A Comprehensive Exploration of the Transcriptomic Landscape in Multiple Sclerosis: A Systematic Review.
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SUBMITTER: Chiricosta L
PROVIDER: S-EPMC9862618 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
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A Comprehensive Exploration of the Transcriptomic Landscape in Multiple Sclerosis: A Systematic Review.
Chiricosta Luigi L Blando Santino S D'Angiolini Simone S Gugliandolo Agnese A Mazzon Emanuela E
International journal of molecular sciences 20230111 2
Multiple Sclerosis (MS) is, to date, an incurable disease of the nervous system characterized by demyelination. Several genetic mutations are associated with the disease but they are not able to explain all the diagnosticated cases. Thus, it is suggested that altered gene expression may play a role in human pathologies. In this review, we explored the role of the transcriptomic profile in MS to investigate the main altered biological processes and pathways involved in the disease. Herein, we foc ...[more]
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Project description:Background Although recent genome-wide association studies have identified several genetic variants contributing to the complex aetiology of multiple sclerosis (MS), expression and functional studies are required to further understand its molecular basis. Objectives To identify genes and pathways with differential expression in MS. Design The authors conducted a systematic review of seven microarray studies, in which expression in immune cells was compared between MS patients and controls. These studies include a previously unpublished study, which is described here in detail. Results and conclusion Although in general the overlap between studies was poor, 229 genes were found to be differentially expressed in MS in at least two studies, of which 11 were in three studies and HSPA1A in four studies. After excluding the authors' unpublished experiment which may have been affected by certain confounding factors and inclusion of treated subjects, 135 genes were identified in at least two studies. The differentially expressed genes were significantly associated with several immunological pathways, including interleukin (IL)-4, IL-6, IL-17 and glucocorticoid receptor signalling pathways. 15 of the 229 loci have shown some association with MS in published genome-wide association studies (p<0.0001), including three loci with confirmed MS risk variants.
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