Table 2.2.
SNPs from the TOMM40, APOC1, APOE and PVRL2 (NECTIN2) genes that showed most significant associations in GWAS of AD in CHS, FHS and HRS using Cox regression.
Dataset | SNP | p-Value | HR | Chr | Ref | Alt | MAF | Gene | Location |
---|---|---|---|---|---|---|---|---|---|
CHS | rs2075650 | 1.99E–15 | 2.3 | 19 | A | G | 0.12 | TOMM40 | Intron (LD with rs429358, rs769449 in APOE) |
rs12721046 | 2.39E–14 | 2.2 | 19 | G | A | 0.08 | APOC1 | Intron (LD with rs769449 and rs429358 in APOE) | |
rs405509 | 1.16E–05 | 1.4 | 19 | T | G | 0.47 | APOE | Upstream, promoter | |
rs6859 | 2.87E–05 | 1.4 | 19 | A | G | 0.37 | PVRL2 | 3′-UTR | |
rs8106922 | 8.34E–05 | 0.7 | 19 | A | G | 0.30 | TOMM40 | Intron | |
FHS | rs12721046 | 2.93E–09 | 2.0 | 19 | G | A | 0.08 | APOC1 | Intron (LD with rs769449 and rs429358 in APOE) |
rs2075650 | 1.46E–05 | 1.7 | 19 | A | G | 0.12 | TOMM40 | Intron (LD with rs429358, rs769449 in APOE) | |
HRS | rs115881343 | 2.03E–09 | 0.5 | 19 | C | G,T | 0.03 | TOMM40 | Intron |
rs76366838 | 1.71E–08 | 0.4 | 19 | G | A | 0.03 | TOMM40 | Intron | |
rs769449 | 3.12E–08 | 1.7 | 19 | G | A | 0.06 | APOE | Intron (LD with rs12721046 in APOC1, rs2075650 in TOMM40, rs429358 in APOE) | |
rs157582 | 1.68E–07 | 0.7 | 19 | C | T | 0.29 | TOMM40 | Intron | |
rs283815 | 3.07E–07 | 0.7 | 19 | A | G | 0.30 | PVRL2 | Intron (LD with rs429358 in APOE) | |
rs2075650 | 5.17E–07 | 1.5 | 19 | A | G | 0.12 | TOMM40 | Intron (LD with rs429358, rs769449 in APOE) | |
rs71352238 | 3.19E–06 | 1.5 | 19 | T | C | 0.09 | TOMM40 | Intron |
The columns notations: dataset name, SNP name, p-value in Cox regression, Hazard Ratio (HR) for Cox regression, chromosome (Chr), reference allele (Ref), alternative allele (Alt), minor allele frequency (MAF), gene’s name and location with LD information.