A novel stroke locus identified in a northern Sweden pedigree: linkage to chromosome 9q31-33

Neurology. 2009 Nov 24;73(21):1767-73. doi: 10.1212/WNL.0b013e3181c34b1d.

Abstract

Objectives: The population of northern Sweden is characterized by reduced genetic diversity and a high incidence of stroke. We sought to reduce genetic variation further, using genealogic analysis in a set of nuclear families affected by stroke, and we subsequently performed a genome-wide scan to identify novel stroke susceptibility loci.

Methods: Through genealogy, 7 nuclear families with a common ancestor, connected over 8 generations, were identified. A genome-wide scan using 449 microsatellite markers was performed with subsequent haplotype analyses.

Results: A maximum allele-sharing lod score of 4.81 on chromosome 9q31-q33 was detected. Haplotype analysis identified a common 2.2-megabase interval in the chromosomal region in 4 of the nuclear families, where an overrepresentation of intracerebral hemorrhage was observed.

Conclusions: We have identified a novel susceptibility locus for stroke. Haplotype analysis suggests that a shared genetic factor is of particular importance for intracerebral hemorrhage.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study / methods
  • Haplotypes
  • Humans
  • Lod Score
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Pedigree*
  • Stroke / diagnostic imaging*
  • Stroke / genetics*
  • Sweden
  • Tomography, X-Ray Computed / methods