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. 2024 Mar 9;20(4):2906–2921. doi: 10.1002/alz.13741

TABLE 2.

Top single nucleotide variants in genes associated with proteinopathy.

CHR Gene SNV Position Effect/reference Model a F1 b F2 b F3 b
β^
Q‐value c
β^
Q‐value c
β^
Q‐value c
1 GBA rs140335079 155237596 A/T 1 0.26 0.28 −0.02 0.93 −0.68 0.015
2 0.38 0.12 0.01 0.98 −0.69 0.017
2 BIN1 rs6733839 127135234 T/C 1 0.06 0.28 0.15 0.018 0.12 0.040
2 0.00 0.99 0.11 0.064 0.08 0.19
7 TMEM106B rs10950392 12223912 T/C 1 0.18 0.0017 −0.11 0.084 −0.10 0.098
2 0.22 3.6×10−5 −0.15 0.0097 −0.10 0.14
17 GRN rs5848 d 44352876 T/C 1 0.19 0.0018 −0.05 0.48 −0.06 0.30
2 0.21 2.2×10−4 −0.10 0.081 −0.08 0.22
19 APOE rs429358 44908684 C/T 1 0.36 5.1×10−8 0.64 1.1×10−23 0.22 0.0028
2 0.14 0.037 0.50 4.5×10−16 0.06 0.38

Abbreviations: CHR, chromosome; SNV, single nucleotide variant.

a

Model 1 = adjusted for age at death, sex, and top three principal components; Model 2 = adjusted for age at death, sex, top three principal components, and other scores.

b

F1 = TDP‐43 and hippocampal sclerosis related score; F2 = Alzheimer's disease neuropathologic change related score; F3 = Lewy body pathology related score.

c

Q‐value indicates that false discovery rate (FDR) adjusted p‐value in each score and model.

d

The p‐value of Hardy‐Weinberg equilibrium test for rs5848 in AD controls was 1.2×10−61; however, we displayed the results because rs5848 is well‐known as TDP‐43 related single nucleotide variant.