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Table 2 Main results of the pooled ORs in meta-analysis for the association between RNF213 rare variants and MMD or ICASO

From: Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review

Variants N Sample size (case/control) Dominant model Recessive model Allelic model
OR (95% CI) I 2 (%) p b p c OR (95% CI) I 2 (%) p b p c OR (95% CI) I 2 (%) p b p c
MMD
 (1) p.R4810K (rs112735431)
Total 23 2331/5476 85.91 (56.36–130.95)a 51.6 0.002 < 0.0001 13.19 (6.37–27.31) 0.0 0.886 < 0.0001 46.54 (36.73–58.97) 0.0 0.497 < 0.0001
Subgroup analysis
 Country
  Japan 8 661/1459 184.04 (119.56–283.29) 0.0 0.453 < 0.0001 19.52 (6.30–60.47) 0.0 0.666 < 0.0001 58.64 (40.88–84.12) 0.0 0.621 < 0.0001
   Familial 3 131/1124 1802.44 (472.97–6868,90) 0.0 0.757 < 0.0001 51.70 (11.53–231.80) 0.0 0.676 < 0.0001 77.40 (50.44–117.66) 0.0 0.370 < 0.0001
   Sporadic 8 530/1459 134.35 (86.77–208.02) 17.8 0.289 < 0.0001 9.93 (2.96–33.30) 0.0 0.884 < 0.0001 52.08 (35.41–76.60) 0.0 0.504 < 0.0001
  Korea 7 922/2278 109.77 (76.30–157.93) 0.0 0.889 < 0.0001 17.38 (3.08–98.07) 38.6 0.196 0.001 42.81 (30.25–60.57) 0.0 0.804 < 0.0001
   Familial 1 46/294 512.42 (130.85–2006.64) < 0.0001 33.09 (1.56–700.58) 0.025 69.41 (30.92–155.83) < 0.0001
   Sporadic 7 876/2278 99.82 (69.22–143.93) 0.0 0.858 < 0.0001 17.62 (3.14–99.02) 42.4 0.176 0.001 49.52 (35.11–69.85) 0.0 0.933 < 0.0001
  China 8 748/1739 31.53 (16.18–61.46) 24.2 0.236 < 0.0001 5.48 (1.64–18.35) 0.0 0.999 0.006 31.51 (16.02–62.00) 22.0 0.3 < 0.0001
   Familial 2 40/807 1109.02 (99.39–12,375.41) 0.0 0.943 < 0.0001 338.33 (12.08–9475.51) 0.001 575.09 (60.07–5505.59) 0.0 0.9891 < 0.0001
   Sporadic 8 743/1739 30.52 (15.63–59.59) 21.9 0.256 < 0.0001 5.12 (1.40–18.77) 0.0 0.998 0.014 29.77 (15.19–58.35) 5.3 0.390 < 0.0001
Total
   Familial 6 217/2225 1116.56 (462.75–2684.12) 0.0 0.849 < 0.0001 51.86 (14.18–189.64) 0.0 0.720 < 0.0001 85.35 (59.09–123.27) 22.7 0.156 < 0.0001
   Sporadic 23 2139/5476 75.03 (50.67–111.09)a 43.6 0.014 < 0.0001 9.41 (4.36–20.32) 0.0 0.957 < 0.0001 46.34 (36.32–59.13) 0.0 0.633 < 0.0001
(2) p.R2092C (rs139265462)
 Total 2 80/80 3.27 (0.32–33.80) 0.0 0.949 0.321 3.13 (0.31–31.28) 0.0 0.974 0.331
(3) p.D4013N (rs397514563)
 Total 3 285/432 6.47 (0.96–43.55) 0.0 0.443 0.055 6.18 (0.92–41.33) 0.0 0.433 0.06
(4) p.R4062Q
 Total 3 400/559 4.64 (0.72–29.96) 0.0 0.798 0.107 4.62 (0.72–29.76) 0.0 0.798 0.107
(5) p.A4399T (rs148731719)
 Total 5 585/924 1.15(0.41–3.25)a 70.8 0.008 0.79 4.80 (0.49–47.02) 0.0 0.611 0.178 1.19 (0.45–3.19)a 69.2 0.011 0.727
Subgroup analysis
 Japan 2 267/241 0.85(0.43–1.68) 0.0 0.374 0.636 2.78 (0.11–68.63) 0.532 0.90 (0.46–1.76) 0.0 0.426 0.767
 China 3 318/683 1.13(0.06–21.30)a 80.1 0.007 0.933 8.98 (0.36–221.54) 0.179 1.04 (0.07–15.72)a 79.6 0.007 0.975
(6) p.E4950D (rs371441113)
 Total 3 477/957 9.06 (1.49–55.27) 0.0 0.915 0.017 9.00 (1.48–54.78) 0.0 0.917 0.017
(7) p.A5021V (rs138130613)
 Total 4 324/827 5.01(1.57–15.98) 0.0 0.738 0.006 4.91 (1.55–15.53) 0.0 0.733 0.007
ICASO
 p.R4810K (rs112735431)
  Total 11 1778/3140 13.89 (8.01–24.09) 37.0 0.140 < 0.0001 2.70 (0.28–26.38) 0.0 0.764 0.394 13.01 (7.55–22.42) 18.3 0.269 < 0.0001
Subgroup analysis
 Japan 3 229/235 10.71 (3.97–28.91) 0.0 0.537 < 0.0001 1.89 (0.07–48.17) 0.7 10.00 (3.74–26.77) 0.0 0.570 < 0.0001
 Korea 4 517/1750 28.52 (11.04–73.67) 0.0 0.779 < 0.0001 24.16 (9.71–60.13) 0.0 0.845 < 0.0001
 China 4 1032/1155 5.59 (2.12–14.75) 11.6 0.335 0.001 3.80 (0.15–94.95) 0.416 5.76 (7.55–22.42) 13.0 0.328 < 0.0001
  1. N number of studies, − not available
  2. aORs were calculated under random-effects model
  3. b p value for Q test
  4. c p value for Z test, I 2, Higgins I 2 statistic