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. 2023 Feb 4;48(11):1555–1566. doi: 10.1038/s41386-023-01542-2

Fig. 1. Functional genomics analysis identifies rs2289702 as a functional variant in the CTSH gene.

Fig. 1

A Functional annotation of SNPs in the CTSH gene using ChIP-seq data and ATAC-seq data [46–50]. B Association of allele C of rs2289702 (upper), allele T of rs12148472 (middle), and allele G of rs12592898 (below) with an increased mRNA expression of CTSH in the cerebellar hemisphere, frontal cortex, and cortex. Data from the GTEx project [40] were reanalyzed by using a linear regression test. C Luciferase reporter assays showing a higher luciferase activity for the allele C (risk allele) than the allele T of rs2289702, whereas no significant difference was observed between alleles T and C of rs12148472 and between alleles A and G of rs12592898 in HEK293T cells, U251 cells, and HM cells. Data are presented as mean ± standard deviation (SD), and were analyzed by using two-tailed Student’s t test. *P < 0.05; **P < 0. 01; ****P < 1.0 × 10–4.