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Articles Tagged With: genome-wide

  • Polygenic Associations of Chronic Axonal Polyneuropathy

    In most cases of chronic axonal polyneuropathy, no specific cause is found. Using a polygenic risk score for potential risk factors, based on whole genome sequencing, these investigators identified multiple significant risk factors, including diabetes, body mass index, alcohol intake, and vitamin B12 level.

  • Proteomics: A New Method to Understand the Influence of Genetic Variation on Disease Pathogenesis

    The combination of genome-wide association studies with the analysis of messenger ribonucleic acid and unique proteins in the brain, cerebrospinal fluid, and plasma can shed new light on our understanding of the genetic risks for the development of various neurological diseases.

  • Sporadic Creutzfeldt-Jakob Disease: A Genome-Wide Association Study

    Sporadic Creutzfeldt-Jacob disease (sCJD), the most common form of human prion disease, is characterized as a rapidly fatal neurodegenerative process caused by propagation of a transmissible misfolded prion protein gene (PRNP). However, selective PRNP mutations only account for a small subset of sCJD cases, leading to interest in discovering additional genetic risk factors. Through a two-stage study design using genome-wide association studies, the authors have identified two novel risk loci, STX6 and GAL3ST1, which encode for proteins involved in cellular trafficking of prions and sphingolipid metabolism, respectively. These findings provide insights into sCJD pathogenesis and are an avenue for further research.