Association of Janus kinase 2 (JAK2) polymorphisms with acute leukemia susceptibility.

INTRODUCTION

Aberrant activation of Janus kinase (JAK)/signal transducer and activator of transcription (STAT) pathway leads to deregulated proliferation, differentiation, or apoptosis of normal cells. One of the members of this family, JAK2, plays a very important role in metabolizing carcinogens and medications. This study aimed to detect whether any association exists between genetic polymorphisms in JAK2 gene and individual susceptibility to acute leukemia.

METHODS

A case-control study in a Chinese population with 260 acute leukemia cases and 280 healthy controls matched by age, gender, and ethnicity. Genomic DNA was assayed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF) with five genetic polymorphisms in JAK2 gene.

RESULTS

The distributions of rs56118985 GA genotype in the acute leukemia and acute myeloid leukemia (AML) groups were both slightly different when compared with the control group (P = 0.049 and P = 0.045). The frequencies of rs2230724 AA and GA genotypes in the acute leukemia and its subtypes were all significantly higher than that in the control group (P < 0.001). This suggested that subjects with A allele of rs2230724 were susceptible to acute leukemia and its subtypes. In addition, A allele of rs2230724 should be an important genetic determinant for acute leukemia and AML.

CONCLUSION

The results indicate that the risk of acute leukemia might be associated with JAK2 polymorphisms.