Fig. 2: Pathological C9ORF72 repeat lengths in C9ORF72 haplotypes, including ancestral non-risk haplotypes, ancestral risk haplotypes, and founder non-risk haplotypes and founder risk haplotypes. | Translational Psychiatry

Fig. 2: Pathological C9ORF72 repeat lengths in C9ORF72 haplotypes, including ancestral non-risk haplotypes, ancestral risk haplotypes, and founder non-risk haplotypes and founder risk haplotypes.

From: Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions

Fig. 2

Haplotypes could be mapped to C9ORF72 repeat lengths for N = 1743 ancestral (non-founder) non-risk haplotypes, N = 14 ancestral risk haplotypes, N = 535 founder non-risk haplotypes, and N = 60 founder risk haplotypes. The founder haplotype is defined by the presence of rs3849942-C (tags ancestral allele) or rs3849942-T (tags founder allele). Risk status is defined by the presence of at least one risk allele, including rs117204439-C or rs147211831-A. *The subset off haplotypes that could not be assigned to C9ORF72 lengths had a short allele with a low probability (<0.8) for the ancestral allele (rs3849942-C) and C9ORF72 lengths differed by more than 3 repeats. Abbreviation(s) C9ORF72: chromosome 9 open reading frame 72.

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