The Y153H Variant of the STOX1 Gene in Korean Patients with Preeclampsia.
- Author:
Shin Young KIM
1
;
So Yeon PARK
;
Ji Hyae LIM
;
Jae Hyug YANG
;
Moon Young KIM
;
Hyun Young PARK
;
Kwang Soo LEE
;
Young Ju KIM
Author Information
1. Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea. hmryu@yahoo.com
- Publication Type:Original Article
- Keywords:
Preeclampsia;
STOX1;
Y153H variation
- MeSH:
Alleles;
DNA;
Female;
Gene Frequency;
Genotype;
Humans;
Logistic Models;
Pre-Eclampsia;
Pregnancy;
Pregnant Women;
Sample Size
- From:Journal of Genetic Medicine
2009;6(1):56-61
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.
