Celiac disease associated SNP rs17810546 is located in a gene silencing region.

Authors :: Zwiers A
van Wanrooij RLJ
Dieckman T
Nijeboer P
Kraal G
Bouma G
Source :: Gene [Gene] 2020 Feb 05; Vol. 726, pp. 144165. Date of Electronic Publication: 2019 Nov 11.
Publication Year :: 2020
Abstract: 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 modulation is influenced by the genetic composition of the haplotype which rs17810546 forms with a nearby other variant, rs761008. Secondly, we present data that this genetically imprinted modulation could be involved in Celiac Disease through the IL12A gene which is located 40 Kb downstream of this regulatory region. Based on our findings it is most likely that the IL12A gene does so as part of the cytokine IL-35.<br /> (Copyright © 2019. Published by Elsevier B.V.)