Fig. 2

GJA1 mRNA/protein expression is correlated with AD pathogenesis, dementia and known AD risk factor genes. GJA1 mRNA expression is correlated with the MMSE score in the prefrontal cortex region in the ROSMAP cohort (a), the NTrSum score in the cortex region frontal pole (BM10) the MSBB cohort (b), the Braak score in the parahippocampal gyrus (BM36) in the MSBB cohort (c), and the CDR score in BM36 in the MSBB cohort (d), and CERAD in BM36 in the MSBB cohort (e). The GJA1 protein level is also correlated with the plaque mean density (PLQ_Mn) in the frontal pole (BM10) in the MSBB cohort (f). Inset was the correlation coefficient along its p value between individual clinical traits and GJA1 mRNA/protein level. Severity of AD symptoms was classified based on each individual AD neuropathological and cognitive traits according to the criteria established in the ROSMAP clinic codebook [91, 92]. g. Gja1 mRNA expression is correlated with a vast majority of the ADGWAS genes in the MSBB (BM10, BM22, BM36 and BM44) and ROSMAP RNA-seq datasets. Colors represent Correlation coefficients: red, high; blue, low; yellow, in between. * and ** stand for significance at 5 and 0.5% level, respectively while ns indicates insignificant correlation and na stands for “not applicable”. Shown in the heatmap are only the ADGWAS genes that passed RNA-seq data preprocessing, normalization and annotation