Folic acid

Association between SNPs in genes involved in folate metabolism and preterm birth risk

B. J. Wang, Liu, M. J., Wang, Y., Dai, J. R., Tao, J. Y., Wang, S. N., Zhong, N., and Chen, Y., “Association between SNPs in genes involved in folate metabolism and preterm birth risk”, vol. 14, pp. 850-859, 2015.

We investigated the association between 12 single nucleotide polymorphisms (SNPs) in 11 genes involved in folate metabolic and preterm birth. A subset of SNPs selected from 11 genes/loci involved in the folic acid metabolism pathway were subjected to SNaPshot analysis in a case-control study.

Bioinformatic analysis of endothelial progenitor cells exposed to folic acid in type 1 diabetes mellitus

D. N. Fang, He, X. D., Li, X. H., Jia, H., Li, P. Y., Lu, Q., Quan, Z., and Wang, Q. L., “Bioinformatic analysis of endothelial progenitor cells exposed to folic acid in type 1 diabetes mellitus”, vol. 13, pp. 1-10, 2014.

We investigated the effects of type 1 diabetes mellitus (T1DM) on endothelial progenitor cells (EPCs) at the molecular level and assessed the therapeutic potential of folic acid (FA) in DM. We downloaded the gene expression profile of the EPCs from T1DM patients before and after treatment with FA and from healthy controls. We identified the differentially expressed genes (DEGs) in the EPCs from T1DM patients before and after a four-week period of FA treatment and compared them with those obtained from the healthy subjects by using limma package in R language.

Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study

N. M. Cadenas-Benitez, Yanes-Sosa, F., Gonzalez-Meneses, A., Cerrillos, L., Acosta, D., Praena-Fernandez, J. M., Neth, O., I. de Terreros, G., and Ybot-González, P., “Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study”, vol. 13, pp. 2200-2207, 2014.

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital.

Registries of cases with neural tube defects in Denizli, Turkey, 2004-2010

A. G. Tomatir, B. Vural, K., Acikbas, I., and Akdag, B., “Registries of cases with neural tube defects in Denizli, Turkey, 2004-2010”, vol. 13, pp. 8537-8543, 2014.

Neural tube defects (NTD) are among the most common congenital abnormalities, with an incidence of 3 per 1000 live births in Turkey. In a study of major congenital abnormalities in the city of Denizli, Turkey, abnormalities of the central nervous system are particularly common (31.1%). The objective of this study was to develop a registry of cases with NTDs in Denizli. Cases that had been diagnosed with NTD between January 2004 and September 2010 in State Hospitals of Central Denizli were retrospectively examined. The diagnoses were established based on the ICD-10 criteria.

Registries of cleft lip/palate cases between 2004 and 2010 in Denizli, Turkey

A. G. Tomatir, Acikbas, I., Akdag, B., and Köksal, A., “Registries of cleft lip/palate cases between 2004 and 2010 in Denizli, Turkey”, vol. 12, pp. 4286-4291, 2013.

Oral clefts are one of the most common birth defects in humans. However, few population-based studies of these defects have been carried out in Turkey. Our objective was to determine the registries of cases of cleft lip and palate. All cases of cleft lip and palate referred to central state hospitals in Denizli between January 2000 and May 2010 were investigated retrospectively. Anomalies were determined and classified according to the ICD-10 coding system.

A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population

W. Zeng, Liu, L., Tong, Y., Liu, H. M., Dai, L., and Mao, M., “A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population”, vol. 10, pp. 2597-2605, 2011.

Congenital heart defects (CHDs) are the most common birth defects; genes involved in homocysteine/folate metabolism may play important roles in CHDs. Methionine synthase reductase (MTRR) is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine. We investigated whether two polymorphisms (A66G and C524T) of the MTRR gene are associated with CHDs. A total of 599 children with CHDs and 672 healthy children were included; the polymorphisms were detected by PCR and RFLP analysis.

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