Key result
The MTR C allele of rs1770449 in infants was associated with an increased risk of congenital heart diseases (OR 1.961) compared to the wild-type allele.
Why the study?
Genetic polymorphisms of folate pathway genes have been reported to be associated with congenital heart diseases, but results remain conflicting.
Are genetic polymorphisms in MTR associated with the risk of non-syndromic congenital heart disease in a Chinese population?
Case-Control (n=368)
No
Are genetic polymorphisms in MTR associated with the risk of non-syndromic congenital heart disease in a Chinese population?
Odds Ratio: 1.961 (95% CI 1.379–2.788)
p-value: p=0.003
MTR polymorphisms (rs1770449 and rs1050993) are associated with an increased risk of congenital heart diseases and modify the protective effect of maternal folate intake.
Supports MTR variant investigation in congenital heart disease etiology; leaves open replication and utility for folate-guided prevention.
Genetic polymorphisms of folate pathway genes have been reported to be associated with congenital heart diseases (CHDs); however, the results remain conflicting. We conducted a family-based case-control study, which included160 CHD case-parent triads and 208 control-parent triads to explore the association of 18 genetic variants of seven folate metabolism-related genes with the risk of CHDs. The MTR C allele of rs1770449 (OR = 1.961, 95%CI: 1.379-2.788) and the MTR A allele of rs1050993 (OR = 1.994, 95%CI: 1.401-2.839) in infants were associated with an increased risk of CHDs. Over-transmission of SNPs rs1770449 and rs1050993 and haplotype CAA (rs1770449-rs1805087-rs1050993) in MTR were detected in total CHDs. The above mentioned associations of MTR with CHDs were also observed in septal defects and conotruncal heart defects subgroups. Without maternal periconceptional folate intake, the risk of CHDs among women carrying the rs1770449 "CT or CC" genotype or the rs1050993 "AG or AA" genotype in MTR was 3.262(95%CI: 1.656-6.429) or 3.263(95%CI: 1.656-6.429) times greater than the aOR in women carrying wild genotype, respectively. Our study suggests that MTR polymorphisms (rs1770449 and rs1050993) may be associated with the risk of CHDs and modify the relation between maternal folate intake and CHDs.
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Deng et al. (2019) conducted a case-control in Non-syndromic congenital heart disease (n=368). MTR genetic polymorphisms (rs1770449 C allele) vs. Wild-type genotype (T allele) was evaluated on Risk of congenital heart disease (OR 1.961, 95% CI 1.379-2.788, p=0.003). The MTR C allele of rs1770449 in infants was associated with an increased risk of congenital heart diseases (OR 1.961) compared to the wild-type allele.
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