{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T12:33:34Z","timestamp":1773405214437,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,2,25]],"date-time":"2014-02-25T00:00:00Z","timestamp":1393286400000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2014,2]]},"abstract":"Abstract<\/jats:title>We analyzed the role of maternal C677T<\/jats:styled-content> mutation in methylenetetrahydrofolate reductase (MTHFR<\/jats:styled-content>) gene<\/jats:italic> on spina bifida development in newborns. A total of 115 mothers who had given birth to a spina bifida child (SB<\/jats:styled-content> mothers) gave 10\u2009mL of blood together with written informed consent. The genotype distribution of C677T<\/jats:styled-content> mutation was assessed and compared with that of the 4517 control individuals. The prevalence of the homozygous genotype (TT<\/jats:styled-content>) among SB<\/jats:styled-content> mothers was not significantly different from that among the controls (odds ratio [OR<\/jats:styled-content>]<\/jats:styled-content>\u2009=\u20090.65; 95% confidence interval [CI<\/jats:styled-content>]<\/jats:styled-content>\u2009=\u20090.31\u20131.25; P<\/jats:styled-content><\/jats:italic>\u2009=\u20090.182), suggesting that MTHFR<\/jats:styled-content> 677TT<\/jats:italic> genotype in J<\/jats:styled-content>apan is not associated with spina bifida development in newborns. The T<\/jats:styled-content><\/jats:italic> allele frequency was not increased in SB<\/jats:styled-content> mothers (34.8%) as compared to that of the control individuals (38.2%). Further, the internationally reported association between the two groups was found to be similar in all 15 countries studied except the N<\/jats:styled-content>etherlands, where the TT<\/jats:styled-content> genotype was found to be a genetic risk factor for spina bifida. For the prevention of affected pregnancy every woman planning to conceive has to take folic acid supplements 400\u2009\u03bcg a day and the government is asked to take action in implementing food fortification with folic acid in the near future. In conclusion, it is not necessary for J<\/jats:styled-content>apanese women to undergo genetic screening C677T<\/jats:styled-content> mutation of the MTHFR<\/jats:styled-content><\/jats:italic> gene as a predictive marker for spina bifida prior to pregnancy, because the TT<\/jats:styled-content> genotype is not a risk factor for having an affected infant.<\/jats:p>","DOI":"10.1111\/cga.12026","type":"journal-article","created":{"date-parts":[[2013,6,21]],"date-time":"2013-06-21T08:36:40Z","timestamp":1371803800000},"page":"30-34","source":"Crossref","is-referenced-by-count":6,"title":["C677T<\/scp> mutation in methylenetetrahydrofolate reductase gene and neural tube defects: Should J<\/scp>apanese women undergo gene screening before pregnancy?"],"prefix":"10.1111","volume":"54","author":[{"given":"Atsuo","family":"Kondo","sequence":"first","affiliation":[{"name":"Department of Urology Tsushima Rehabilitation Hospital Tsushima 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