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Table 1 List of common variants that significantly associated with brain imaging features (P < 1.0 × 10−3)

From: Genetic associations of in vivo pathology influence Alzheimer’s disease susceptibility

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
  1. aThe most closely located gene from each variant
  2. bPopulation frequency in the KBASE cohort
  3. cCategorical variable trait transformed from normalized neuroimaging data by each criterion
  4. dQuantitative normalized neuroimaging variable trait