Table 1.
Characteristics of the studies included on associations between MTHFR C677T/A1298C polymorphisms and congenital heart disease.
| First author | Year | Country | Ethnicity | Source of controls | Genotyping method | Types of CHD | Maternal or fetal | SNP sites |
HWE | |
|---|---|---|---|---|---|---|---|---|---|---|
| MTHFR 677CT | MTHFR 1298AC | |||||||||
| Balderrabano-Saucedo (Balderrabano-Saucedo et al., 2013) | 2013 | Mexico | Caucasian | HB | RFLP | All types | Maternal | Yes | Yes | |
| Božovic (Bozovic et al., 2011) | 2011 | Croatia | Caucasian | PB | RFLP | All types | Both | Yes | Yes | Yes |
| Hobbs (Hobbs et al., 2010) | 2010 | United States | Caucasian | PB | TaqMan | All types | Maternal | Yes | Yes | |
| García-Fragoso (Garcia-Fragoso et al., 2010) | 2010 | Puerto Rico | Caucasian | HB | RFLP | All types | Both | Yes | No | |
| Xu (Xu et al., 2010) | 2010 | Chinese | Asian | HB | RFLP | All types | Fetal | Yes | Yes | Yes |
| Li (Li et al., 2009b) | 2009 | Chinese | Asian | HB | RFLP | All types | Fetal | Yes | Yes | |
| van Driel (van Driel et al., 2008) | 2008 | Netherlands | Caucasian | PB | RFLP | All types | Both | Yes | Yes | Yes |
| Wintner (Wintner et al., 2007) | 2007 | Austria | Caucasian | HB | Microarray | All types | Maternal | Yes | Yes | |
| van Beynum (van Beynum et al., 2006) | 2006 | Netherlands | Caucasian | PB | RFLP | All types | Maternal | Yes | Yes | |
| Galdieri (Galdieri et al., 2007) | 2007 | Brazil | Caucasian | HB | RFLP | All types | Both | Yes | Yes | Yes |
| Zhu (Zhu et al., 2006) | 2006 | Chinese | Asian | NA | RFLP | ASD/PDA | Both | Yes | Yes | |
| Lee (Lee et al., 2005) | 2005 | Chinese | Asian | HB | DHPLC | All types | Fetal | Yes | Yes | |
| Shaw (Shaw et al., 2005) | 2005 | United States | Caucasian | PB | Hybridization | All types | Fetal | Yes | Yes | |
| Storti (Storti et al., 2003) | 2003 | Italy | Caucasian | HB | RFLP | CD | Both | Yes | Yes | Yes |
| Junker (Junker et al., 2001) | 2001 | Germany | Caucasian | NA | NA | All types | Fetal | Yes | Yes | |
| Sanchez-Urbina (Sanchez-Urbina et al., 2012) | 2012 | Mexico | Caucasian | PB | RFLP | All types | Both | Yes | No | |
| Yan (Yan and Li, 2003) | 2003 | Chinese | Asian | HB | RFLP | All types | Fetal | Yes | Yes | |
| Gong (Gong et al., 2012) | 2012 | Chinese | Asian | HB | MassArray | CD | Fetal | Yes | Yes | |
| Wang (Wang, 2006) | 2004 | Chinese | Asian | HB | RFLP | All types | Both | Yes | No | |
| Peng (Peng et al., 2009) | 2009 | Chinese | Asian | HB | DHPLC | All types | Maternal | Yes | Yes | |
| Li (Li et al., 2009a) | 2009 | Chinese | Asian | HB | RFLP | All types | Fetal | Yes | Yes | |
| Gong (Gong et al., 2009) | 2009 | Chinese | Asian | HB | RFLP | All types | Fetal | Yes | Yes | |
| Liu (Liu et al., 2005) | 2005 | Chinese | Asian | HB | RFLP | CD | Fetal | Yes | Yes | |
| Li (Li et al., 2005) | 2005 | Chinese | Asian | PB | RFLP | All types | Both | Yes | Yes | |
Abbreviations: HWE, Hardy–Weinberg equilibrium; NA, not available; RFLP, restriction fragment length polymorphism; DHPLC, denaturing high performance liquid chromatography; CD, conotruncal heart defects; ASD, atrial septal defect; PDA, patent ductus arteriosus; PB, population-based; HB, hospital-based.