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Association of Janus kinase 2 ( JAK2 ) polymorphisms with acute leukemia susceptibility
Author(s) -
ZHONG Y.,
WU J.,
MA R.,
CAO H.,
WANG Z.,
DING J.,
CHENG L.,
FENG J.,
CHEN B.
Publication year - 2012
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2011.01386.x
Subject(s) - myeloid leukemia , leukemia , genotype , janus kinase , acute leukemia , allele , cancer research , medicine , immunology , genetics , biology , gene , signal transduction
Summary 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.