Table 2.

Genotype frequencies of RNF213 in moyamoya disease (MMD) patients and control subjects.

Genotype	Controls, n = 253 (%)	MMD, n = 117 (%)	COR (95% CI)	p	FDR-P	AOR (95% CI) *	p	FDR-P
RNF213 4448G>A
GG	219 (86.6)	109 (93.2)	1.000 (reference)			1.000 (reference)
GA	33 (13.0)	8 (6.8)	0.487 (0.218–1.090)	0.080	0.107	0.472 (0.210–1.061)	0.069	0.092
AA	1 (0.4)	0	N/A	N/A		N/A	N/A
Dominant (GG vs. GA+AA)			0.473 (0.212–1.056)	0.068	0.091	0.463 (0.207–1.039)	0.062	0.083
HWE P	0.837	0.702
RNF213 4810G>A
GG	234 (92.5)	14 (12.0)	1.000 (reference)			1.000 (reference)
GA	19 (7.5)	102 (87.2)	89.73 (43.31–185.9)	<0.001	0.004	94.43 (44.45–200.6)	<0.001	0.004
AA	0	1 (0.9)	N/A	N/A		N/A	N/A
Dominant (GG vs. GA+AA)			90.61 (43.74–187.7)	<0.001	0.004	95.34 (45.45–192.8)	<0.001	0.004
HWE P	0.535	0
RNF213 4863G>A
GG	223 (88.1)	108 (92.3)	1.000 (reference)			1.000 (reference)
GA	30 (11.9)	9 (7.7)	0.619 (0.284–1.351)	0.229	0.229	0.574 (0.258–1.278)	0.174	0.174
AA	0	0	N/A	N/A		N/A	N/A
Dominant (GG vs. GA+AA)			0.619 (0.284–1.351)	0.229	0.229	0.574 (0.258–1.278)	0.174	0.174
HWE P	0.316	0.665
RNF213 4950G>A
GG	224 (88.5)	91 (77.8)	1.000 (reference)			1.000 (reference)
GA	29 (11.5)	26 (22.2)	2.207 (1.232–3.952)	0.008	0.016	2.194 (1.216–3.958)	0.009	0.018
AA	0	0	N/A	N/A		N/A	N/A
Dominant (GG vs. GA+AA)			2.207 (1.232–3.952)	0.008	0.016	2.194 (1.216–3.958)	0.009	0.018
HWE P	0.334	0.176

* Adjusted by age and gender. MMD, moyamoya disease. Abbreviation: MMD, moyamoya disease; COR, crude odd ratio; CI, confidence interval, FDR, false discovery rate; AOR, adjusted odd ratio; HWE, Hardy-Weinberg equilibrium; N/A, not application.