Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts

Affiliates

Siting Li, PhD [1], Jiang Gui, PhD [1], Michael N. Passarelli, PhD [1], Angeline S. Andrew, PhD [2], Kathleen M. Sullivan, MBA [2], Kevin A. Cornell, MS [2], Bryan J. Traynor, MD, PhD [3], Ali Stark, BS [3], Ruth Chia, PhD [3], Rebecca M. Kuenzler, MD [4], Erik P. Pioro, MD, PhD [5], Walter G. Bradley, DM, FRCP [6], Elijah W. Stommel, MD, PhD [7]

1. Departments of Biomedical Data Science and Epidemiology, Dartmouth College, Hanover, NH
2. Dartmouth Health, Lebanon, NH
3. Neuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health, Bethesda, MD
4. Cleveland Clinic, OH
5. Department of Medicine, University of British Columbia, Vancouver, BC, Canada
6. University of Miami Miller School of Medicine, Miami, FL
7. Dartmouth Health, Lebanon, NH; Department of Neurology, Geisel School of Medicine at Dartmouth, Hanover, NH

Journal

Neurology® Genetics

Summary

The paper from Dartmouth seeks to gain more insight in the genetic architecture of ALS. It combines both genome wide association studies (GWAS) and transcriptome-wide association studies (TWAS) to detect genetic risk factors within sporadic ALS cases and controls in New England and Ohio. The researchers validated the association of the TARDBP gene with ALS development and identified a new potential novel risk gene in ZNF235. Further genetic research is important to uncover how the newly identified gene influences ALS development

Link to paper

Read the full paper here!