Radiogenomics of <i>C9orf72</i> Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment.

First, although we have replicated our primary RNA-seq findings—globally upregulated peripheral TE expression and upregulation of IFN-I signaling genes—in symptomatic HRE carriers in an independent cohort, the replication cohort was smaller, and therefore some findings replicated with only marginal significance (e.g., increased expression of L1HS in C9-ALS vs control PBMCs).

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In addition, some of our neuroimaging findings were marginally significant (e.g., the association of peripheral L1HS levels with pulvinar nuclei volumes).

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Intriguingly, we found that after including total thalamic volume as a covariate in our regression analyses, the right mediodorsal lateral parvocellular (R MDl) nucleus showed highly significant atrophy ( Fig. 2 ), consistent with a disproportionate effect on this nucleus.

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Presymptomatic carriers also had reduced C9orf72 expression, but this difference did not reach statistical significance, likely because of the small sample size of this group (logFC = −0.45, p raw = 0.005, p FDR = 0.18).

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