title: Significance of ATM Gene Polymorphisms in Chronic Myeloid Leukemia - a Case Control Study from India.
abstract: BACKGROUND
  Development of chronic myeloid leukemia (CML) involves formation of double strand breaks (DSBs) which are initially sensed by the ataxia telangiectasia mutated (ATM) signal kinase to induce a DNA damage response (DDR). Mutations or single nucleotide polymorphisms in ATM gene are known to influence the signaling capacity resulting in susceptibility to certain genetic diseases such as cancers.
  
  
  METHODS
  In the present study, we have analyzed -5144A>T (rs228589) and C4138T (rs3092856) polymorphisms of theATM gene through polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) in 925 subjects (476 CML cases and 449 controls).
  
  
  RESULTS
  The A allele of -5144A>T polymorphism and T allele of C4138T polymorphism which were known to be influencing ATM signaling capacity are significantly associated with enhanced risk for CML independently and also in combination (evident from the haplotype and diplotype analyses). Significant elevation in the frequencies of both the risk alleles among high risk groups under European Treatment and Outcome Study (EUTOS) score suggests the possible role of these polymorphisms in predicting the prognosis of CML patients.
  
  
  CONCLUSIONS
  This study provides the first evidence of association of functional ATM gene polymorphisms with the increased risk of CML development as well as progression.
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, India E-mail : sattivishnupriya@gmail.com.
authors.forename: Manjula
authors.initials: M
authors.lastname: Gorre
authors.forename: Prajitha Edathara
authors.initials: PE
authors.lastname: Mohandas
authors.forename: Sailaja
authors.initials: S
authors.lastname: Kagita
authors.forename: Anuradha
authors.initials: A
authors.lastname: Cingeetham
authors.forename: Sugunakar
authors.initials: S
authors.lastname: Vuree
authors.forename: Sarika
authors.initials: S
authors.lastname: Jarjapu
authors.forename: Santhoshirani
authors.initials: S
authors.lastname: Nanchari
authors.forename: Phanni Bhushann
authors.initials: PB
authors.lastname: Meka
authors.forename: Sandhya
authors.initials: S
authors.lastname: Annamaneni
authors.forename: Nageswara Rao
authors.initials: NR
authors.lastname: Dunna
authors.forename: Raghunadharao
authors.initials: R
authors.lastname: Digumarti
authors.forename: Vishnupriya
authors.initials: V
authors.lastname: Satti
mesh_terms: D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics*; D016022:Case-Control Studies; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007194:India / Q000453:epidemiology; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D009367:Neoplasm Staging; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D015996:Survival Rate
chemical_list: D014408:Biomarkers, Tumor; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins