Skip to main content
. 2021 Sep 14;16(3):554–561. doi: 10.4103/ajns.AJNS_372_20

Table 3.

Studies from 19 countries showing relationship between methylenetetrahydrofolate reductase gene polymorphisms and neural tube defects among subjects of different ethnicities

Study Study type Population type/ethnicity Subjects Presence/absence of association or MTHFR polymorphism as a risk factor for NTH
Hayati et al., 2008 Case-control Malay 22 cases, 20 controls No association
Sadewa et al., 2002 Case-control Indonesian Javanese 68 cases, 244 controls No risk factor
Dutta et al., 2017 Case-control North East Indian 40 cases, 80 controls Possible risk factor
Boduroglu et al., 1999 Case-control Turkish 91 cases, 93 controls No association
Erdogan, 2010 Case-control Turkish 33 children, 46 controls No association, no risk factor
Behunova et al., 2010 Case-control Slovak 93 cases, 290 controls No association
Barber et al., 2000 Case-control American Hispanic 149 cases, 195 controls No risk factor
Mornet et al., 1997 Case-control French 43 cases, 133 controls No risk factor
Munoz et al., 2007 Case-control Mexican 118 cases, 112 controls Possible risk factor
Nasri et al., 2019 Case-control Tunisian 119 cases, 127 controls Risk factor in father group
Richter et al., 2001 Case-control German 356 cases, 233 controls No association
Nauman et al., 2018 Case-control Pakistani 109 cases, 100 controls Maternal TT homozygous genotype an independent risk factor
Kondo et al., 2014 Case-control Japanese 115 mothers, 4517 controls No association
Kirke et al., 2004 Case-control Irish 397 cases, 848 controls CT and TT genotype as possible risk factor
Naushad et al., 2010 Case-control South India 100 cases, 160 controls No association, T allele as possible risk factor
Cunha et al., 2002 Case-control Brazil 46 cases, 75 controls No association, no risk factor
Yu et al., 2014 Case-control Chinese 271 cases, 192 controls Some degree of association, risk factor
Deb et al., 2001 Case-control North India 111 cases, 220 controls TT genotype as risk factor depending on religion and nutritional habits
Rama Devi et al., 2004 Cross-sectional South India 608 subjects Strong association
Maternal TT genotype as risk factor
Pardo et al., 2014 Cross-sectional Chile 105 subjects No risk factor
Green et al., 2013 Cross-sectional Irish 331 subjects No association
Mutchinick et al., 1999 Cross-sectional Maxican 250 subjects Marked association as well as risk factor
Nishio et al., 2008 Cross-sectional Japanese 170 subjects Marked association

MTHFR – Methylenetetrahydrofolate reductase; NTD – Neural tube defect