Table 1 Genetic variants significantly associated with clinical diagnosis or Aβ positivity

From: Whole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer’s disease and a cumulative effects model for risk liability

Gene

Locus

Type

Associated phenotype

Distance to TSS

Odd ratio (95%CI)

p value

APCDD1

chr18:10326201 (rs28372356)

SNV

Clinical diagnosis

− 128,434

1.65 (1.39–1.96)

1.81 × 10−8

HPSE2

chr10:98736468-98737614

DEL

Aβ

279,391–280,537

1.60 (1.25–1.99)

0.0001

  1. Two-sided Firth logistic regression (for SNV) or logistic regression (for DEL) was performed, without correction for multiple testing.
  2. CI confidence interval, FDR false discovery rate, SNV single-nucleotide variant, DEL copy number deletion, Aβ amyloid beta, TSS transcription start site.
Back to article page