Table 1. The characteristics of included studies.
| First author, year | Country | Ethnicity | Sex, male (%) Case/ Control | Age (years) Case/ Control | Type of disease | Sample size | Genotype distribution | P-value for HWE | NOS score | |
|---|---|---|---|---|---|---|---|---|---|---|
| Cases | Controls | |||||||||
| rs1801394 | ||||||||||
| Benke, 2015 | Hungry | Caucasian | 59.2/61.5 | 2.42/3.08 | CHD | 72/117 | 64/7/1 | 110/6/1 | 0.016 | 7 |
| Christensen, 2013 | Canada | Mixed | NA | NA | CHD | 245/65 | 68/123/54 | 22/32/11 | 0.912 | 7 |
| Gong, 2010 | China | Asian | NA | NA | CHD | 60/60 | 38/21/1 | 52/6/2 | 0.007 | 7 |
| Guo, 2017 | China | Asian | NA | 2.31/2.48 | CHD | 99/114 | 44/46/9 | 67/44/3 | 0.174 | 8 |
| Guo, 2017 | China | Asian | NA | 2.33/2.47 | VSD | 21/114 | 7/11/3 | 67/44/3 | 0.174 | 8 |
| Hassan, 2017 | Egypt | Caucasian | 36.0/32.0 | 1.30/1.28 | CHD | 100/100 | 26/32/42 | 48/36/16 | 0.048 | 8 |
| Liu, 2007 | China | Asian | 48.5/NA | 6.50/NA | CHD | 132/107 | 33/84/15 | 52/45/10 | 0.953 | 7 |
| Locke, 2010 | U.S.A. | Mixed | NA | NA | CHD | 92/94 | 27/50/15 | 31/46/17 | 0.993 | 7 |
| Noori, 2017 | Iran | Caucasian | NA | NA | CHD | 153/147 | 46/74/33 | 61/63/23 | 0.323 | 7 |
| Noori, 2017 | Iran | Caucasian | NA | NA | VSD | 74/147 | 24/32/18 | 61/63/23 | 0.323 | 7 |
| Noori, 2017 | Iran | Caucasian | NA | NA | TOF | 79/147 | 22/42/15 | 61/63/23 | 0.323 | 7 |
| Pishva, 2013 | Iran | Caucasian | 46.3/44.8 | 4.51/5.43 | VSD | 123/125 | 41/54/28 | 62/53/10 | 0.776 | 7 |
| Su, 2017 | China | Asian | NA | NA | VSD | 183/201 | 68/97/18 | 107/85/9 | 0.120 | 8 |
| van Beynum, 2006 | Netherlands | Caucasian | NA | NA | CHD | 159/245 | 51/83/25 | 74/124/47 | 0.699 | 7 |
| Verkleij-Hagoort, 2008 | Netherlands | Caucasian | NA | 1.40/1.39 | CHD | 229/251 | 79/112/38 | 77/122/52 | 0.774 | 7 |
| Wang, 2013 | China | Asian | NA | NA | CHD | 160/188 | 90/59/11 | 105/71/12 | 0.999 | 7 |
| Wang, 2018 | China | Asian | NA | 2.18/1.81 | CHD | 102/100 | 51/39/12 | 75/21/4 | 0.126 | 7 |
| Weine, 2012 | Russia | Caucasian | NA | 2.15/2.11 | CHD | 51/390 | 19/23/9 | 128/191/71 | 0.986 | 7 |
| Zeng, 2011 | China | Asian | 43.4/47.2 | NA | CHD | 599/672 | 309/234/56 | 375/253/44 | 0.880 | 8 |
| Zhao, 2012 | China | Asian | 52.4/54.4 | 6.59/6.59 | CHD | 2340/2270 | 1308/860/172 | 1294/818/158 | 0.067 | 8 |
| rs1532268 | ||||||||||
| Hassan, 2017 | Egypt | Caucasian | 36.0/32.0 | 1.30/1.28 | CHD | 100/100 | 14/40/46 | 38/36/26 | 0.007 | 8 |
| Pishva, 2013 | Iran | Caucasian | 46.3/44.8 | 4.51/5.43 | VSD | 123/125 | 53/50/20 | 66/54/5 | 0.134 | 7 |
| Su, 2017 | China | Asian | NA | NA | VSD | 183/201 | 66/96/21 | 105/80/16 | 0.889 | 8 |
| Zeng, 2011 | China | Asian | 43.4/47.2 | NA | CHD | 599/672 | 383/201/15 | 476/176/20 | 0.450 | 8 |
| rs1801131 | ||||||||||
| Božović, 2011 | Croatia | Caucasian | 49.1/49.3 | 1.03/2.78 | CHD | 54/221 | 30/22/2 | 101/98/22 | 0.803 | 7 |
| Brandalize, 2009 | Brazil | African | NA | NA | CHD | 239/197 | 143/84/12 | 113/76/8 | 0.275 | 8 |
| Chao, 2014 | Taiwan | Asian | 11.8/38.2 | 46.7/50.9 | PDA | 17/34 | 13/2/2 | 15/19/0 | 0.024 | 8 |
| Christensen, 2013 | Canada | Mixed | NA | NA | CHD | 246/65 | 133/93/20 | 36/22/7 | 0.212 | 7 |
| Feng, 2016 | China | Asian | 46.3/63.2 | 1.3/1.9 | CHD | 257/49 | 194/51/12 | 35/14/0 | 0.243 | 7 |
| Galdieri, 2007 | Brazil | African | NA | NA | CHD | 57/38 | 35/21/1 | 19/16/3 | 0.884 | 7 |
| Guo, 2017 | China | Asian | NA | 2.31/2.48 | CHD | 99/114 | 71/28/0 | 89/24/1 | 0.655 | 8 |
| Guo, 2017 | China | Asian | NA | 2.33/2.48 | VSD | 21/114 | 14/7/0 | 89/24/1 | 0.655 | 8 |
| Huang, 2014 | China | Asian | 56.1/57.5 | 2.54/2.70 | TOF | 170/206 | 111/56/3 | 146/54/6 | 0.712 | 8 |
| Koshy, 2015 | India | Caucasian | NA | NA | CHD | 96/100 | 27/32/37 | 58/20/22 | <0.001 | 7 |
| Locke, 2010 | U.S.A. | Mixed | NA | NA | CHD | 87/88 | 42/39/6 | 30/49/9 | 0.090 | 7 |
| Obermann-Borst, 2011 | Netherlands | Caucasian | 60.8/55.9 | 17.0/17.3 | CHD | 139/183 | 69/57/13 | 75/90/18 | 0.227 | 8 |
| Sahiner, 2014 | Turkey | Caucasian | 57.1/NA | 7.63/NA | CHD | 137/93 | 45/68/24 | 31/54/8 | 0.022 | 8 |
| Sayin Kocakap, 2015 | Turkey | Caucasian | NA | NA | CHD | 69/99 | 20/36/13 | 51/37/11 | 0.288 | 8 |
| Shi, 2015 | China | Asian | 38.85/57.41 | 2.18/2.12 | CHD | 153/216 | 95/39/19 | 157/53/6 | 0.555 | 7 |
| Storti, 2003 | Italy | Caucasian | NA | 2.50/2.58 | CHD | 100/100 | 43/46/11 | 50/43/7 | 0.582 | 7 |
| van Driel, 2008 | Netherlands | Caucasian | 58.0/57.0 | 1.40/1.39 | CHD | 230/251 | 104/102/24 | 116/104/31 | 0.311 | 8 |
| Wang, 2018 | China | Asian | NA | 2.18/1.81 | CHD | 102/100 | 57/40/5 | 60/36/4 | 0.624 | 7 |
| Xu, 2010 | China | Asian | 53.7/53.0 | 6.50/6.69 | CHD | 502/527 | 316/168/18 | 326/185/16 | 0.091 | 8 |
| Xu, 2010 | China | Asian | NA | NA | VSD | 257/527 | 169/86/2 | 326/185/16 | 0.091 | 8 |
| Xu, 2010 | China | Asian | NA | NA | ASD | 41/527 | 21/16/4 | 326/185/16 | 0.091 | 8 |
