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Table 3 Associations between the polygenic scores and pathological diagnostic categories and variables

From: Assessment of genetic risk for improved clinical-neuropathological correlations

Pathological diagnosis AD PHS PD PRS DLB PRS
RRR (95% CI) p value RRR (95% CI) p value RRR (95% CI) p value
MLR, control as reference
 FTD 1.60 (1.16–2.21) .004 1.01 (.60–1.70) .97 1.24 (.76–2.02) .40
 DLB 1.73 (1.23–2.42) .002 1.39 (.80–2.41) .24 3.22 (1.62–6.40) < .001
 AD + DLB 3.05 (2.47–3.77) < .001 .93 (.67–1.28) .65 4.47 (2.76–7.22) < .001
 AD 3.06 (2.52–3.71) < .001 .92 (.69–1.22) .57 3.08 (2.33–4.09) < .001
 AD + MTLS 3.14 (2.45–4.02) < .001 .95 (.65–1.39) .78 2.94 (2.07–4.18) < .001
  OR (95% CI) p value OR (95% CI) p value OR (95% CI) p value
Braak stage
 OLR, POM 0.93 (0.82–1.05) .24
 OLR, PPOM
  I 2.34 (1.60–3.42) < .001 1.89 (1.06–3.39) .03
  II 2.10 (1.76–2.50) < .001 2.05(1.52–2.76) < .001
  III 2.28 (1.99–2.62) < .001 2.33 (1.88–2.89) < .001
  IV 1.88 (1.68–2.10) < .001 1.95 (1.63–2.33) < .001
  V 1.53 (1.40–1.68) < .001 1.50 (1.30–1.72) < .001
  VI 1.33 (1.23–1.44) < .001 1.34 (1.18–1.51) < .001
Neuritic plaque density
 OLR, POM 0.85 (0.73–0.99) .04
 OLR, PPOM
 Sparse 2.69 (2.21–3.26) < .001 2.79 (1.95–3.98) < .001
 Moderate 2.42 (2.07–2.84) < .001 2.42 (1.88–3.12) < .001
 Frequent 1.71 (1.55–1.88) < .001 1.63 (1.41–1.88) < .001
Lewy pathology stage
 BLR 1.03 (0.93–1.14) .52 1.04 (0.87–1.24) .66 1.45 (1.04–2.03) .03
  1. Results of multinomial, ordinal, and binary logistic regression models for each polygenic score and pathological diagnosis group and outcome variable are displayed. For ordinal logistic regressions, proportional odds models were used except in the case where the proportional odds assumption was violated, in which cases partial proportional odds models were used. Effects are reported per unit increase in the polygenic score. Significance was set to p < .017, Bonferroni corrected for comparisons across the three polygenic scores
  2. Abbreviations: RRR, relative risk ratio; OR, odds ratio; MLR, multinomial logistic regression; OLR, ordinal logistic regression; POM, proportional odds model; PPOM, partial proportional odds model; BLR, binary logistic regression PD, Parkinson’s disease, PRS, polygenic risk score; DLB, dementia with Lewy bodies; AD, Alzheimer’s disease; PHS, polygenic hazard score; FTD, frontotemporal lobar degeneration; MTLS, medial temporal lobe sclerosis