The single nucleotide variant rs12722489 determines differential estrogen receptor binding and enhancer properties of an IL2RA intronic region.

doi:10.1371/journal.pone.0172681

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Article

The single nucleotide variant rs12722489 determines differential estrogen receptor binding and enhancer properties of an IL2RA intronic region.

PloS one - 1 Jan 2017

Afanasyeva Marina A, Putlyaeva Lidia V, Demin Denis E, Kulakovskiy Ivan V, Vorontsov Ilya E, Fridman Marina V, Makeev Vsevolod J, Kuprash Dmitry V, Schwartz Anton M

Abstract excerpt

We studied functional effect of rs12722489 single nucleotide polymorphism located in the first intron of human IL2RA gene on transcriptional regulation. This polymorphism is associated with multiple autoimmune conditions (rheumatoid arthritis, multiple sclerosis, Crohn's disease, and ulcerative colitis). Analysis in silico suggested significant difference in the affinity of estrogen receptor (ER) binding site...

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PMID: 28234966
DOI: 10.1371/journal.pone.0172681
PMCID: PMC5325477

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