Diseases | Rare variants | Author and reference | Year | Country | Sample size | Mean age (years) | Family history of MMD (%) | Genotypea | Carrier rate (%) | OR(95% CI)b | NOS | HWE | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Case | Control | Case | Control | Case | Control | Case | Control | Case | Control | ||||||||
MMD | p.R4810K (rs112735431) G>A | Kamada et al. [11] | 2011 | Japan | 105 | 457 | – | – | – | – | 17/84/4 | 438/19/0 | 83.81 | 4.16 | 119.33 (59.66–238.7) | 8 | 0.65 |
Liu et al. [12] | 2011 | Japan | 161 | 384 | 29.9 ± 21.4 | 61.8 ± 10.2 | – | – | 16/135/10 | 374/9/1 | 90.06 | 2.60 | 338.94 (150.32–764.20) | 7 | 0.01 | ||
Liu et al. [12] | 2011 | Korea | 38 | 223 | 38.7 ± 14.1 | 40.7 ± 10.9 | – | – | 8/30/0 | 217/6/0 | 78.95 | 2.69 | 135.63 (44.02–417.86) | 8 | 0.84 | ||
Liu et al. [12] | 2011 | China | 52 | 150 | 22.7 ± 17.9 | 39.4 ± 10.9 | – | – | 40/11/1 | 148/2/0 | 23.08 | 1.33 | 22.20 (4.77–103.26) | 7 | 0.93 | ||
Miyatake et al. [35] | 2012 | Japan | 204 | 283 | 22.7 ± 17.9 |  | 20.1 | – | 36/153/15 | 278/5/0 | 82.35 | 1.77 | 259.47 (99.86–674.15) | 7 | 0.88 | ||
Miyawaki et al. [21] | 2012 | Japan | 48 | 25 | 48.4 ± 18.7 | 49.8 ± 16.1 | – | – | 7/40/1 | 25/0/0 | 85.42 | 0.00 | 282.20 (15.45–5153.83)c | 7 | – | ||
Wu et al. [13] | 2012 | China | 170 | 507 | 35.8 ± 13.2 | 37.2 ± 16.9 | 2.9 | 0 | 148/21/1 | 505/2/0 | 12.94 | 0.39 | 37.53 (8.72–161.47) | 9 | 0.96 | ||
Wang et al. [27] | 2013 | China | 96 | 96 | 43.0 ± 13.7 | 42.6 ± 9.4 | – | – | 87/8/1 | 95/1/0 | 9.38 | 1.04 | 9.83 (1.22–79.17) | 9 | 0.96 | ||
Miyawaki et al. [22] | 2013 | Japan | 30 | 110 | 46.7 ± 18.4 | 39.1 ± 14.1 | – | – | 10/19/1 | 108/2/0 | 66.67 | 1.8182 | 108.00 (21.99–530.34) | 7 | 0.92 | ||
Bang et al. [23] | 2015 | Korea | 131 | 51 | 51.3 ± 13.7d | – | – | – | 32/98/1 | 51/0/0 | 75.57 | 0.00 | 315.34 (18.92–5254.74)c | 7 | – | ||
Lee et al. [15] | 2015 | China | 36 | 500 | – | – | 22.2 | – | 30/6/0 | 498/2/0 | 16.67 | 0.40 | 49.80 (9.64–257.29) | 7 | 0.96 | ||
Moteki et al. [16] | 2015 | Japan | 103 | 95 | 27[9–42]e | – | 26.2 | – | 27/71/5 | 93/2/0 | 73.79 | 2.11 | 130.89 (44.02–417.86) | 7 | 0.92 | ||
Huang et al. [36] | 2015 | China | 52 | 80 | 41.6 ± 11.2 | 40 ± 10.4 | – | – | 45/6/1 | 79/1/0 | 13.46 | 1.25 | 12.29 (1.46–103.10) | 8 | 0.96 | ||
Kim et al. [37] | 2016 | Korea | 165 | 294 | 21.3 ± 13.6 | 40.9 ± 10.9 | 27.9 | – | 40/112/13 | 286/8/0 | 75.76 | 2.72 | 111.72 (50.82–245.58) | 7 | 0.81 | ||
Shoemaker et al. [17] | 2016 | Japan | 5 | 5 | – | – | – | – | 2/3/0 | 5/0/0 | 60.00 | 0.00 | 18.20 (0.67–494.80)c | 7 | – | ||
Shoemaker et al. [17] | 2016 | Korea | 11 | 11 | – | – | – | – | 3/8/0 | 11/0/0 | 72.73 | 0.00 | 55.86 (2.53–1231.23)c | 7 | – | ||
