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Updated: May 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Cystathionine beta-synthase 844ins68 polymorphism is unrelated to susceptibility to neural tube defects
Shengrong Ouyang1, Zhuo Liu1, Yuanyuan Li1
1Dept. of Biochemistry, Capital Institute of Pediatrics, Beijing 100020, China.
Objective:
Cystathionine beta-synthase (CBS) 844ins68 polymorphism has been implicated in the development of neural tube defects (NTDs). However, the results of different studies are inconsistent. Thus, we conducted a meta-analysis to further investigate this association.
Methods:
Published studies were retrieved from PubMed, Embase, China National Knowledge Infrastructure, and Wanfang Data. Studies that evaluated the association between CBS 844ins68 polymorphism and NTD risk among mothers, children, or fathers were included. The pooled odds ratios with 95% confidence interval were calculated using a fixed effects model or a random effects model.
Results:
A total of eight studies on mothers (641 cases and 1145 controls), eight studies on children (852 cases and 1912 controls), and five studies (263 cases and 1562 controls) on fathers were included. The meta-analysis revealed no significant association between CBS 844ins68 polymorphism and NTD risk among mothers, children, and fathers under either genetic model.
Conclusion:
The present meta-analysis indicates that CBS 844ins68 polymorphism is not a good predictor of risk for NTDs.
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