Polymorphisms of cystathionine beta-synthase gene are associated with susceptibility to sepsis.

doi:10.1038/ejhg.2015.231

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Article

Polymorphisms of cystathionine beta-synthase gene are associated with susceptibility to sepsis.

European journal of human genetics : EJHG - 1 Jul 2016

Sponholz Christoph, Kramer Marcel, Schöneweck Franziska, Menzel Uwe, Inanloo Rahatloo Kolsoum, Giamarellos-Bourboulis Evangelos J, Papavassileiou Vassileios, Lymberopoulou Korina, Pavlaki Maria, Koutelidakis Ioannis, Perdios Ioannis, Scherag André, Bauer Michael, Platzer Matthias, Huse Klaus

Abstract excerpt

Sepsis is the systemic inflammatory host response to infection. Cystathionine beta-synthase (CBS)-dependent homocysteine (Hcy) pathway was demonstrated to affect disease severity and mortality in patients with severe sepsis/septic shock. Independent studies identified a single-nucleotide polymorphism (SNP, rs6586282, hg19 chr21:g.44478497C>T) in intron 14 of the CBS-coding gene (CBS) associated with Hcy plasma...

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PMID: 26508567
DOI: 10.1038/ejhg.2015.231
PMCID: PMC5070885

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