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. 2019 Mar 12;103(10):1530–1536. doi: 10.1136/bjophthalmol-2018-313086

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© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Luciferase assay in HEK293T Cells. (A) 3337 bp inserts repress luciferase expression. Insert with haplotype 2 (rs4657473 C>T) shows greater repression than Inserts 3 (rs116461237 G>A) (p=0.0261) and 4 (rs4656461 A>G) (p=0.0443). (B) Serial deletion of 3337 bp inserts identifies the core repressor 703 bp fragment surrounding SNP rs4656461. One-way ANOVA: Insert 1 (p<0.0001), Insert 2 (p=0.006), Insert 3 (p=0.0028), Insert 4 (p<0.001). (C) 703 bp insert acts as an enhancer when cloned in the reverse orientation. Greater enhancer activity is shown by Insert 4_703Rev (rs4656461 A>G) over wildtype sequence in Insert 1_703Rev (p=0.0252). SNP, single nucleotide polymorphism.