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Genetic polymorphisms of human β‐defensins in patients with ischemic stroke
Author(s) -
Tiszlavicz Z.,
Somogyvári F.,
Szolnoki Z.,
Sztriha L. K.,
Németh B.,
Vécsei L.,
Mándi Y.
Publication year - 2012
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2011.01613.x
Subject(s) - single nucleotide polymorphism , stroke (engine) , genotype , copy number variation , pathogenesis , gene , ischemic stroke , immunology , genetic predisposition , clinical significance , gene dosage , medicine , biology , genetics , bioinformatics , gene expression , ischemia , genome , mechanical engineering , engineering
Tiszlavicz Z, Somogyvári F, Szolnoki Z, Sztriha LK, Németh B, Vécsei L, Mándi Y. Genetic polymorphisms of human β‐defensins in patients with ischemic stroke.
Acta Neurol Scand: 2012: 126: 109–115.
© 2011 John Wiley & Sons A/S. Objectives and Methods – 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.