Lack of association between functional polymorphism of DNA repair genes (XRCC1, XPD) and clinical response in Indian chronic myeloid leukemia patients

  • Somprakash Dhangar
  • Vinay Shanbhag
  • Chandrakala Shanmukhaiah
  • Babu Rao VundintiEmail author
Original Article


The resistance for the tyrosine kinase inhibitors in chronic myeloid leukemia (CML) occurs mainly due to BCR/ABL1 dependent and independent mechanisms. The defective DNA repair due to functional polymorphisms in DNA repair genes, might act as an etiological factor for leukemia progression. The study was carried out to understand the role of DNA repair genes (XRCC1, XPD) polymorphisms in Imatinib mesylate (IM) resistant CML patients. The study was carried out in total 87 CML patients (43 nonresponders-cases and 44 responders) who were treated with Imatinib. The treatment and follow-up was done according to European LeukemiaNet guidelines. The genotyping of selected SNPs were studied using RFLP and confirmed with Sanger sequencing (20%). The statistical analysis was performed using online tools (Socscistatistics and GraphPad InStat software). In our study no significant association was inferred between genotypes of DNA repair genes (XRCC1; rs1799782, rs25487, and XPD; rs13181) and complete cytogenetic response as well as molecular response. However there might be a possibility of association between XRCC1 Arg399Gln genotype AA/GA and cytogenetic response though it is statistically insignificant (p > 0.05). Though none of the genotypes of the DNA repair genes showed association with IM response, near association between XRCC1Arg399Gln genotype and cytogenetic response observed in our study. Hence, large sample size should be studied to establish the association of SNPs of DNA repair genes and IM response. Our study is a novel and important to explain the role of DNA repair genes polymorphisms in IM resistance.


DNA repair genes Double strand break (DSB) Clinical response Single nucleotide polymorphisms (SNPs) Chronic myeloid leukemia (CML) Imatinib mesylate 



The study was carried out from Institutional core grant from Indian Council of Medical Research, India. Thanks also due to study participants for their participation in follow up studies.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  1. 1.Department of CytogeneticsNational Institute of Immunohaematology (ICMR)MumbaiIndia
  2. 2.Department of HematologyKEM HospitalMumbaiIndia

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