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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|
|
Q‐value c |
|
Q‐value c |
|
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.
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.
F1 = TDP‐43 and hippocampal sclerosis related score; F2 = Alzheimer's disease neuropathologic change related score; F3 = Lewy body pathology related score.
Q‐value indicates that false discovery rate (FDR) adjusted p‐value in each score and model.
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.