title: OP006. A preeclampsia genome-wide linkage scan in norwegian families.
abstract: BACKGROUND
  Several maternal susceptibility loci for preeclampsia (PE) have been discovered amongst Icelandic, Australian/New Zealand, Dutch and Finnish family cohorts, implicating locus heterogeneity. Through candidate gene studies, allele-specific heterogeneity in different populations is also evident. It is therefore likely that numerous population specific PE susceptibility variants exist, differing in their effect size. Despite on-going efforts to identify susceptibility genes for PE, the causal genetic variants still remain obscure.
  
  
  OBJECTIVE
  The aim of this study is to interrogate the genetic architecture of PE susceptibility by performing a genome-wide linkage scan in a novel familial cohort from Norway.
  
  
  METHODS
  A total of 480 DNA samples from The Norwegian PE Family Biobank were genotyped at Genomic Core Facility at NTNU. Genome-wide genotyping was performed with the Infinium HumanExome BeadChip (>240,000 markers) (Illumina, USA) that delivers focused coverage of exonic regions of the human genome.
  
  
  RESULTS
  A total of 137 families are represented with 222 women with a valid PE diagnosis (SBP⩾140mmHg DBP⩾90mmHg, ⩾2 measurements at least 4h apart with documented proteinuria at ⩾2 occasions occurring after 20weeks of pregnancy), 44 with self-reported PE and 72 women with a healthy pregnancy. The genotyping has just recently been completed with an average call rate of 99.96%. Data and statistical analysis is now underway using MERLIN, R and SOLAR. A description of the Norwegian PE familial cohort plus preliminary results will be presented at the Congress.
  
  
  CONCLUSIONS
  To our knowledge this is the first SNP-based genome-wide linkage study on PE, and the first performed in a novel Norwegian PE family cohort. By using an approach focusing on functionally relevant markers we anticipate the identification of susceptibility loci that are of substantial importance for disease development.
authors.forename: Linda Tømmerdal
authors.initials: LT
authors.lastname: Roten
authors.forename: Matthew P
authors.initials: MP
authors.lastname: Johnson
authors.forename: Liv Cecilie V
authors.initials: LC
authors.lastname: Thompsen
authors.forename: Astrid S
authors.initials: AS
authors.lastname: Gundersen
authors.forename: Per
authors.initials: P
authors.lastname: Solberg
authors.forename: Kjersti
authors.initials: K
authors.lastname: Tollaksen
authors.forename: Ingvill
authors.initials: I
authors.lastname: Lyslo
authors.forename: Christian
authors.initials: C
authors.lastname: Tappert
authors.forename: Maria Lisa
authors.initials: ML
authors.lastname: Odland
authors.forename: Kristin M
authors.initials: KM
authors.lastname: Strand
authors.forename: Mona H
authors.initials: MH
authors.lastname: Fenstad
authors.forename: Finn
authors.initials: F
authors.lastname: Drabløs
authors.forename: Frank
authors.initials: F
authors.lastname: Skorpen
authors.forename: Eric K
authors.initials: EK
authors.lastname: Moses
authors.forename: Rigmor
authors.initials: R
authors.lastname: Austgulen
authors.forename: Line
authors.initials: L
authors.lastname: Bjørge