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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