C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity.

ABSTRACT: C9orf72 hexanucleotide repeat expansion is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 locus may harbor residual risk outside the hexanucleotide repeat expansion, but the evidence is conflicting. Here, we first compared 683 unrelated amyotrophic lateral sclerosis cases and 3,196 controls with Finnish ancestry to find best single nucleotide polymorphisms that tag the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles. Rs2814707 was the best tagging single nucleotide polymorphisms for intermediate-length alleles with ≥7 repeats (p = 5 × 10^-307) and rs139185008 for the hexanucleotide repeat expansion (p = 7 × 10^-114) as well as alleles with ≥20 repeats. rs1391

SUBMITTER: Kaivola K 

PROVIDER: S-EPMC10014923 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature