TABLE 2.
Studies that assessed the risk of congenital abnormalities according to the TCN2 rs1801198 (c.776G>C) polymorphism1
| Cases, n |
Controls, n |
||||||||
| Reference | STREGA score | Congenital abnormality | Country (ethnicity) | Study design | Population | Total | CC/CG/GG | Total | CC/CG/GG |
| Zetterberg et al., 2002 (37) | 9 of 19 | Spontaneous abortion | Crete (Caucasians) | Case-control | Children | 77 | 7/51/19 | 115 | 37/57/21 |
| Parle-McDermott et al., 2005 (38) | 12 of 19 | Spontaneous abortion | Ireland (Caucasians) | Case-control | Mother | 123 | 33/61/29 | 611 | 184/306/121 |
| Kim et al., 2014 (39) | 12 of 19 | Spontaneous abortion | Korea (East Asians) | Case-control | Mother | 378 | 88/200/90 | 207 | 55/111/41 |
| Altmäe et al., 2010 (40) | 14 of 19 | Female infertility | Sweden (Caucasians) | Case-control | Mother | 62 | 20/29/13 | 389 | 124/184/81 |
| Afman et al., 2002 (41) | 9 of 19 | Neural tube defect | Netherlands (Caucasians) | Case-control | Mother | 42 | 11/25/6 | 73 | 22/36/15 |
| Pietrzyk and Bik-Multanowski, 2003 (42) | 9 of 19 | Neural tube defect | Poland (Caucasians) | Case-control | Mother | 103 | 30/44/29 | 100 | 24/61/15 |
| Candito et al., 2008 (43) | 11 of 19 | Neural tube defect | France (Caucasians) | Case-control | Mother | 77 | 26/33/18 | 61 | 26/23/12 |
| Godbole et al., 2011 (44) | 13 of 19 | Neural tube defect | India (South Asians) | Case-control | Mother | 262 | 33/120/109 | 255 | 34/109/112 |
| Godbole et al., 2011 (44)2 | 13 of 19 | Neural tube defect | India (South Asians) | Case-control | Children | 255 | 34/109/112 | 668 | 105/309/254 |
| Martinelli et al., 2006 (45) | 11 of 19 | Cleft lip | Italy (Caucasians) | Case-control | Children | 218 | 85/110/23 | 289 | 89/150/50 |
| Jin et al., 2015 (46) | 12 of 19 | Cleft lip | China (East Asians) | Case-control | Children | 429 | 76/215/138 | 461 | 75/231/155 |
| Waltrick-Zambuzzi et al., 2015 (47) | 11 of 19 | Cleft lip | Brazil (admixed Americans) | Case-control | Children | 359 | 139/160/60 | 440 | 179/199/62 |
| Biselli et al., 2008 (48) | 9 of 19 | Down syndrome | Brazil (admixed Americans) | Case-control | Mother | 67 | 32/24/11 | 113 | 48/54/11 |
| Fintelman-Rodrigues et al., 2009 (49) | 12 of 19 | Down syndrome | Brazil (admixed Americans) | Case-control | Mother | 114 | 46/51/17 | 110 | 39/48/23 |
| Zampieri et al., 2012 (50) | 9 of 19 | Down syndrome | Brazil (admixed Americans) | Case-control | Mother | 105 | 42/46/17 | 185 | 75/93/17 |
| Liao et al., 2014 (51) | 10 of 19 | Down syndrome | China (East Asians) | Case-control | Mother | 76 | 14/42/20 | 108 | 28/43/37 |
| Mills et al., 2005 (52) | 12 of 19 | Omphalocele | USA (mixed)3 | Case-control | Children | 24 | 6/13/5 | 47 | 9/28/10 |
1
STREGA, Strengthening the Reporting of Genetic Association Studies; TCN2, transcobalamin 2.
2
DNA extracted from fetal tissue.
3
Non-Hispanic Caucasians: 48%; non-Hispanic Africans: 28%; Hispanic 20%; other 4%.