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- W1971455894 abstract "The reduced folate carrier (RFCI) is essential for folate transport into cells. Low folate is an important cause of neural tube defects (NTDs), and a single-nucleotide polymorphism (H27R) (80G→A) in the RFCI gene has been reported to be a NTD risk factor. We investigated H27R and a 61bp tandem repeat polymorphism as potential risk factors for NTDs, using a large homogeneous Irish population by case/control comparison, log-linear analysis, and transmission disequilibrium testing. No association was found between NTDs and H27R in mothers [p = 0.23, odds ratio (OR) 0.87, 95% confidence interval (CI) 0.69–1.09], fathers (p = 0.11, OR 0.83, 95% CI 0.66–1.04), or cases (p = 0.36, OR 0.9, 95% CI 0.72–1.12) when compared to controls or through log-linear modeling for dominant or recessive effects or with the transmission disequilibrium test for preferential allele transmission. Using log-linear models, a significant protective case effect was seen for the 61 bp polymorphism (p = 0.0039, OR 0.21, 95% CI 0.05–0.85). When analyzed by genotype, individuals homozygous for a single copy of the 61 bp sequence were underrepresented in cases as compared to controls, although these results did not reach statistical significance (p = 0.081, OR 0.5, 95% CI 0.23–1.09, goodness of fit p = 0.42). We compared the frequencies of H27R and the 61 bp polymorphism in African-Americans and American-Caucasians. The frequencies of H27R polymorphism differed significantly between the two populations (p = 0.0001). This large study does not confirm previous reports that H27R is a risk factor for NTDs. The previously unstudied 61 bp tandem repeat, however, has a possible protective NTD effect in our Irish population. This requires confirmation in other studies." @default.
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- W1971455894 date "2006-04-01" @default.
- W1971455894 modified "2023-10-07" @default.
- W1971455894 title "Reduced folate carrier polymorphisms and neural tube defect risk" @default.
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- W1971455894 doi "https://doi.org/10.1016/j.ymgme.2005.09.024" @default.
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