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