Reworking GWAS Data to Understand the Role of Nongenetic Factors in MS Etiopathogenesis.

ABSTRACT: Genome-wide association studies have identified more than 200 multiple sclerosis (MS)-associated loci across the human genome over the last decade, suggesting complexity in the disease etiology. This complexity poses at least two challenges: the definition of an etiological model including the impact of nongenetic factors, and the clinical translation of genomic data that may be drivers for new druggable targets. We reviewed studies dealing with single genes of interest, to understand how MS-associated single nucleotide polymorphism (SNP) variants affect the expression and the function of those genes. We then surveyed studies on the bioinformatic reworking of genome-wide association studies (GWAS) data, with aggregate analyses of many GWAS loci, each contributing with a small effect to the

SUBMITTER: Mechelli R 

PROVIDER: S-EPMC7017269 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature