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Fig. 5 | Genome Medicine

Fig. 5

From: Identification of specific susceptibility loci for the early-onset colorectal cancer

Fig. 5

Biological interpretation of EOCRC risk variant rs12794623. A Regional plot of LD r2 and recombination rates in a 1-Mb region centered by rs12794623 based on the 1000 Genomes Nov 2014 EUR population. B The association between rs12794623 genotypes and POLA2 expression using colon-sigmoid tissues in GTEx V8 database (dbGaP Accession phs000424.v8.p2). P values were calculated by a two-sided Student’s t-test. C Relative luciferase activity of fragments containing either the rs12794623[A] or rs12794623[C] allele in HCT116 and SW480 cells. ****P < 0.0001 by a two-sided Student’s t-test. D and E EMSAs with labeled probes containing rs12794623[A] or rs12794623[C] allele and nuclear extracts from HCT116 and SW480 cells. The arrow illustrated allele-specific differences in protein binding. F The predicted binding sites sequence of rs12794623 and GR motif using the JASPAR database. The rs12794623[C] allele showed a stronger motif binding possibility. G The negative correlation of POLA2 with GR in TCGA COAD and READ tissues and H in our own CRC tissues. The expression levels of POLA2 and GR were detected by qRT-PCR and normalized to that of GAPDH. All P values and R values were calculated by Spearman’s correlation analysis

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