Skip to main content

Table 3 Subgroup analyses of AD risk in the families imposed by APOE and polygenic risk score

From: Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families

 

Total

Pathogenic variant

No pathogenic variant

  

All

APP/PSEN1

VUS

Low APOE-risk (<1)

High APOE-risk (>2)

APOE-risk

No. of families

36

8

6

8

NA

NA

Mean

0.96

0.29

0.10

1.44

NA

NA

Standard deviation

0.83

0.60

0.45

0.64

NA

NA

vs. Rest, P-value

NA

0.010*

0.006*

0.063

NA

NA

Polygenic risk score

No. of families

36

8

6

8

11

7

Mean

0.05

0.03

−0.22

0.18

−0.001

0.16

Standard deviation

0.28

0.39

0.19

0.15

0.22

0.24

vs. Rest, P-value

NA

0.379

0.009*

0.129

0.515

0.241

  1. The increased risk conveyed by APOE and PRS was compared across subsets of families with/without pathogenic variants (all eight or only those with APP/PSEN1 variants), with/without a VUS, and with/without increased APOE-risk. Low APOE-risk (<1, OR = 2.7) was defined by the absence of APOE-ε44 carriers in the family, whereas a high risk (>2, OR = 7.34) indicates complete segregation with APOE-ε44. For APOE-risk, families were compared using a Mann-Whitney U test, whereas for PRS an unpaired t-test was performed. *Below significance threshold of P < 0.05. Abbreviations: VUS variant of uncertain significance