Table 1.
AD imaging biomarker | Data type | Chr:position (hg19) | dbSNP ID | Genea | PFb | Previously reported | P |
---|---|---|---|---|---|---|---|
I. Cerebral amyloid-β accumulation measured by PiB-PET | |||||||
Aβ deposition | Bin.c | chr3:39138840 | rs3732377 | GORASP1 | 0.237 | Novel | 9.32 × 10−4 |
chr3:39139776 | rs1109643 | GORASP1 | 0.161 | Novel | 9.79 × 10−4 | ||
chr3:39149277 | rs28362644 | GORASP1 | 0.162 | Novel | 7.02 × 10−4 | ||
chr11:47345916 | rs2290149 | MADD | 0.082 | Novel | 2.02 × 10−4 | ||
Quant.d | chr12:130839165 | rs10848087 | PIWIL1 | 0.105 | Novel | 5.05 × 10−4 | |
II. Glucose metabolism levels measured by FDG-PET | |||||||
AD-Cm | Bin. | chr1:227077809 | rs75733498 | PSEN2 | 0.083 | Novel | 1.75 × 10−4 |
Quant. | chr7:37890267 | rs2722372 | NME8 | 0.191 | Novel | 7.63 × 10−4 | |
PCC-Cm | Quant. | chr7:37890267 | rs2722372 | NME8 | 0.191 | Novel | 5.71 × 10−4 |
III. Cortical thickness measured by MRI | |||||||
AD-Ct | Bin. | chr14:73686944 | rs7523 | PSEN1 | 0.161 | Novel | 1.74 × 10−5 |
Quant. | chr12:130839165 | rs10848087 | PIWIL1 | 0.105 | Novel | 2.94 × 10−4 | |
IV. Hippocampal volume reduction measured by MRI | |||||||
Hv | Quant. | chr20:55033476 | rs3746623 | CASS4 | 0.945 | Novel | 1.73 × 10−4 |
chr20:55033647 | rs3746625 | CASS4 | 0.946 | Novel | 1.73 × 10−4 | ||
chr20:55033713 | rs3746626 | CASS4 | 0.946 | Novel | 1.73 × 10−4 | ||
chr20:55033856 | rs4811697 | CASS4 | 0.946 | Known [27] | 3.42 × 10−4 | ||
Both | chr12:130839165 | rs10848087 | PIWIL1 | 0.105 | Novel | 4.24 × 10−4 |
aThe most closely located gene from each variant
bPopulation frequency in the KBASE cohort
cCategorical variable trait transformed from normalized neuroimaging data by each criterion
dQuantitative normalized neuroimaging variable trait