. 2022 Jun 1;68(3):115–124. doi: 10.1038/s10038-022-01050-z

Table 3.

Statistics of AD susceptibility loci found in Japanese, Chinese and South Korean populations

SNP^a	CHR:POS (GRCh38)^b	Nearest gene^c	Location	The number of subjects in East Asian^d (Discovery cohort / Replication cohort)	Healthy controls	Stratification	OR^e	MAF (gnomAD v3.1.2)^f			Genotyping platform	Reference
SNP^a	CHR:POS (GRCh38)^b	Nearest gene^c	Location	AD patients	Healthy controls	Stratification	OR^e	East Asian	non-Finnish European	MAF difference^g	Genotyping platform	Reference
Japanese studies
rs4598682	11:121,505,242	SORL1	intron	891/885	844/985	All samples	0.75	0.192	0.01884	0.173	SNP array, PCR assay	[24]
rs1992269	18:1,872,316	ENSG00000266602	intron	816/1011	7992/7212	All samples	1.66	0.01777	0.1819	−0.164	SNP array, PCR assay	[26]
rs802571	7:146,265,094	CNTNAP2	intron	489/528	6463/5824	APOEε4 non-carrier	0.52	0.02928	0.03317	−0.004	SNP array, PCR assay	[26]
rs11613092	12:118,455,443	SUDS3	intergenic	323/480	1484/1364	APOEε4 carrier	0.61	0.1367	0.06899	0.068	SNP array, PCR assay	[26]
rs920608	4:76,217,307	FAM47E, SCARB2	intron	3962/1216	4074/2446	All samples	0.65	0.0433	0.009	0.034	SNP array, PCR assay	[27]
Chinese studies
rs72713460	14:54,830,325	GCH1	intergenic	477	2187	All samples	1.74	0.1339	0.2188	−0.085	WGS	[28]
rs2591054	15:57,320,212	LINC01413	intron	477	2187	All samples	0.61	0.2489	0.4126	−0.164	WGS	[28]
rs73052335	19:44,916,825	APOC1	intron	477	2187	All samples	4.27	0.09286	0.1247	−0.032	WGS	[28]
rs928771	21:38,291,838	KCNJ15	intron	477	2187	All samples	1.59	0.1549	0.4975	−0.343	WGS	[28]
rs3777215	5:95,786,296	RHOBTB3, GLRX	intron	1595/2234	2474/5085	All samples	0.69	0.1683	0.2307	−0.062	SNP array, MALDI-TOFMS	[29]
rs6859823	5:106,218,683	ENSG00000252337	intergenic	1595/2234	2474/5085	All samples	0.74	0.3688	0.425	−0.056	SNP array, MALDI-TOFMS	[29]
rs234434	14:97,354,683	LINC02325	intergenic	1595/2234	2474/5085	All samples	1.71	0.2398	0.3077	−0.068	SNP array, MALDI-TOFMS	[29]
rs2255835	21:18,119,346	CHODL	intron	1595/2234	2474/5085	All samples	1.23	0.296	0.6536	−0.358	SNP array, MALDI-TOFMS	[29]
South Korean studies
rs12063304	1:24,745,177	CLIC4	intergenic	543/331	169/894	All samples	0.57	0.04822	0.03179	0.016	WGS, SNP array	[30]
rs80020083	7:158,491,056	PTPRN2	intron	543/331	169/894	All samples	0.56	0.03888	0.0003527	0.039	WGS, SNP array	[30]
rs967326	8:18,689,751	PSD3	intron	543/331	169/894	All samples	1.33	0.3275	0.0523	0.275	WGS, SNP array	[30]
rs144835823	10:107,242,334	SORCS1	intergenic	543/331	169/894	All samples	0.32	0.01719	0.0000294	0.017	WGS, SNP array	[30]
rs78442236	10:107,273,420	SORCS1	intergenic	543/331	169/894	All samples	0.21	0.01676	0.0000294	0.017	WGS, SNP array	[30]
rs74352072	11:119,921,300	ENSG00000288047	intergenic	543/331	169/894	All samples	1.39	0.2301	0.0004703	0.230	WGS, SNP array	[30]
rs79919241	15:92,891,403	CHASERR	intron	543/331	169/894	All samples	1.45	0.08674	0.046	0.041	WGS, SNP array	[30]
rs201351606	17:1,179,646	ABR	intron	543/331	169/894	All samples	0.23	0.01897	0.00004415	0.019	WGS, SNP array	[30]
rs117665140	17:60,203,564	USP32	intron	543/331	169/894	All samples	1.74	0.05327	0.00001471	0.053	WGS, SNP array	[30]
rs1890078	10:107,218,478	SORCS1	intergenic	331/190	169/97	APOEε4 carrier	0.43	0.0792	0.0689	0.010	WGS, SNP array	[30]
rs12594991	15:92,973,197	CHD2	intron	331/190	169/97	APOEε4 carrier	2.21	0.1496	0.5297	−0.380	WGS, SNP array	[30]
rs189753894	19:13,513,675	CACNA1A	intron	976/815	621/435	APOEε4 non-carrier	1.787	0.3598	0.02503	0.335	SNP array	[31]
rs2280575	3:66,492,439	LRIG1	intron	976/815	621/435	APOEε4 non-carrier	0.544	0.05939	0.2958	−0.236	SNP array	[31]

SNP single nucleotide polymorphism, CHR chromosome, POS genomic postion, MAF minor allele frequency, OR odds ratios calculated according to the minor allele

^aEach SNP is a representative SNP identified from the East Asian cohort

^bGenomic position was based on GRCh38

^cThe nearest genes were based on GENCODE V39

^dThe number of subjects shows QC-passed East Asian subjects used in each study

^eOdds ratio indicates a value calculated in the final East Asian cohort, not including non-East Asian cohort(s)

^fMAF was provided by gnomAD v3.1.2.

^gMAF difference was calculated by subtracting MAF in East Asian from that in non-Finnish European