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Table 2 Disease associations of autopsy-confirmed LBD-NP and PSP patients

From: Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy

SNP Disease Cohort N Genotype counts MAF Logistic regression Fisher’s exact test
Cases Controls Cases Controls Cases Controls p value OR 95% CI p value OR 95% CI
ABI3 rs616338 LBD-NP Low 262 3351 0/6/256 0/68/3283 0.011 0.010 0.850 1.09 0.46–2.58 0.656 1.13 0.49–2.62
Intermediate 286 3351 0/15/271 0/68/3283 0.026 0.010 0.001 2.65 1.46–4.83 0.003 2.63 1.49–4.63
High 421 3351 0/5/416 0/68/3283 0.006 0.010 0.165 0.51 0.2–1.31 0.347 0.58 0.23–1.45
Combined LBD-NP 969 3351 0/26/943 0/68/3283 0.013 0.010 0.329 1.27 0.79–2.06 0.216 1.33 0.84–2.09
PSP PSP Series 1 230 3351 0/4/226 0/68/3283 0.009 0.010 0.729 0.83 0.3–2.35 1.000 0.86 0.31–2.36
PSP Series 2 808 3351 0/20/788 0/68/3283 0.012 0.010 0.284 1.33 0.79–2.25 0.418 1.22 0.74–2.02
Combined PSP 1038 3351 0/24/1014 0/68/3283 0.012 0.010 0.359 1.26 0.77–2.06 0.622 1.14 0.71–1.82
PLCG2 rs72824905 LBD-NP Low 262 3346 0/2/260 0/67/3279 0.004 0.010 0.152 0.35 0.08–1.47 0.239 0.38 0.09–1.55
Intermediate 286 3346 0/5/281 0/67/3279 0.009 0.010 0.567 0.76 0.29–1.97 1.000 0.87 0.35–2.17
High 420 3346 0/5/415 0/67/3279 0.006 0.010 0.320 0.62 0.25–1.58 0.345 0.59 0.24–1.47
Combined LBD-NP 968 3346 0/12/956 0/67/3279 0.006 0.010 0.107 0.59 0.31–1.12 0.136 0.62 0.33–1.14
PSP PSP Series 1 230 3346 0/8/222 0/67/3279 0.017 0.010 0.238 1.60 0.73–3.47 0.149 1.75 0.84–3.67
PSP Series 2 809 3346 0/12/797 0/67/3279 0.007 0.010 0.395 0.76 0.4–1.44 0.393 0.74 0.40–1.37
Combined PSP 1039 3346 0/20/1019 0/67/3279 0.010 0.010 0.741 0.91 0.54–1.56 1.000 0.96 0.58–1.59
  1. Nominally significant p values < 0.05 are shown in bold
  2. Results of multivariable logistic regression and Fisher’s exact test analysis using the additive model for association of ABI3_rs616338-T and PLCG2_rs72824905-G with LBD-NP and PSP disease status. The following covariates were applied: LBD-NP: sex, age, and APOE ε4 dosage. PSP: sex and age
  3. Genotypes for ABI3(rs616338)-(TT/CT/CC) and PLCG2(rs72824905)-(GG/CG/CC)
  4. PSP progressive supranuclear palsy, LBD-NP Lewy body disease, neuropathologic diagnosis, MAF minor allele frequency, OR odds ratio, CI confidence interval