Triglyceride level modifying functional variants of GALTN2 and MLXIPL in patients with ischaemic stroke

Eur J Neurol. 2010 Aug;17(8):1033-9. doi: 10.1111/j.1468-1331.2010.02957.x. Epub 2010 Feb 10.


Background: Recent genome-wide studies identified several genetic variants associated with blood lipid level alterations. Because affected lipid metabolism can confer risk to the development of ischaemic stroke, we studied three polymorphisms reportedly associated with triglyceride-level changes, rs17145738 and rs3812316 of the MLXIPL locus, and rs4846914 variant of GALNT2 gene in biobanked samples of patients with stroke. This pool of samples was previously investigated for haplotype tagging minor alleles of apolipoprotein A5 gene (T-1131C, T1259C, IVS3+G476A and C56G), and an association was found between the minor allele carriage and the triglyceride levels, and also these variants were found to confer risk to the development of stroke.

Methods: Here, a total of 467 patients with stroke, stratified as large vessel, small vessel and mixed stroke groups, and 156 control subjects were genotyped using PCR-RFLP methods.

Results: In the current study, we could not verify association of the variants analyzed either with triglyceride and total cholesterol levels or with the risk of ischaemic stroke susceptibility.

Conclusions: The data presented here revealed differentiated risk nature of the triglyceride level modifying natural gene variants.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / metabolism*
  • Brain Ischemia / genetics
  • Brain Ischemia / metabolism*
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • N-Acetylgalactosaminyltransferases / genetics
  • N-Acetylgalactosaminyltransferases / metabolism*
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Polypeptide N-acetylgalactosaminyltransferase
  • Statistics, Nonparametric
  • Stroke / genetics
  • Stroke / metabolism*
  • Triglycerides / blood*


  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • MLXIPL protein, human
  • Triglycerides
  • N-Acetylgalactosaminyltransferases