Table 3.

Effect of known AD susceptibility genes on CSF levels of Aβ_1–42 and pTau₁₈₁

Reference: case–control analysis (GWAS catalog)
Gene	Reported SNP	Risk allele frequency	OR	Minor allele	Major allele	Risk allele
							Effect of susceptibility allele on Aβ1-42 levelsa	Consistencyb	P	Effect of susceptibility allele on pTau181 levelsa	Consistencyb	P
APOE	rs429358 (APOE-ε4)	0.09	3–4	C	T	C	−0.404	Yes	4.3 × 10−17	0.113	Yes	0.024
ABCA7	rs3764650	0.1	1.23	G	T	G	−0.038	Yes	0.649	0.004	Yes	0.96
CR1	rs6656401	0.19	1.21	A	G	A	−0.104	Yes	0.094	0.121	Yes	0.06
PICALM	rs3851179	0.63	1.16	T	C	C	0.006	No	0.909	0.031	Yes	0.581
CLU	rs11136000	0.6	1.16	T	C	C	0	No	0.995	−0.007	No	0.909
BIN1	rs744373	0.29	1.15	G	A	G	0.007	No	0.895	0.078	Yes	0.17
EPHA1	rs11767557	0.79	1.11	C	T	T	0.003	No	0.964	0.015	Yes	0.818
CD2AP	rs9349407	0.29	1.11	C	G	C	−0.086	Yes	0.111	0.119	Yes	0.031
CD33	rs3865444	0.69	1.1	A	C	C	0.003	No	0.959	0.005	Yes	0.936
MS4A	rs610932	0.58	1.1	T	G	G	0.024	No	0.652	0.009	Yes	0.871

GWAS, genome-wide association study; CSF, cerebrospinal fluid; OR, odds ratio.

^aEffect estimate from regression analysis. Covariates used for the analysis are APOE, age and sex. Represents changes in Aβ_1–42 or pTau₁₈₁ levels in standard deviations per minor allele.

^bConsistency in allele direction between the OR observed in the present study and the OR reported in the GWAS catalog.