Fogh I, Lin K, Tiloca C, et al. Association of a Locus in the CAMTA1 Gene with Survival in Patients with Sporadic Amyotrophic Lateral Sclerosis. JAMA Neurol 2016;73:812-820.
Submitted by Rocio Carolina Garcia Santibanez, MD, News Science Editorial Board
The objective of this study was to identify genes which might influence ALS survival using genome-wide association studies (GWAS). A total of 4256 patients were included, 29.8% had bulbar onset with a mean survival of 27.5 months and 70.2% had spinal onset with a mean survival of 35.9 months. Two loci were associated with decreased survival. At locus 10q23 the presence of the SNP rs139550538 AA or AT genotype was associated with an 8-month reduction in survival. At locus 1p34 the presence of SNP rs2412208 GG or GT, which fell within the CAMTA1 (calmodulin binding transcription activator 1) gene, was associated with a 4-month reduction in survival.
This study identified two gene variants associated with decreased survival in ALS. Identifying genes that affect survival in ALS could aid us in better understanding the biology of the disease and, possibly in identifying possible gene targets for intervention. As with all GWAS studies, caution must be applied when interpreting the results, as the pathogenic roles of genes encoded at these loci in ALS are not known.
About the AANEM News Science Editorial Board
The board helps to highlight significant, timely science news items for AANEM members. It reviews articles in journals and websites, identifies newsworthy items in the field, and writes article summaries.