rs10233425 - FERD3L - POLR1F

Magnitude 4.5 · 1 study on file

Reported associations

• C9orf72 and UNC13A are shared risk loci for ALS and FTD: a genome-wide meta-analysis - Unknown journal (n.d.) · Unknown authors · PubMed 24931836

  ABSTRACT: Objective Substantial clinical, pathological and genetic overlap exists between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 inclusions have been found in both ALS and FTD cases (FTD-TDP). Recently, a repeat expansion in C9orf72 was identified as the causal variant in a proportion of ALS and FTD cases. We sought to identify additional evidence for a common genetic basis for the spectrum of ALS-FTD. Methods We used published GWAS data of 4,377 ALS patients and 13,017 controls and 435 pathology-proven FTD-TDP cases and 1,414 controls for genotype imputation. Data were analyzed in a joint meta-analysis, by replicating topmost associated hits of one disease in the other, and by using a conservative rank products analysis, allocating equal weight to AL

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