No association between endothelin-1 gene polymorphisms and preeclampsia in Korean population.
- Author:
Shin Young KIM
1
;
So Yeon PARK
;
Ji Hyae LIM
;
Jae Hyug YANG
;
Moon Young KIM
;
Hyun Young PARK
;
Kwang Soo LEE
;
Hyun Mee RYU
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:
Endothelin-1;
Single-nucleotide polymorphism;
Preeclampsia
- MeSH:
Endothelin-1;
Female;
Gene Frequency;
Genetic Predisposition to Disease;
Genotype;
Haplotypes;
Humans;
Logistic Models;
Perinatal Mortality;
Polymorphism, Single Nucleotide;
Pre-Eclampsia;
Pregnancy;
Vasoconstriction
- From:Journal of Genetic Medicine
2008;5(1):34-40
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: Preeclampsia is a major cause of maternal and perinatal mortality and morbidity and is considered to be a multifactorial disorder involving a genetic predisposition and environmental factors. Endothelin-1 (ET-1) is a potent vasoconstrictor peptide, and alterations in the ET-1 system are thought to play a role in triggering the vasoconstriction seen with preeclampsia. The aim of this study was to examine the frequency of the 4 common single-nucleotide polymorphisms (SNPs) (c.1370T>G, c.137_139delinsA, c.3539+2T>C, and c.5665G>T) of the ET-1 gene in normotensive and preeclamptic pregnancies and to investigate whether these SNPs are associated with preeclampsia in pregnant Korean women. METHODS: We analyzed blood samples from 206 preeclamptic and 216 normotensive pregnancies using a commercially available SNapShot kit and an ABI Prism 3100 Genetic analyzer. RESULTS: There were no significant differences in genotype or allele frequencies of the 4 SNPs in the ET-1 gene between preeclamptic and normotensive pregnancies. The respective frequencies of the 3 haplotypes (TDTG, GDCT, and TICT; >10% haplotype frequency) were 61%, 13% and 13%, respectively, in preeclampsic pregnancies and 62%, 14% and 12%, respectively, in normotensive pregnancies. The frequencies of these haplotypes were similar for both groups. Using multiple logistic regression analysis, we did not observe an increase in the risk of preeclampsia for the 4 SNPs of the ET-1 gene under either a recessive or dominant model. CONCLUSION: This study suggests that the 4 SNPs of the ET-1 gene are not associated with an increased risk for preeclampsia in pregnant Korean women.