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Table 1 Description of informative phenotypes and genotypes available in the 27 families with a LoF variant

From: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

 

Probands

Affected relatives

Unaffected relatives

Informative phenotypes,N

27

61

246

 Males/females, N (%)a

11 (41%)/16 (59%)

16 (26%)/45 (74%)

121 (50%)/120 (50%)

 Age, y, median (Q1–Q3)

58 (52.5–61)

67 (63–74)

68 (55.25–78)

Available genotypes,N

27

13

32

 SORL1 carriers, N (%)

27 (100%)

9 (69%)

11 (34%)

 APOE × SORL1 (+ vs WT)

+

+

WT

+

WT

  ε4 non-carriers, N (%)

7 (26%)

6 (46%)

3 (23%)

7 (22%)

14 (44%)

  ε4 heterozygous carriers, N (%)

18 (67%)

3 (23%)

1 (8%)

2 (6%)

6 (19%)

  ε4ε4 carriers, N (%)

2 (7%)

0 (0%)

0 (0%)

2 (6%)

1 (3%)

  1. We considered as informative individuals for the phenotype, all those having well-established disease status as well as AAO or censoring above 40 years. Genotypes were available for 71 (21%) of individuals with informative phenotype as well as for one unaffected relative (censoring age 37 years, genotype APOE-ε4 heterozygous, SORL1 WT)
  2. N number, y years, Q1 first quartile, Q3 third quartile, WT wild type
  3. aPercentages are given over known gender
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Genome Medicine

ISSN: 1756-994X

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