Association of Janus Kinase 2(JAK2) A830G Polymorphism with Acute Leukemia Susceptibility.

Aberrant activation of the The Janus kinase(JAK)/signal transducer and activator of transcription (STAT) pathway may predispose to leukemia cells due to deregulation of proliferation, differentiation or apoptosis. One of the members of this family, JAK2, plays a very important role in metabolizing carcinogens and medications. In this study, we aimed to determine whether any association exists between genetic polymorphism in JAK2 A830G and individual susceptibility to acute leukemia.

We carried out a case-control study using a China sample set with 243 acute leukemia cases and 282 controls matched by age, ethnicity. 68 of the acute leukemia patients were diagnosed with acute lymphoblastic leukemia (ALL) and 175 patients with acute myeloid leukemia (AML). Genomic DNA was isolated from peripheral blood and genomic DNA samples were assayed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF) in the A830G on JAK2 gene. The data were analyzed statistically employing chi-square and logistic regression analyses.

The frequencies of G/G genotype (wild type) were 4%, 8% and 31.4% in ALL, AML and control groups, respectively. The frequencies of polymorphic G/A genotype (heterozygous variant) were found to be 69% in ALL patients, 71% in AML patients and 48.6% in controls. The A/A genotype (homozygous variant) were existed to be 69% in ALL patients, 20% in AML patients and 20% in controls. Logistic regression analyses showed a significant correlation between the JAK2 A830G polymorphism (G/G) and acute leukemia patients (OR = 1.309, 95% CI =0.839-2.043, p<0.001).

Our findings indicate that G/G genotype may be an important genetic determinant for acute leukemias. According to our knowledge, this is the first report of an association between acute leukemia cases and the JAK2 A830G polymorphism.

No relevant conflicts of interest to declare.