The reduced folate carrier-1 (RFC1 696T>C) polymorphism is associated with spontaneously aborted embryos in Koreans

다국어 초록 (Multilingual Abstract)

The major cause of early spontaneous abortion is believed to be chromosomal abnormality. However, the genetic etiologies of spontaneous abortion are still unknown. A central feature of fetal development is widespread rapid cell division. Due to its role in DNA synthesis, the need for folate increases during periods of rapid fetal growth. Folate transport across cell membranes is mediated by reduced folate carrier-1 (RFC1).
Variants within SLC19A1 may influence folate and homocysteine concentrations. The aim of this study was to investigate the association of RFC1 mutations with spontaneous abortion in aborted embryos. We studied 115 spontaneously aborted embryos at <20 weeks of gestational age, 102 child controls, and 353 adult controls. The genotype frequencies of RFC1 polymorphisms, 80A>G and 696T>C, in spontaneously aborted embryos were measured. The RFC1 696T>C mutation was significantly increased in spontaneously aborted embryos compared to child controls. Further studies will be required to examine the functional significance of the RFC1 696T>C polymorphism.

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