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Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese population by Lijun Pei; Huiping Zhu; Aiguo Ren; Zhiwen Li; Ling Hao; Richard H. Finnell; Zhu Li is a Medicine article available to read on EtoBox.

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## Abstract ## BACKGROUND There is a considerable body of data demonstrating that periconceptional supplementation of folic acid can prevent a significant proportion of neural tube defects (NTDs). At present, the mechanism by which folic acid exerts its beneficial effect remains unknown. Folate transporter genes, including the reduced folate carrier gene (__RFC1__), have been proposed as NTD risk factors. ## METHODS The study population included 104 nuclear families with NTDs and 100 nonmalformed control families. We investigated the possible association between a common __RFC1__ polymorphism (A80G) and NTD risk among offspring, as well as potential gene‐environment interactions between the infant __RFC1__ genotype and maternal periconceptional use of folic acid through a population‐based case‐control study. ## RESULTS We observed that the infants of the GG genotype were associated with a 2.56‐fold increased risk of NTDs when compared to the AA genotype (odds ratio [OR], 2.56; 95% confidence interval [CI], 1.04–6.36) in our study population. Among mothers who did not utilize folic acid supplements, the risk for having a child with an NTD was 3.30 (95% CI, 1.15–9.65) for offspring w

Who reads Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese population?

Author

Lijun Pei; Huiping Zhu; Aiguo Ren; Zhiwen Li; Ling Hao; Richard H. Finnell; Zhu Li

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 1542-0752)

Published

2005

Language

EN

Field

Medicine (Health Sciences)