Shoemaker et al. [17] | 2016 | China | 6 | 6 | – | – | – | – | 5/0/1 | 6/0/0 | 16.67 | 0.00 | 3.55 (0.12–105.82)c | 7 | – | ||
Huang et al. [18] | 2016 | China | 81 | 100 | 42.7 ± 12.2 | 40.2 ± 11.9 | – | – | 69/10/2 | 98/2/0 | 14.81 | 2.00 | 8.52 (1.85–39.29) | 8 | 0.92 | ||
Bang et al. [24] | 2016 | Korea | 288 | 83 | 45.9 ± 12.7 | 56.0 ± 12.2 | 10.1 | – | 89/199/0 | 82/1/0 | 69.10 | 1.20 | 183.35 (25.12–1338.15) | 7 | 0.96 | ||
Zhang et al. [19] | 2016 | China | 255 | 300 | 26.7 ± 14.7 | 28.0 ± 15.9 | 13.7 | – | 175/78/2 | 300/0/0 | 31.37 | 0.00 | 275.67 (16.99–4473.13)c | 9 | – | ||
Park et al. [38] | 2017 | Korea | 25 | 100 | 49 ± 7.1 | – | – | – | 7/18/0 | 98/2/0 | 72.00 | 2.00 | 126.00 (24.20–656.00) | 9 | 0.92 | ||
Jang et al. [39] | 2017 | Korea | 264 | 1516 | 44.4 |  |  |  | 86/177/1 | 1479/37/0 | 67.42 | 2.44 | 87.38 (57.75–132.22) | 7 | 0.63 | ||
Shinya et al. [40] | 2017 | Japan | 5 | 100 | 46.4 ± 19.3 | 68.8 ± 15.8 | – | – | 1/4/0 | 98/2/0 | 80.00 | 2.00 | 196.00 (14.55–2639.78) | 9 | 0.92 | ||
p.R2092C (rs139265462) C>T | Shoemaker et al. [17] | 2015 | European | 74 | 74 | – | – | – | – | 73/1/0 | 74/0/0 | 1.35 | 0.00 | 3.04 (0.12–75.86)c | 7 | – | |
Shoemaker et al. [17] | 2015 | Hispanic | 6 | 6 | – | – | – | – | 5/1/0 | 6/0/0 | 16.67 | 0.00 | 3.55 (0.12–105.82)c | 7 | – | ||
p.D4013N (rs397514563) G>A | Liu et al. [12] | 2011 | Czech | 8 | 120 | – | – | – | – | 7/1/0 | 120/0/0 | 12.50 | 0.00 | 48.20 (1.81–1286.73)c | 7 | – | |
Cecchi et al. [14] | 2014 | European | 22 | 12 | – | – | – | – | 19/3/0 | 12/0/0 | 13.64 | 0.00 | 4.49 (0.21–94.47)c | 6 | – | ||
Zhang et al. [19] | 2016 | China | 255 | 300 | 26.7 ± 14.7 | 28.0 ± 15.9 | 13.7 | – | 254/1/0 | 300/0/0 | 0.39 | 0.00 | 3.54 (0.14–87.33)c | 9 | – | ||
p.R4062Q G>A | Liu et al. [12] | 2011 | German | 42 | 164 | – | – | – | – | 41/1/0 | 164/0/0 | 2.38 | 0.00 | 11.89 (0.48–297.23)c | 7 | – | |
Moteki et al. [16] | 2015 | Japan | 370 | 279 | – | – | – | – | 369/1/0 | 279/0/0 | 0.27 | 0.00 | 2.27 (0.09–55.92)c | 7 | – | ||
Zhang et al. [19] | 2016 | China | 255 | 300 | 26.7 ± 14.7 | 28.0 ± 15.9 | 13.7 | – | 254/1/0 | 300/0/0 | 0.39 | 0.00 | 3.54 (0.14–87.33)c | 9 | – | ||
p.A4399T (rs148731719) G>A | Kamada et al. [11] | 2011 | Japan | 63 | 53 | – | – | – | – | 59/4/0 | 51/2/0 | 6.35 | 3.77 | 1.73 (0.30–9.83) | 8 | 0.89 | |
Miyatake et al. [35] | 2012 | Japan | 204 | 188 | 22.7 ± 17.9 | – | 20.1 | – | 191/12/1 | 172/16/0 | 6.37 | 8.51 | 0.73 (0.34–1.56) | 7 | 0.54 | ||
Wu et al. [13] | 2012 | China | 170 | 507 | 48.4 ± 18.7 | 49.8 ± 16.1 | – | – | 142/27/1 | 462/45/0 | 16.47 | 8.88 | 2.60 (1.53–4.43) | 9 | 0.3 | ||
Wang et al. [27] | 2013 | China | 96 | 96 | 43.0 ± 13.7 | 42.6 ± 9.4 | – | – | 96/0/0 | 85/11/0 | 0.00 | 11.46 | 0.04 (0.00–0.66)c | 9 | 0.55 | ||
