Short Communication

Genes and Immunity (2007) 8, 439–443; doi:10.1038/sj.gene.6364401; published online 17 May 2007

Genomic variations within DEFB1 are associated with the susceptibility to and the fatal outcome of severe sepsis in Chinese Han population

Q-X Chen1, C Lv1, L-X Huang1, B-L Cheng1, G-H Xie1, S-J Wu1 and X-M Fang1

1Department of Anesthesiology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China

Correspondence: Dr X-M Fang, Department of Anesthesiology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Qingchun Road 79, Hangzhou 310003, China. E-mail: xiangming_fang@163.com

Received 31 January 2007; Revised 9 April 2007; Accepted 16 April 2007; Published online 17 May 2007.

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Abstract

Sepsis is a systemic inflammatory response syndrome to infection. Human beta-defensin 1 (DEFB1) is a multifunctional mediator in infection and inflammation, which has been largely explored in ex vivo studies. The present case–control study was designed to investigate whether DEFB1 genomic variations are associated with the susceptibility to and the outcome of severe sepsis in 211 patients with severe sepsis and 157 ethnic-matched healthy controls. After correcting for multiple testing, the -44G/C was the only polymorphism found to show significant associations with both the susceptibility to and the fatal outcome of severe sepsis (P=0.0049, odd ratio (OR) 1.971 and P=0.002, OR 2.406, respectively). Haplotype -20A/-44C/-52G showed a protective role against severe sepsis (P=0.0066, OR 0.6751), whereas haplotype -20G/-44G/-52G served as a risk factor for the fatal outcome of severe sepsis (P=0.0052, OR 2.427). These findings provide further evidence that beta-defensin 1 may play a role in the pathogenesis of severe sepsis.

Keywords:

human beta-defensin 1, DEFB1, SNP, haplotype, severe sepsis, association study

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