Publication Date:
2004-11-16
Description:
Recently, our group reported a strong association of the most frequent single nucleotide polymorphisms (SNPs) in the antibacterial defense gene NOD2/CARD15 with GvHD and outcome following allogeneic stem cell transplantation (SCT). We now extended our analysis in HLA-identical sibling transplants by adding a second cohort of 133 donor /recipient pairs collected in 3 centers to our previously analyzed group of 78 consecutive transplants. PCR analysis for major SNPs 8,12, and 13 of the NOD2/CARD15 gene was performed in DNA samples from recipients and their donors after receiving informed consent, and occurrence or absence of mutations was correlated with major outcome variables. Heterozygous NOD2/CARD15 mutations were observed in 54/211 (25,6%), whereas only 1 patient and 2 donors revealed homozygous mutations. Analysis of the second cohort confirmed the significant association of occurrence of any NOD2/CARD15 mutation with treatment related mortality (TRM) and graft-versus-host disease (GvHD): Incidence of severe GvHD rose from 13% (cohort1 + 2) to 48% (cohort1, p
Print ISSN:
0006-4971
Electronic ISSN:
1528-0020
Topics:
Biology
,
Medicine
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