Associazione tra i polimorfismi dei geni NOD2/CARD15, TLR-4, IL23R e GVHD, infezioni e mortalità precoce nel trapianto allogenico di cellule staminali ematopoietiche nella popolazione pediatrica sarda talassemica, ampliamento del progetto con lo studio molecolare di altri geni candidati

摘要

Recently single nucleotide polymorphisms (SNPs) of the genes NOD2-CARD15, IL23-R and TLR-4 have been showed to influence the risk for acute GvHD in patients who underwent to allogeneic hematopoietic stem cells (HSCs) transplantation.udTo investigate whether these genes play a role in the pathogenesis of GvHD also in the Sardinian population, 8 SNPs four for NOD2, two for TLR4 and two for IL23R in 86 recipients, their coupled donors and in 150 healthy Sardinians individualswere genotyped and the SNPs frequencies compared.udThe SNP rs2066842 of NOD2 gene was significantly increased in the group of patients who did not develop acute GvHD(p = 0.002).udOur data, if confirmed in GvHD patients from other population, could suggest the inclusion of the non-HLA NOD2/CARD15 genes genotyping in the attribution of the immunological donor/recipient pre-transplant score.