Key result
Maternal MTHFR rs1801131 CC genotype linked to ~267% higher risk of offspring CHD.
Why the study?
Do genetic variants in folate metabolism pathways (MTHFR, MS, CBS) and environmental factors increase the risk of congenital heart disease in Chinese children?
Population
138 children with congenital heart disease and 207 normal children for controls, along with their mothers…
Comparison
Presence of single nucleotide polymorphisms in… vs Absence of the variant genotypes and absence of…
Design
Case-control, All the genotyping assays was performed without knowing the…
Authors
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Maternal folate and environmental factors were associated with offspring CHD risk; leaves open causal confirmation and practice implications pending prospective data.
Case-Control (n=714)
No
Do genetic variants in folate metabolism pathways (MTHFR, MS, CBS) and environmental factors increase the risk of congenital heart disease in Chinese children?
Odds Ratio: 3.67 (95% CI 1.12–12.05)
p-value: p=0.032
The MTHFR rs1801131 polymorphism and specific environmental factors are significantly associated with an increased risk of congenital heart disease in a Chinese population.
Shi et al. (2015) conducted a case-control in Congenital Heart Disease (n=714). MTHFR rs1801131 CC genotype vs. MTHFR rs1801131 AA and AC genotypes was evaluated on Offspring congenital heart disease risk (OR 3.67, 95% CI 1.12-12.05, p=0.032). Mothers with the MTHFR rs1801131 CC genotype had a 267% increased risk of giving birth to a child with congenital heart disease compared to those with AA and AC genotypes (OR 3.67).
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