| Zidan, 2013 | Egypt | Caucasian | NA | NA | CHD | 80/80 | 16/27/37 | 30/26/24 | 0.002 | 7 |
| rs1801133 | ||||||||||
| Božović, 2011 | Croatia | Caucasian | 49.1/49.3 | 1.03/2.78 | CHD | 54/221 | 20/28/6 | 101/97/23 | 0.968 | 7 |
| Brandalize, 2009 | Brazil | African | NA | NA | CHD | 239/197 | 94/113/32 | 86/93/18 | 0.313 | 8 |
| Chao, 2014 | Taiwan | Asian | 11.8/38.2 | 46.7/50.9 | PDA | 17/34 | 10/5/2 | 19/12/3 | 0.586 | 8 |
| Christensen, 2013 | Canada | Mixed | NA | NA | CHD | 246/65 | 94/117/35 | 27/29/9 | 0.787 | 7 |
| Feng, 2016 | China | Asian | 46.3/63.2 | 1.3/1.9 | CHD | 257/49 | 122/114/21 | 21/22/6 | 0.949 | 7 |
| Galdieri, 2007 | Brazil | African | NA | NA | CHD | 58/38 | 30/21/7 | 18/14/6 | 0.263 | 7 |
| Gong, 2012 | China | Asian | 65.5/61.8 | 1.91/1.58 | CHD | 244/136 | 45/123/76 | 43/72/21 | 0.309 | 9 |
| Gong, 2012 | China | Asian | 61.6/61.8 | 1.55/1.58 | TOF | 120/136 | 21/59/40 | 43/72/21 | 0.309 | 9 |
| Gong, 2012 | China | Asian | 69.4/61.8 | 2.27/1.58 | TGA | 124/136 | 24/64/36 | 43/72/21 | 0.309 | 9 |
| Guo, 2017 | China | Asian | NA | 2.31/2.48 | CHD | 99/114 | 20/41/38 | 36/48/30 | 0.097 | 8 |
| Guo, 2017 | China | Asian | NA | 2.33/2.48 | VSD | 21/114 | 8/8/5 | 36/48/30 | 0.097 | 8 |
| Huang, 2014 | China | Asian | 56.1/57.5 | 2.54/2.70 | TOF | 168/204 | 63/45/60 | 84/72/48 | <0.001 | 8 |
| Jiang, 2015 | China | Asian | NA | 2.34/2.35 | CHD | 100/100 | 38/46/16 | 41/48/11 | 0.523 | 7 |
| Jing, 2013 | China | Asian | NA | NA | CHD | 104/208 | 16/42/46 | 55/114/39 | 0.139 | 7 |
| Junker, 2001 | Germany | Caucasian | 53.0/NA | 16.0/NA | CHD | 114/228 | 51/42/21 | 129/78/21 | 0.075 | 7 |
| Koshy, 2015 | India | Caucasian | 63.5/49.0 | 6.51/7.61 | CHD | 96/90 | 95/1/0 | 83/7/0 | 0.701 | 7 |
| Kuehl, 2010 | U.S.A. | Mixed | 50.4/56.0 | NA | CHD | 55/300 | 12/33/10 | 134/134/32 | 0.861 | 8 |
| Lee, 2005 | Taiwan | Asian | NA | NA | CHD | 213/195 | 110/89/14 | 114/68/13 | 0.513 | 7 |
| Li, 2005 | China | Asian | 48.4/57.2 | NA | CHD | 183/103 | 30/95/58 | 22/57/24 | 0.277 | 7 |
| Li, 2013 | China | Asian | 54.2/57.1 | 2.68/2.79 | CHD | 144/168 | 26/52/66 | 49/84/35 | 0.928 | 7 |
| Liu, 2007 | China | Asian | 48.5/NA | 6.5/NA | CHD | 132/107 | 30/68/34 | 46/48/13 | 0.930 | 7 |
| Locke, 2010 | U.S.A. | Mixed | NA | NA | CHD | 91/94 | 38/39/14 | 49/37/8 | 0.787 | 7 |
| Noori, 2017 | Iran | Caucasian | NA | NA | CHD | 153/147 | 95/51/7 | 100/46/1 | 0.078 | 7 |
| Noori, 2017 | Iran | Caucasian | NA | NA | VSD | 74/147 | 24/32/18 | 100/46/1 | 0.078 | 7 |
