Table 1 Baseline demographic information for the participants included in the DIAN-OBS data release 15 (n = 534)

From: Positron emission tomography and magnetic resonance imaging methods and datasets within the Dominantly Inherited Alzheimer Network (DIAN)

  

Mutation non-carriers

Mutation carriers: asymptomatic

Mutation carriers: symptomatic

P value

Effect size

Cohort

n

216

214

104

–

–

 

Age in years (s.e.)

37.10 (0.75)

33.75 (0.61)

45.14 (0.97)

9.88 × 10−19

0.15

 

Sex: n (%) female

123 (57%)

120 (56%)

58 (56%)

0.97

0.01

 

Handedness: n (%) right

187 (87%)

188 (88%)

94 (90%)

0.62

0.04

 

Education in years (s.e.)

14.77 (0.20)

14.78 (0.19)

13.41 (0.34)

5.8 × 10−4

0.03

 

n (%) White

196 (91%)

188 (88%)

90 (87%)

0.46

0.05

Clinical

EYO (s.e.)

−10.49 (0.79)

−14.30 (0.61)

2.79 (0.49)

–

–

 

CDR: n (%) unimpaired

204 (95%)

214 (100%)

0 (0%)

−

−

Genetics

n (%) PSEN1

–

150 (70%)

82 (79%)

  
 

n (%) PSEN1 pre-codon 200**

–

53 (35%)

30 (37%)

  
 

n (%) PSEN2

–

24 (11%)

1 (1%)

  
 

n (%) APP

–

40 (19%)

21 (20%)

  
 

n (%) APOE-ε4+

66 (30%)

63 (29%)

27 (26%)

0.70

0.04

Cognition

MMSE (s.e.)

29.63 (0.45)

29.36 (0.32)

23.68 (0.95)

2.03 × 10−10

0.11

 

General cognition*** (s.e.)

0.04 (0.06)

0.11 (0.08)

−1.01 (0.19)

8.65 × 10−11

0.12

  1. All P values are relative to the highest-level model, with α = 0.05. For age, all follow-up pairwise comparisons are significant after Bonferroni adjustment for multiple comparisons, for years of education, MMSE and general cognition; only P values for contrasts including symptomatic mutation carriers remain significant after Bonferroni adjustment for multiple comparisons.
  2. **Pre-codon 200 values represent the percentage of PSEN1 mutation carriers with mutations occurring before the 200th codon of PSEN1. ***General cognition depicts averaged z-scores across four cognitive tests, computed relative to unimpaired mutation non-carriers with EYO between −10 and 0.
  3. Here, participants are categorized into three groups representing ADAD mutation-carrying status and level of cognitive impairment. All depicted variables represent mean values with s.e. in parentheses or percentages. Statistical tests were used to compare distributions of these characteristics across these three groups and are one-way ANOVAs or χ2 tests, where appropriate. Effect sizes represent partial η2 or φ, as appropriate. More detailed information regarding self-identified race is reported in Extended Data Fig. 1.
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