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

Poster (download)

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Arina Degtyareva¹, Elena Leberfarb², Ilya Brusentsov³, Tatiana Kuzina⁴, Tatiana Merkulova^5
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.