| Noori, 2017 | Iran | Caucasian | NA | NA | TOF | 79/147 | 22/42/15 | 100/46/1 | 0.078 | 7 |
| Obermann-Borst, 2011 | Netherlands | Caucasian | 60.8/55.9 | 1.41/1.44 | CHD | 139/183 | 64/66/9 | 92/76/15 | 0.900 | 8 |
| Sahiner, 2014 | Turkey | Caucasian | 57.1/NA | 7.63/NA | CHD | 136/93 | 69/53/14 | 47/39/7 | 0.779 | 8 |
| Sayin Kocakap, 2015 | Turkey | Caucasian | NA | NA | CHD | 75/95 | 40/33/2 | 43/44/8 | 0.484 | 8 |
| Shaw, 2005 | China | Asian | NA | NA | CHD | 153/434 | 69/68/16 | 202/180/52 | 0.227 | 7 |
| Shi, 2015 | China | Asian | 38.85/57.41 | 2.18/2.12 | CHD | 153/216 | 55/68/30 | 70/101/45 | 0.444 | 7 |
| Storti, 2003 | Italy | Caucasian | NA | 2.50/2.58 | CHD | 100/100 | 27/53/20 | 26/54/20 | 0.401 | 7 |
| van Beynum, 2006 | Netherlands | Caucasian | 55.0/49.0 | 3.4/9.4 | CHD | 158/261 | 72/68/18 | 131/107/23 | 0.863 | 7 |
| van Driel, 2008 | Netherlands | Caucasian | 58.0/57.0 | 1.40/1.39 | CHD | 229/251 | 99/103/27 | 119/107/25 | 0.895 | 8 |
| Wang, 2013 | China | Asian | NA | NA | CHD | 160/188 | 59/76/25 | 53/100/35 | 0.312 | 7 |
| Wang, 2016 | China | Asian | NA | NA | CHD | 147/168 | 14/73/60 | 49/84/35 | 0.928 | 8 |
| Wang, 2018 | China | Asian | NA | 2.18/1.83 | CHD | 102/100 | 31/58/13 | 55/42/3 | 0.130 | 7 |
| Xu, 2010 | China | Asian | 53.7/53.0 | 6.50/6.69 | CHD | 502/527 | 162/244/96 | 151/261/115 | 0.911 | 8 |
| Xu, 2010 | China | Asian | NA | NA | VSD | 257/527 | 83/130/44 | 151/261/115 | 0.911 | 8 |
| Xu, 2010 | China | Asian | NA | NA | ASD | 41/527 | 12/17/12 | 151/261/115 | 0.911 | 8 |
| Xu, 2013 | China | Asian | 64.8/52.4 | NA | CHD | 228/230 | 73/106/49 | 124/74/32 | <0.001 | 8 |
| Yan, 2003 | China | Asian | NA | NA | CHD | 187/103 | 32/97/58 | 22/57/24 | 0.277 | 7 |
| Zhou, 2012 | China | Asian | 48.5/57.8 | NA | TOF | 136/277 | 23/60/53 | 88/126/63 | 0.168 | 8 |
| Zhu, 2006 | China | Asian | 35.1/57.7 | 6.2/8.4 | CHD | 56/103 | 7/22/27 | 22/57/24 | 0.277 | 7 |
| Zhu, 2006 | China | Asian | NA | NA | ASD | 22/103 | 3/7/12 | 22/57/24 | 0.277 | 7 |
| Zhu, 2006 | China | Asian | NA | NA | PDA | 34/103 | 4/15/15 | 22/57/24 | 0.277 | 7 |
| Zidan, 2013 | Egypt | Caucasian | NA | NA | CHD | 80/80 | 18/21/41 | 32/21/27 | <0.001 | 7 |
Abbreviations: ASD, atrial septal defect; CHD, congenital heart disease; HWE, Hardy–Weinberg equilibrium; NA, not available; NOS, Newcastle–Ottawa scale; PDA, patent ductus arteriosus; TGA, transposition of the great arteries; TOF, tetralogy of fallot; VSD, ventricular septal defect.