J Genet Med.  2009 Jun;6(1):56-61.

The Y153H Variant of the STOX1 Gene in Korean Patients with Preeclampsia

  • 1Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea. hmryu@yahoo.com
  • 2Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.
  • 3Division of Cardiovascular Disease, Center for Biomedical Sciences, National Institute of Health Seoul, Korea.
  • 4Department of Obstetrics and Gynecology, Ewha Medical Research Institue, College of Medicine, Ewha Womans' University, Seoul, Korea.


Preeclampsia is a multifactorial disorder with genetic and environmental components. Recently, the STOX1 gene, identified as a candidate gene for preeclampsia in Dutch women, has been shown to be placentally expressed and subject to imprinting with preferential transmission of the maternal allele. The purpose
of this study is to investigate whether there is an association between the STOX1 Y153H variation and preeclampsia in Korean pregnant women.
This study involved 202 preeclamptic and 204 healthy pregnant women who were genotyped for the Y153H variant of the STOX1 gene using a commercially available SNapShot assay kit and an ABI Prism 3730 DNA Analyzer.
There were no significant differences in genotype frequencies of the Y153H variant of the STOX1 gene between preeclamptic patients and normal controls (P>0.05). The H allele frequency of the STOX1 Y153H variation was similar in patients with preeclampsia (87.1%) and in normal controls (86.5%). In addition, multiple logistic regression analysis showed that the YH, HH, and YH/HH genotypes were not associated with an increased risk of preeclampsia when compared to the YY genotype.
This is the first study to characterize the Y153H variant of the STOX1 gene in Korean patients with preeclampsia. We found no differences in the genotype and allele frequencies between preeclamptic and normal pregnancies. Although limited by a relatively small sample size, our study suggests that the STOX1 Y153H variation is not associated with the development of preeclampsia in Korean pregnant women.


Preeclampsia; STOX1; Y153H variation
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