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Variations in genes involved in regulation of the nuclear factor – κ B pathway and the risk of acute myeloid leukaemia
Author(s) -
Rybka J.,
Gębura K.,
Wróbel T.,
Wysoczańska B.,
Stefanko E.,
Kuliczkowski K.,
BoguniaKubik K.
Publication year - 2016
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12255
Subject(s) - single nucleotide polymorphism , allele , snp , biology , tlr9 , genotype , pathogenesis , immunology , genetics , gene , myeloid , cancer research , gene expression , dna methylation
Summary Genes involved in regulation of the nuclear factor – kappa B ( NF ‐κB) pathway are suggested to play a role in the pathogenesis of acute myeloid leukaemia ( AML ). The present study aimed to assess the association between the NF ‐κB1, TRAF 3 and TLR s genes single nucleotide polymorphisms ( SNP s) and disease susceptibility as well as progression in patients with AML . For this purpose 62 patients and 126 healthy individuals were genotyped for NF ‐κB1 (rs28362491), TRAF 3 (rs11160707; rs12147254), TLR 2 (rs201786064), TLR 4 (rs4986790; rs4986791) and TLR 9 (rs5743836; rs187084) alleles. Three SNP s were found to be associated with the risk for the AML development. The TRAF 3 (rs12147254) AA homozygosity ( RR = 2.770, P = 0.0392), TLR 9 (rs5743836) C wild‐type allele (RR = 2.542, P = 0.0096) as well as TLR 9 (rs187084) T allele ( RR = 13.396, P < 0.0001) and its homozygosity ( RR = 11.805, P < 0.0001) were more frequent among patients with AML than healthy individuals. The associations of the rs187084 SNP were significant for both sexes. Moreover, patients who relapsed were more frequently characterized with the presence of the rs187084 TLR 9 TT genotype ( P = 0.045) or the rs12147254 TRAF 3 A variant ( P = 0.066). In conclusion, polymorphisms within the TLR 9 and TRAF 3 genes are associated with predisposition to AML and may affect the progression of the disease in the Polish population.