Table 2 Gene-based analysis of non-synonymous and damaging SORL1 variants in each of the demographic groups studied

From: SORL1 variants across Alzheimer’s disease European American cohorts

Test Non-synonymous PoD/PrD
  n cMAF-A cMAF-U P-value n cMAF-A cMAF-U P-value
sEOAD
 SKAT 4 0.041 0.016 0.055 4 0.041 0.016 0.055
sLOAD
 SKAT 17 0.104 0.111 0.795 6 0.052 0.060 0.945
fLOAD
 G-SKAT 45    0.097 17    0.362
 SKATa 45    0.341 17    0.569
  1. Abbreviations: cMAF-A, cumulative minor allele frequency in affected indivdiuals; cMAF-U, cumulative minor allele frequency in unaffected individuals; fLOAD, familiar late-onset Alzheimer’s disease; n, number of SNPs included in kernel association test; PoD/PrD, possibly damaging/probably damaging according to Polyphen2; sEOAD, sporadic early-onset Alzheimer’s disease; sLOAD, sporadic late-onset Alzheimer’s disease.
  2. aFour principal components and kinship matrix were included as covariates to account for related individuals.