title: Genetic polymorphisms of human β-defensins in patients with ischemic stroke.
abstract: OBJECTIVE
  Genetic predisposition of the inflammatory host response may affect the development of stroke. On the basis of the theory of infectious burden and risk of stroke, we considered it of interest to investigate the relevance of the single-nucleotide polymorphisms (SNPs) in the DEFB1 gene and the copy number variant (CNV) of the DEFB4 genes in ischemic stroke.
  
  
  RESULTS
  There were no significant differences in the genotype frequencies of the three SNPs of the DEFB1 gene between the patients with stroke (n = 312) and the healthy blood donors (n = 221). However, a higher frequency of a lower (<4) copy number of the DEFB4 gene was observed in the patients with ischemic stroke as compared with the healthy controls (40% vs 24%, respectively). Additionally, low plasma concentrations of hBD-2 (187 ± 20 pg/ml) were characteristic of the patients with fewer than four copy numbers relative to those with more than four copy numbers (385 ± 35 pg/ml).
  
  
  CONCLUSIONS
  The low copy number of the DEFB4 gene, involving a weakened antimicrobial defense of the host, might be important in the pathogenesis of stroke.
authors: Department of Medical Microbiology and Immunobiology, University of Szeged, Szeged, Hungary.
authors: Z
authors: Z
authors: Tiszlavicz
authors: F
authors: F
authors: Somogyvári
authors: Z
authors: Z
authors: Szolnoki
authors: L K
authors: LK
authors: Sztriha
authors: B
authors: B
authors: Németh
authors: L
authors: L
authors: Vécsei
authors: Y
authors: Y
authors: Mándi
mesh_terms: D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D020521:Stroke / Q000235:genetics*; D023083:beta-Defensins / Q000235:genetics*
chemical_list: C406407:DEFB1 protein, human; C106641:DEFB4A protein, human; D023083:beta-Defensins