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(Hypertension. 2001;38:992.)
© 2001 American Heart Association, Inc.

Scientific Contributions

Lipoprotein Lipase Gene Mutations and the Genetic Susceptibility of Preeclampsia

Young J. Kim; Roger A. Williamson; K. Chen; Jennifer L. Smith; Jeffrey C. Murray; David C. Merrill

From the Department of Obstetrics and Gynecology, Ewha Woman’s University (Y.J.K.), Seoul, Korea; Department of Obstetrics and Gynecology (R.A.W.) and Department of Pediatrics (J.C.M.), University of Iowa, Iowa City; and Department of Obstetrics and Gynecology (K.C., D.C.M.) and School of Medicine (J.L.S.), Wake Forest University, Winston-Salem, NC.

Correspondence to David C. Merrill, MD, PhD, Department of Obstetrics and Gynecology, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC 27157. E-mail dmerrill{at}wfubmc.edu

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 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.

Key Words: preeclampsia • lipoprotein lipase • mutations • genetic susceptibility

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