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

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

SNP	Disease	Cohort	N		Genotype counts		MAF		Logistic regression			Fisher’s exact test
SNP	Disease	Cohort	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

Nominally significant p values < 0.05 are shown in bold
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
Genotypes for ABI3(rs616338)-(TT/CT/CC) and PLCG2(rs72824905)-(GG/CG/CC)
PSP progressive supranuclear palsy, LBD-NP Lewy body disease, neuropathologic diagnosis, MAF minor allele frequency, OR odds ratio, CI confidence interval

ISSN: 2051-5960