Article
Celiac disease associated SNP rs17810546 is located in a gene silencing region.
Gene - 5 Feb 2020
Zwiers Antonie, van Wanrooij Roy L J, Dieckman Tessa, Nijeboer Petula, Kraal Georg, Bouma Gerd
Abstract excerpt
GWAS studies have identified variant rs 17810546 in a non-coding region on chromosome 3 as a risk factor for several auto-immune diseases, including Celiac Disease. In silico analysis reveals that this variant is located in a transcription regulatory site. By means of reporter constructs we show that this region can override the expression rate of a gene as determined by its native promoter and that this...
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