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. 2024 Jun 4;143(7):907–919. doi: 10.1007/s00439-024-02674-1

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 3 — rs10757278 STAT1 binding A-allele reduces reporter gene activity. (A, B) rs10757278-A significantly reduced luciferase activity in gingival fibroblasts (fold change = 1.72-fold, P = 0.0056) and in HeLa cells (fold change = 1.83-fold, P = 0.0063). (Control = empty pGL4.24 plasmid, *p < 0.05; **p < 0.01). (C) GTEx data indicate a cis-eQTL effect for rs10757278 on CDKN2B-AS1 expression (tissue: pituitary gland) with rs10757278-A significantly reducing CDKN2B-AS1 expression compared to the G allele (p = 3.9 × 10^− 6)