Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Restuadi RestuadiFrederik J SteynEdor KabashiShyuan T NgoFei-Fei ChengMarta F NabaisMike J ThompsonTing QiYang WuAnjali K HendersLeanne WallaceChris R ByeBradley J TurnerLaura ZiserSusan MathersPamela A McCombeMerrilee NeedhamDavid SchultzMatthew C KiernanWouter van RheenenLeonard H van den BergJan H VeldinkRoel OphoffAlexander GusevNoah ZaitlenAllan F McRaeRobert D HendersonNaomi R WrayJean GiacomottoFleur C GartonPublished in: Genome medicine (2022)
These results support GPX3 as a lead ALS risk gene in this locus, with more data needed to confirm/reject a role for TNIP1. This has implications for understanding disease mechanisms (GPX3 acts in the same pathway as SOD1, a well-established ALS-associated gene) and identifying new therapeutic approaches. Few previous examples of in-depth investigations of risk loci in ALS exist and a similar approach could be applied to investigate future expected GWAS findings.