Functional study of potential regulatory SNPs (rs590352, rs11542583, rs3829202, rs78317230, rs2072580, rs4796672)

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Arina Degtyareva1, Elena Leberfarb2, Ilya Brusentsov3, Tatiana Kuzina4, Tatiana Merkulova5
1ICG SB RAS, degtyareva_rso@mail.ru
2ICG SB RAS, lieberfarb@bionet.nsc.ru
3ICG SB RAS, brusentsovi@gmail.com
4NSU, t.kuzina@g.nsu.ru
5ICG SB RAS, merkulova@bionet.nsc.ru

In a previous study using a new bioinformatic approach based on Chip-Seq data with antibodies against various transcription factors and histone modifications, ChiA-PET, RNA-seq and ICGC data, 32 potentially regulatory single -nucleotide polymorphisms (rSNPs) were associated with colorectal cancer. In this study, a functional analysis of 6 of these polymorphisms was performed using EMSA and the luciferase reporter system. These nucleotide substitutions have been shown to alter the binding of nuclear extract proteins and influence the expression of the reporter gene.

 

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