Journal article
Lipoprotein lipase gene mutations and the genetic susceptibility of preeclampsia
Hypertension (Dallas, Tex. 1979), Vol.38(5), pp.992-996
2001
DOI: 10.1161/hy1101.093105
PMID: 11711487
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 ≥2 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 χ2 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.
Details
- Title: Subtitle
- Lipoprotein lipase gene mutations and the genetic susceptibility of preeclampsia
- Creators
- Young J KIM - Department of Obstetrics and Gynecology, Ewha Woman's University, Seoul, Korea, Republic ofRoger A WILLIAMSON - Department of Obstetrics and Gynecology, University of Iowa, Iowa City, United StatesK CHEN - Department of Obstetrics and Gynecology, Wake Forest University, Winston-Salem, NC, United StatesJennifer L SMITH - School of Medicine, Wake Forest University, Winston-Salem, NC, United StatesJeffrey C MURRAY - Department of Pediatrics, University of Iowa, Iowa City, United StatesDavid C MERRILL - Department of Obstetrics and Gynecology, Wake Forest University, Winston-Salem, NC, United States
- Resource Type
- Journal article
- Publication Details
- Hypertension (Dallas, Tex. 1979), Vol.38(5), pp.992-996
- DOI
- 10.1161/hy1101.093105
- PMID
- 11711487
- NLM abbreviation
- Hypertension
- ISSN
- 0194-911X
- eISSN
- 1524-4563
- Publisher
- Lippincott; Philadelphia, PA; Hagerstown, MD
- Language
- English
- Date published
- 2001
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Obstetrics and Gynecology; Dental Research
- Record Identifier
- 9984025676502771
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