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Lipoprotein lipase gene mutations and the genetic susceptibility of preeclampsia

Title
Lipoprotein lipase gene mutations and the genetic susceptibility of preeclampsia
Authors
Kim, YJWilliamson, RAChen, KSmith, JLMurray, JCMerrill, DC
Ewha Authors
김영주
SCOPUS Author ID
김영주scopus
Issue Date
2001
Journal Title
HYPERTENSION
ISSN
0194-911XJCR Link
Citation
vol. 38, no. 5, pp. 992 - 996
Keywords
preeclampsialipoprotein lipasemutationsgenetic susceptibility
Publisher
LIPPINCOTT WILLIAMS & WILKINS
Indexed
SCI; SCIE; SCOPUS WOS
Abstract
In the pathogenesis of preeclampsia, endothelial cell activation or dysfunction is a central theme, and marked dyslipidemia may contribute to endothelial cell dysfunction. The objective of this study was to evaluate the association between preeclampsia and mutations within the lipoprotein lipase (LPL) gene. DNA was extracted from whole blood or cheek swabs of 250 preeclamptic patients, 265 control subjects, and 106 offspring of preeclamptic patients (all white). Control subjects were women who had undergone greater than or equal to2 term pregnancies unaffected by preeclampsia. All samples were genotyped for 3 LPL polymorphisms with the use of polymerase chain reaction of known allelic variants. The 3 mutations studied were the following: (1) Asp9Asn substitution in exon 2, (2) T-to-G substitution at position -93 of the proximal promotor region (-93T/G), and (3) Asn291Ser substitution in exon 6. Results were analyzed with an chi (2) contingency table. The prevalences of the Asp9Asn mutation, -93T/G promotor mutation, and Asn291Ser mutation were not significantly different among the preeclamptic patients and control subjects (Asp9Asn: patients, 2.8%; control subjects, 4.0%, -93T/G: patients, 4.5%; control subjects, 5.5%; Asn291Ser: patients, 4.0%; control subject, 3.0%). In addition, there was no difference in the frequency of any of the mutations in the offspring of preeclamptic women compared with that observed in the control population. Between a small group of patients with nulliparous HELLP syndrome (a variant of severe preeclampsia: hemolysis, elevated liver enzyme, low platelets) patients (n=12) and control subjects, there was a significant difference in the prevalence of the Asn291Ser mutation (16.7% versus 3.0%, P = 0.01). In this large white population, the Asp9Asn mutation. - 93T/G promotor mutation, and Asn291Ser mutation were not associated with an increased risk for preeclampsia. In a small subgroup of patients, the Asn291Ser mutation was associated with an increased risk for nulliparous HELLP syndrome.
DOI
10.1161/hy1101.093105
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의학전문대학원 > 의학과 > Journal papers
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