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Clinical and Applied Thrombosis/Hemostasis
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The Homozygous Leu Variant of the Factor XIII Val34Leu Polymorphism as a Risk Factor for the Manifestation of Thrombotic Microangiopathies

Christoph Sucker, MD

Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Düsseldorf, Germany, sucker{at}med.uni-duesseldorf.de

Firuseh Farokhzad, MD

Department of Nephrology Heinrich Heine University Medical Center, Düsseldorf, Germany

Christine Kurschat, MD

Department of Nephrology Heinrich Heine University Medical Center, Düsseldorf, Germany

Bernd Grabensee, MD, PhD

Department of Nephrology Heinrich Heine University Medical Center, Düsseldorf, Germany

Rudiger E. Scharf, MD, PhD

Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Düsseldorf, Germany

Rainer B. Zotz, MD

Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Düsseldorf, Germany

Beate Maruhn-Debowski

Department of Hemostasis and Transfusion Medicine, Heinrich Heine University Medical Center, Düsseldorf, Germany

Gerd R. Hetzel, MD

Department of Nephrology Heinrich Heine University Medical Center, Düsseldorf, Germany

The 34 Leu (100T) variant of the factor XIII Val34Leu (G100T-) polymorphism slows down fibrinolysis and has been proposed as a thrombotic risk factor. In this pilot study, we enrolled 40 patients (mean age ± SD = 38 ± 11 years) and 728 controls to assess the role of this genetic variant for the manifestation of thrombotic microangiopathies. From the genotype prevalences, an increased manifestation risk for carriers of the TT genotype (homozygous Leu variant) of the factor XIII Val34Leu (G100T-) polymorphism was calculated (odds ratio [OR] = 2.44; 95% confidence interval [CI] = 0.8-7.6; P = .11). This association was statistically significant for patients with thrombotic thrombocytopenic purpura—hemolytic-uremic syndrome (TTP-HUS) (OR = 6.6; 95% CI = 1.7-25.9; P = .006). Our data suggest a role of the homozygous Leu variant of the factor XIII Val34Leu polymorphism in the manifestation of thrombotic microangiopathies. Decreased fibrinolysis in the presence of this genetic variant provides a plausible explanation for this association.

Key Words: thrombotic microangiopathies • factor XIII Val34Leu polymorphism • fibrinolysis

This version was published on April 1, 2009

Clinical and Applied Thrombosis/Hemostasis, Vol. 15, No. 2, 197-200 (2009)
DOI: 10.1177/1076029607304723


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