Table 2. Gene-based analysis of non-synonymous and damaging SORL1 variants in each of the demographic groups studied.
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 |
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.
Four principal components and kinship matrix were included as covariates to account for related individuals.