Association of PTEN gene 32bp deletion variant with development of CML: A Case-Control study

PTEN (Phosphatase and Tensin Homolog) a tumor suppressor and an important second messenger involved of the AKT signaling pathway is known to be mutated in several cancers including chronic myeloid leukemia (CML). CML is a myeloproliferative disorder characterized by the t(9;22) translocation coding for the chimeric protein, BCR-ABL. The tumor suppressor PTEN plays a critical role in the pathogenesis of CML, through non genomic loss of function mechanisms, such as protein down-regulation and impaired nuclear/cytoplasmic shuttling. The present study is an attempt to evaluate the association of PTEN 32bp deletion polymorphism with CML in regional state of Southern India. Blood samples (CML cases, age and gender matched controls from local population) was collected and analyzed for the PTEN 32bp deletion polymorphism. DNA was isolated by salting out method and genotyping was carried out by PCR and analyzed on 4% gel. Odds ratio was calculated using SNPSTATs. D/D genotype of PTEN 32bp gene polymorphism was found to confer reduced risk for CML development indicating the protective nature of D allele for CML susceptibility. These results indicate that the polymorphism is strongly associated with CML susceptibility but not with progression. However, this is the first report on PTEN gene polymorphism in CML. Hence, further larger sample based functional studies are required to validate its role in CML.