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. 2020 Nov 19;12:156. doi: 10.1186/s13195-020-00722-2

Table 1.

List of common variants that significantly associated with brain imaging features (P < 1.0 × 10−3)

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