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Genetic variation in folate metabolism is associated with the risk of conotruncal heart defects in a Chinese population.


ABSTRACT: BACKGROUND:Conotruncal heart defects (CTDs) are a subgroup of congenital heart defects that are considered to be the most common type of birth defect worldwide. Genetic disturbances in folate metabolism may increase the risk of CTDs. METHODS:We evaluated five single-nucleotide polymorphisms (SNPs) in genes related to folic acid metabolism: methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), solute carrier family 19, member 1 (SLC19A1 G80A), methionine synthase (MTR A2576G), and methionine synthase reductase (MTRR A66G), as risk factors for CTDs including various types of malformation, in a total of 193 mothers with CTD-affected offspring and 234 healthy controls in a Chinese population. RESULTS:Logistic regression analyses revealed that subjects carrying the TT genotype of MTHFR C677T, the C allele of MTHFR A1298C, and the AA genotype of SLC19A1 G80A had significant 2.47-fold (TT vs. CC, OR [95% CI]?=?2.47 [1.42-4.32], p?=?0.009), 2.05-2.20-fold (AC vs. AA, 2.05 [1.28-3.21], p?=?0.0023; CC vs AA, 2.20 [1.38-3.58], p?=?0.0011), and 1.68-fold (AA vs. GG, 1.68 [1.02-2.70], p?=?0.0371) increased risk of CTDs, respectively. Subjects carrying both variant genotypes of MTHFR A1298C and SLC19A1 G80A had a higher (3.23 [1.71-6.02], p?=?0.0002) increased risk for CTDs. Moreover, the MTHFR C677T, MTHFR A1298C, and MTRR A66G polymorphisms were found to be significantly associated with the risk of certain subtypes of CTD. CONCLUSIONS:Our data suggest that maternal folate-related SNPs might be associated with the risk of CTDs in offspring.

SUBMITTER: Wang X 

PROVIDER: S-EPMC6117882 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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Genetic variation in folate metabolism is associated with the risk of conotruncal heart defects in a Chinese population.

Wang Xike X   Wei Haitao H   Tian Ying Y   Wu Yue Y   Luo Lei L  

BMC pediatrics 20180830 1


<h4>Background</h4>Conotruncal heart defects (CTDs) are a subgroup of congenital heart defects that are considered to be the most common type of birth defect worldwide. Genetic disturbances in folate metabolism may increase the risk of CTDs.<h4>Methods</h4>We evaluated five single-nucleotide polymorphisms (SNPs) in genes related to folic acid metabolism: methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), solute carrier family 19, member 1 (SLC19A1 G80A), methionine synthase (MTR A2576  ...[more]

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