genomic mutations associated with this gene expression. Ten human lymphoblastoid cell line samples from our repository have been selected for this pilot study. Lymphoblastoid cell lines have been established by infection with the Epstein-Barr virus, and RNA has been isolated with the Rneasy kit (Qiagen, CA). RNA was quantitated using the RibogreenTM reagent (Molecular Probes, Eugene, OR) and its integrity was evaluated by agarose gel electrophoresis. BRB Arraytools, Bioconductor in R, and JMP Genomics (SAS Institute, Cary, NC) will be used to evaluate the expression variance of the samples by comparing them to already existing human microarray data.

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MHC variation at high resolution in multiple sclerosis

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