Huang et al. [36] | 2015 | China | 52 | 80 | 41.6 ± 11.2 | 40 ± 10.4 | – | – | 49/3/0 | 80/0/0 | 5.77 | 0.00 | 11.38 (0.58–225.08)c | 8 | – | ||
p.E4950D (rs371441113) G>C | Liu et al. [12] | 2011 | China | 52 | 150 | 22.7 ± 17.9 | 39.4 ± 10.9 | – | – | 50/2/0 | 150/0/0 | 3.85 | 0.00 | 14.90 (0.70–315.60)c | 7 | – | |
Wu et al. [13] | 2012 | China | 170 | 507 | 48.4 ± 18.7 | 49.8 ± 16.1 | – | – | 169/1/0 | 507/0/0 | 0.59 | 0.00 | 8.98 (0.36–221.54)c | 9 | – | ||
Zhang et al. [19] | 2016 | China | 255 | 300 | 26.7 ± 14.7 | 28.0 ± 15.9 | 13.7 | – | 253/2/0 | 300/0/0 | 0.78 | 0.00 | 5.93 (0.28–124.02)c | 9 | – | ||
p.A5021V (rs138130613) C>T | Liu et al. [12] | 2011 | China | 52 | 150 | 22.7 ± 17.9 | 39.4 ± 10.9 | – | – | 50/2/0 | 150/0/0 | 3.85 | 0.00 | 14.90 (0.70–315.60)c | 7 | – | |
Wu et al. [13] | 2012 | China | 170 | 507 | 48.4 ± 18.7 | 49.8 ± 16.1 | – | – | 169/1/0 | 507/0/0 | 0.59 | 0.00 | 8.98 (0.36–221.54)c | 9 | – | ||
Wang et al. [27] | 2013 | China | 50 | 90 | – | – | – | – | 47/3/0 | 89/1/0 | 6.00 | 1.11 | 2.39 (0.39–14.80) | 9 | 0.91 | ||
Huang et al. [36] | 2015 | China | 52 | 80 | 41.6 ± 11.2 | 40 ± 10.4 | – | – | 49/3/0 | 78/2/0 | 5.77 | 2.50 | 5.68 (1.57–15.98) | 8 | 0.96 | ||
ICASO | p.R4810K (rs112735431) G>A | Miyawaki et al. [21] | 2012 | Japan | 41 | 25 | 62.3 ± 11.3 | 49.8 ± 16.1 | – | – | 32/8/1 | 25/0/0 | 21.95 | 0.00 | 14.91 (0.83–268.43)c | 7 | – |
Miyawaki et al. [22] | 2013 | Japan | 84 | 110 | 61.5 ± 12.6 | 39.1 ± 14.1 | – | – | 64/20/0 | 108/2/0 | 23.81 | 1.82 | 16.88 (3.82–74.58) | 7 | 0.92 | ||
Bang et al. [23] | 2015 | Korea | 221 | 51 | – | – | – | – | 144/77/0 | 51/0/0 | 34.84 | 0.00 | 55.24 (3.36–907.41)c | 7 | – | ||
Huang et al. [36] | 2015 | China | 64 | 80 | 42.5 ± 12.2 | 40 ± 10.4 | – | – | 58/5/1 | 79/1/0 | 9.38 | 1.25 | 8.17 (0.96–69.74) | 8 | 0.96 | ||
Shang et al. [41] | 2015 | China | 139 | 300 | – | – | – | – | 138/1/0 | 299/1/0 | 0.72 | 0.33 | 2.17 (0.43–10.63) | 8 | 0.98 | ||
Bang et al. [24] | 2016 | Korea | 234 | 83 | 56.0 ± 12.2 | – | – | – | 184/50/0 | 82/1/0 | 21.37 | 1.20 | 22.28 (3.03–164.07) | 7 | 0.96 | ||
Kim et al. [25] | 2016 | Korea | 31 | 1516f | – | – | – | – | 17/140 | 1479/37/0 | 45.16 | 2.44 | 32.92 (15.11–71.74) | 7 | 0.63 | ||
Park et al. [38] | 2017 | Korea | 31 | 100 | 49 ± 14.1 | – | – | – | 24/7/0 | 98/2/0 | 22.58 | 2.00 | 14.58 (2.85–74.69) | 9 | 0.92 | ||
Zhang et al. [42] | 2017 | China | 715 | 507 | – | – | – | – | 709/6/0 | 505/2/0 | 0.84 | 0.39 | 2.14 (0.43–10.63) | 7 | 0.96 | ||
Xue et al. [43] | 2017 | China | 114 | 268 |  |  |  |  | 106/8/0 | 267/1/0 | 7.54 | 0.37 | 20.15 (2.49–163.08) | 9 | 0.98 | ||
Shinya et al. [40] | 2017 | Japan | 104 | 100 | – | 68.80 ± 15.8 | – | – | 94/10/0 | 98/2/0 | 9.62 | 2.00 | 5.21 (1.11–24.42) | 9 | 0.92 |