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Blood, 1 September 2008, Vol. 112, No. 5, pp. 2156-2159.
Prepublished online as a Blood First Edition Paper on June 10, 2008; DOI 10.1182/blood-2008-02-139766.


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Submitted February 15, 2008
Accepted May 25, 2008

A single nucleotide polymorphism at chromosome 2q21.3 (LCT-13910C>T) associates with clinical outcome after allogeneic hematopoetic stem cell transplantation

Hanns Hauser*, Otto Zach, Otto Krieger, Hedwig Kasparu, Josef Koenig, Michael Girschikofsky, Rainer Oberbauer, and Dieter Lutz

1st Department of Internal Medicine, Elisabethinen Hospital Linz, Linz, Austria
3rd Department of Internal Medicine, Elisabethinen Hospital Linz, Linz, Austria

* Corresponding author; email: hanns.hauser{at}elisabethinen.or.at.

A single nucleotide polymorphism (SNP) responsible for lactase persistence (LCT-13190C>T) changes intestinal microflora. Considering the influence of bacterial microflora on various immune effects we tested DNA from 111 recipients/donors and analyzed whether this SNP interferes with survival and the incidence of acute graft-vs.-host disease (aGvHD) after allogeneic hematopoetic stem cell tranplantations (HSCT). Median overall survival (OS) was significantly longer when donors had a CC genotype (not reached after 133 vs. 11.1 months, P = .0039). Multivariate analysis identified a donor T allele (HR 2.63, 95% CI 1.29-5.33, P = .0075) as independent risk factor for death. Surprisingly, recipient genotypes did not influence outcome and there were no differences regarding aGvHD. Transplant related mortality (TRM), relapse rate and pneumonia were significantly less frequent in patients with CC donors. These findings add to the growing list of non-HLA polymorphisms with impact on outcome after allogeneic HSCT.


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