Genetic analysis of RNF213 p.R4810K variant in non-moyamoya intracranial artery stenosis/occlusion disease in a Chinese population

Table 3 Comparision of RNF213 p.R4810K distribution in MMD, non-MMD ICASO and normal individuals in Japan, Korea and China

Diseases	Countries	Cases						Normal individuals						OR (95%CI)^a	Reference
Diseases	Countries	N	GG	GA	AA	Carrier rate (%)	MAF%	N	GG	GA	AA	Carrier rate (%)	MAF%	OR (95%CI)^a	Reference
MMD	Japan	105	17	84	4	83.81	43.81	457	438	19	0	4.16	2.08	119.3 (59.7–238.7)	[2]
		161	16	135	10	90.06	48.14	384	374	9	1	2.60	1.43	338.9 (150.3–764.2)	[1]
		204	36	153	15	82.35	44.85	283	278	5	0	1.77	0.88	259.5 (99.9–674.1)	[10]
		48	7	40	1	85.42	43.75	25	25	0	0	0.00	0.00	-	[4]
		30	10	19	1	66.67	35.00	110	108	2	0	1.82	0.91	108.0 (22.0–530.3)	[6]
		103	27	71	5	73.79	39.32	95	93	2	0	2.11	1.05	130.9 (30.2–568.1)	[8]
		78	12	64	2	84.62	43.59	-	-	-	-	-	-	-	[11]
		-	-	-	-	-	-	1474	1437	34	3	2.51	1.36	-	[5]
		-	-	-	-	-	-	4308	4248	57	3	1.39	0.73	-	[14]
		-	-	-	-	-	-	519	510	9	0	1.73	0.87	-	[15]
	Korea	38	8	30	0	78.95	39.47	223	217	6	0	2.69	1.35	135.6 (44.0–417.8)	[1]
		131	32	99	0	75.57	37.79	51	51	0	0	0.00	0.00	-	[9]
		165	40	112	13	75.76	41.82	294	286	8	0	2.72	1.36	111.7 (50.8–245.6)	[12]
		288	89	199	0	69.10	34.55	83	82	1	0	1.20	0.60	183.3 (25.1–1338.1)	[13]
		-	-	-	-	-	-	1516	1479	37	0	2.44	1.22	-	[16]
	China	52	40	11	1	23.08	12.50	100	98	2	0	2.00	1.00	14.7 (3.1–68.7)	[1]
		170	148	21	1	12.94	6.76	507	505	2	0	0.39	0.20	37.5 (8.7–161.5)	[3]
		96	87	8	1	9.38	5.21	96	95	1	0	1.04	0.52	9.8 (1.2–79.2)	[14]
		81	69	10	2	14.81	8.64	100	98	2	0	2.00	1.00	8.5 (1.8–39.3)	[16]
		255	175	78	2	31.37	16.08	300	300	0	0	0.00	0.00	-	[15]
		-	-	-	-	-	-	587	582	5	0	0.85	0.43	-	[5]
Non-MMD ICASO	Japan	41	32	8	1	21.95	12.20	25	25	0	0	0.00	0.00	-	[4]
	Japan	84	64	20	0	23.81	11.90	110	108	2	0	1.82	0.91	16.8 (3.8–74.6)	[6]
	Korea	221	144	77	0	34.84	17.42	51	51	0	0	0.00	0.00	-	[9]
	Korea	234	184	50	0	21.37	10.68	83	82	1	0	1.20	0.60	22.3 (3.0–164.1)	[13]
	China	715	709	6	0	0.84	0.42	507	505	2	0	0.39	0.20	2.14 (0.42–10.63)	This study

MMD moyamoya disease, Non-MMD ICASO non-moyamoya intracranial artey stenosis/occlusion disease, N sample size, MAF minor allele frequency
^aOdds ratio (95% confidence interval) under dominant model.- can’t calculate

ISSN: 1347-4715