Association between NFKB1 -94 insertion/deletion ATTG polymorphism and risk of intracranial aneurysm

Genet Test Mol Biomarkers. 2013 Aug;17(8):620-4. doi: 10.1089/gtmb.2013.0110. Epub 2013 May 15.

Abstract

Objective: Growing evidence indicates that vascular inflammation is a common phenomenon in the pathogenesis of intracranial aneurysms (IAs). Nuclear factor kappa B is a key molecule that is involved in the vascular inflammation of IA. We hypothesized that an insertion/deletion (ins/del) ATTG polymorphism located between two putative key promoter regulatory elements in the NFKB1 gene may be related to the risk of IA.

Methods: We performed a case-control study, including 164 patients with IA and 525 healthy controls in a Chinese population using a polymerase chain reaction-polyacrylamide gel electrophoresis assay.

Results: A significantly decreased risk of IA was observed in the ATTG1/ATTG2 and ATTG2/ATTG2 genotypes compared with the ATTG1/ATTG1 genotype (ATTG1/ATTG2 vs. ATTG1/ATTG1: odds ratio [OR]=0.58, 95% confidence interval [95% CI]=0.39-0.87, p=0.007; ATTG2/ATTG2 vs. ATTG1/ATTG1: OR=0.12, 95% CI=0.06-0.23, p<0.001), and also the ATTG2 allele (ATTG2 vs. ATTG1: OR=0.41, 95% CI=0.32-0.54, p<0.001).

Conclusion: These findings suggest that the NFKB1 -94ins/del ATTG polymorphism may contribute to the risk of IA.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence / genetics*
  • Case-Control Studies
  • Female
  • Humans
  • INDEL Mutation*
  • Intracranial Aneurysm / genetics*
  • Male
  • Middle Aged
  • NF-kappa B p50 Subunit / genetics*
  • Polymorphism, Genetic*
  • Response Elements / genetics*
  • Risk Factors

Substances

  • NF-kappa B p50 Subunit
  • NFKB1 protein, human