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.
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.