Skip to main content

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