title: ADAMTS13 gene variants and function in women with preeclampsia: a population- based nested case- control study from the HUNT Study.
abstract: BACKGROUND
  Known genetic variants with reference to preeclampsia only explain a proportion of the heritable contribution to the development of this condition. The association between preeclampsia and the risk of cardiovascular disease later in life has encouraged the study of genetic variants important in thrombosis and vascular inflammation also in relation to preeclampsia. The von Willebrand factor-cleaving protease, ADAMTS13, plays an important role in micro vascular thrombosis, and partial deficiencies of this enzyme have been observed in association with cardiovascular disease and preeclampsia. However, it remains unknown whether decreased ADAMTS13 levels represent a cause or an effect of the event in placental and cardiovascular disease.
  
  
  METHODS
  We studied the distribution of three functional genetic variants of ADAMTS13, c.1852C>G (rs28647808), c.4143_4144dupA (rs387906343), and c.3178C>T (rs142572218) in women with preeclampsia and their controls in a nested case-control study from the second Nord-Trøndelag Health Study (HUNT2). We also studied the association between ADAMTS13 activity and preeclampsia, in serum samples procured unrelated in time of the preeclamptic pregnancy.
  
  
  RESULTS
  No differences were observed in genotype, allele or haplotype frequencies of the different ADAMTS13 variants when comparing cases and controls, and no association to preeclampsia was found with lower levels of ADAMTS13 activity.
  
  
  CONCLUSIONS
  Our findings indicate that ADAMTS13 variants and ADAMTS13 activity do not contribute to an increased risk of preeclampsia in the general population.
authors.affiliation: Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway; Department of Haematology, St Olavs Hospital Trondheim University Hospital, Trondheim, Norway. Electronic address: anne-sophie.v.krogh@ntnu.no.
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: von Krogh
authors.affiliation: University Clinic of Haematology and Central Haematology Laboratory, Bern University Hospital Inselspital, University of Bern, Bern, Switzerland; Department of Clinical Research, University of Bern, Bern, Switzerland.
authors.forename: Johanna A
authors.initials: JA
authors.lastname: Kremer Hovinga
authors.affiliation: Department of Public Health, Norwegian University of Science and Technology, Trondheim, Norway.
authors.forename: Pål R
authors.initials: PR
authors.lastname: Romundstad
authors.affiliation: Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway; Central Norway Health Authority, Stjørdal, Norway.
authors.forename: Linda T
authors.initials: LT
authors.lastname: Roten
authors.affiliation: University Clinic of Haematology and Central Haematology Laboratory, Bern University Hospital Inselspital, University of Bern, Bern, Switzerland; Department of Clinical Research, University of Bern, Bern, Switzerland; Center for Thrombosis and Hemostasis, University Medical Center, Mainz, Germany.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Lämmle
authors.affiliation: Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway; Department of Haematology, St Olavs Hospital Trondheim University Hospital, Trondheim, Norway.
authors.forename: Anders
authors.initials: A
authors.lastname: Waage
authors.affiliation: Department of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway; Department of Haematology, St Olavs Hospital Trondheim University Hospital, Trondheim, Norway.
authors.forename: Petter
authors.initials: P
authors.lastname: Quist-Paulsen
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071120:ADAMTS13 Protein; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011247:Pregnancy
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
keywords: ADAMTS13; Case–control; Mutations; Preeclampsia; The HUNT study