A single nucleotide polymorphism in the interferon regulatory factor 8 gene is associated with risk of AML in Iranian population

Abstract Interferon regulatory factor 8 (IRF8) gene encodes a protein which acts as a transcriptional activator or repressor. This transcription factor is highly expressed in myeloid progenitors, but it is significantly down-regulated or absent in most myeloid leukemias. In the current study, we apprised association between four single nucleotide polymorphisms within the IRF8 gene (rs9922666, rs11644034, rs17445836 and rs2280381) and risk of acute myeloid leukemia (AML) in Iranian population. The rs17445836 was associated with risk of AML in allelic model (A versus G: OR (95% CI) = 1.56 (1.11–2.2), P value = 0.01, adjusted P value = 0.04) and dominant model (AG + AA versus GG: OR (95% CI) = 1.86 (1.17–2.93), P value = 0.008, adjusted P vale = 0.032). The G A T and T A G C haplotypes (rs9922666, rs11644034, rs17445836 and rs2280381, respectively) were associated with risk of AML (OR (95% CI) = 17.92 (3.99–80.38), P value = 2e-04 and OR (95% CI) = 37.37 (4.24–329.53), P value = 0.0012, respectively). Thus, IRF8 gene might be proposed as a risk locus for AML in Iranian population.