Genome-wide analysis of genetic predisposition to Alzheimer’s disease and related sex disparities

Nazarian, Alireza; Yashin, Anatoliy I.; Kulminski, Alexander M.

doi:10.1186/s13195-018-0458-8

Alzheimer's Research & Therapy

Table 6 Significantly AD-associated probe/genes from transcriptome-wide analyses on brain tissue data

From: Genome-wide analysis of genetic predisposition to Alzheimer’s disease and related sex disparities

Probe ID	Gene	Top eQTL	Chromosomal region	Position	A1	A1 Freq	P _GWAS	P _eQTL	b _SMR	SE_SMR	P _SMR	P _HEIDI	Brain region
Plan 2—only males
ENSG00000179979.7	CRIPAK	rs3817604	4p16.3	1,297,549	T	0.120	4.10E–04	1.14E–09	0.358	0.089	6.24E–05	4.13E–01	Hippocampus
ENSG00000170325.10	PRDM10	rs55746218	11q24.3	129,964,624	C	0.076	9.33E–03	2.10E–09	0.867	0.205	2.33E–05	2.81E–01	Cerebellar hemisphere
Plan 3—only females
ENSG00000173209.18	AHSA2	rs2600667	2p15	61,177,796	T	0.297	1.75E–04	1.53E–22	−0.330	0.075	1.19E–05	9.70E–02	Caudate basal ganglia
ENSG00000173209.18	AHSA2	rs2600667	2p15	61,177,796	T	0.297	1.75E–04	9.79E–40	−0.216	0.047	4.36E–06	1.29E–01	Cerebellum
ENSG00000173209.18	AHSA2	rs2600667	2p15	61,177,796	T	0.297	1.75E–04	6.30E–28	−0.292	0.065	7.72E–06	1.33E–01	Cortex
ENSG00000173209.18	AHSA2	rs2600667	2p15	61,177,796	T	0.297	1.75E–04	2.30E–15	−0.335	0.080	3.08E–05	8.00E–02	Hypothalamus
ENSG00000173209.18	AHSA2	rs2600667	2p15	61,177,796	T	0.297	1.75E–04	2.65E–24	−0.262	0.059	1.01E–05	7.39E–02	Nucleus accumbens
ENSG00000173209.18	AHSA2	rs2600667	2p15	61,177,796	T	0.297	1.75E–04	7.23E–22	−0.217	0.050	1.27E–05	2.11E–01	Putamen basal ganglia
ENSG00000173209.18	AHSA2	rs2600667	2p15	61,177,796	T	0.297	1.75E–04	5.43E–13	−0.331	0.082	5.05E–05	3.20E–01	Substantia nigra
ENSG00000152348.11	ATG10	rs11748868	5q14.1	82,066,661	C	0.091	4.30E–05	2.70E–09	−0.281	0.066	1.85E–05	8.05E–02	Nucleus accumbens
ENSG00000152348.11	ATG10	rs11748868	5q14.1	82,066,661	C	0.091	4.30E–05	1.39E–09	−0.263	0.061	1.55E–05	1.02E–01	Putamen basal ganglia

Genomic coordinates are based on Human Genome version 38 (hg38)
AD Alzheimer’s disease, eQTL expression quantitative trait loci, A1 effect allele, A1/A1 freq effect allele and its frequency, GWAS genome-wide association study, SMR summary-data-based Mendelian randomization, SE standard error, HEIDI Heterogeneity in Dependent Instruments

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ISSN: 1758-9193

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