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. Author manuscript; available in PMC: 2026 Jul 8.
Published in final edited form as: Lancet Neurol. 2026 Jun;25(6):581–590. doi: 10.1016/S1474-4422(26)00123-7

Figure 2: Statistical and functional analysis of sentinel variants.

Figure 2:

(A) TDP-43 plasma protein level measurement for rs537168961 (CCNG1) CT and CC among Knight-ADRC participants. (B) Cumulative incidence among rs537168961 (CCNG1) CT and CC. All participants are ADAD mutation carriers. (C) Segregation analysis. In this pedigree, diamonds represent individuals with sex masked for privacy. Deceased individuals are marked with a crossed bar. The age at onset is shown for each individual. A “+” sign indicates carriers of the ADAD mutation, and a red “+” sign indicates CT. The mean age at onset of participants carring both the ADAD mutation and the risk allele is 39 years, and that of participants carrying the ADAD mutation but not the risk allele is 47 years. (D) CSF Alzheimer’s disease biomarker measurements for CSF total Tau, pTau181, and amyloid β plaque burden for rs141931440 (RHOJ) CT and CC among participants carrying an ADAD mutation. Dots represent participants, with orange for those carrying the rs141931440 risk allele (CT) and blue for those who are homozygous for the rs141931440 reference allele (CC). (E) Neuroimaging brain age gap analysis for rs537168961 (CCNG1) CT and CC among participants carrying the ADAD mutation. Dots represent participants, with orange for those carrying the rs537168961 risk allele (T) and blue for those who are homozygous for the rs537168961 reference. p represents the linear regression model significance in (A), (D), and (E), and the log-rank test statistical significance in (B). ADAD=autosomal dominant Alzheimer’s disease. CC=non-carriers of the indicated risk allele. CT=carriers of the indicated risk allele.