The association of NOD2/CARD15 gene polymorphism with an increased risk of mortality in patients with AML after allogenic HSCT

Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment for certain individuals diagnosed with high risk acute myeloid leukemia (AML). Several recent studies have described a significant correlation between transplantation outcome and three single nucleotide polymorphisms (SNPs) in the NOD2/CARD15 gene. This study was conducted to evaluate the association of NOD2/CARD15 gene polymorphisms with the occurrence of mortality in AML patients who underwent HSCT. NOD2/CARD15 genotypes were analyzed by using PCR-SSP in 124 patients diagnosed with AML and their full match donors who underwent an allogenic HSCT; then, the association of NOD2/ CARD15 gene polymorphisms with the occurrence of mortality in AML patients and their donors was evaluated. The median time of follow up of survived recipients in the cohort was 40 months (28-77). Analysis was performed by using SPSS 11.5, the Kaplan-Meier method, and Long Rank test. Sci J Iran Blood Transfus Organ 2012; 9(3): 290-299 Mutation frequency of the NOD2/CARD15 gene was found in 27 pairs (21.8%). The estimated 3-year OS (Overal Survival) in wild type pairs was 74.7% (SE = 4.5) as compared with OS of 55.6% (SE = 9.6) in NOD2/CARD15 SNP pairs (P = 0.04). There was no significant difference between survival rate without a 3-year relapse in wild type patients (73.6%, SE = 4.5) and those with polymorphisms (61.7% SE = 10.3). This study showed that polymorphism in the NOD2/CARD15 gene has an effect on survival rate and transplantation outcome after HSCT.