South Asian Journal of Experimental Biology, Vol 5, No 4 (2015)

Jul 15
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Association study of functional polymorphisms of DNMT3A and DNMT3B genes with breast carcinoma in north Indian population

Shruti Singh, Kiran Singh, Manisha Sachan



DNMT3A and DNMT3B are de novo methyltransferases which are responsi-ble for de novo methylation patterns of the unmethylated DNA. Two Single nucleotide polymorphisms (SNPs) in these genes i.e. -448A>G in DNMT3A and C46359T in DNMT3B, contribute a lot to the genetic susceptibility to breast cancer. In the present study, we analyzed the genotype frequencies of -448A>G polymorphism of DNMT3A and C46359T polymorphism of DNMT3B in breast cancer patients and healthy control subjects to explore the associa-tion of these single nucleotide polymorphisms with susceptibility to develop breast carcinoma. Genotyping was done by PCR-RFLP. 74 patients and 76 controls were genotyped for the DNMT3A (-448A>G) SNP, whereas 72 pa-tients and 107 controls were screened for DNMT3B (C46359T) polymor-phism. Our study clearly suggest that compared to GG carriers, the DNMT3A-448AA homozygotes had a 2.92 fold risk of developing breast carcinoma whereas for DNMT3B (C46359T) polymorphism, CT & CT+CC genotype carri-ers showed a 1.32 & 1.23 fold risk of developing breast carcinoma respec-tively. In Conclusion, DNMT3A SNP -448A>G contributes to genetic suscepti-bility to breast carcinoma whereas DNMT3B SNP C46359T was not found to be associated with pathogenesis of breast cancer in north Indian population.

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