Fig. 1: Overview of the study. | Nature Communications

Fig. 1: Overview of the study.

From: Multi-omics integration analysis identifies novel genes for alcoholism with potential overlap with neurodegenerative diseases

Fig. 1

Series of analyses were undertaken to identify the candidate causal genes associated with risk of AUD and DPW. We used the stratified linkage disequilibrium score (LDSC) regression to test whether the heritability of AUD and DPW is enriched in regions surrounding genes with chromatin markers in a specific tissue. This analysis helped us to identify the large eQTL/mQTLs datasets in the relevant tissues to perform the multi-omic integration analysis using SMR. The candidate causal SNPs and genes prioritized using SMR were further filtered according to threshold of association in GWAS and linkage disequlibrium (Heidi P and COJO). The complex loci with multiple genes were further validated and prioritized by exploring differential gene expression data from brains of people with alcohol use disorder and controls. Integration of eQTL data from monocytes also helped to prioritize candidate genes specifically expressed in the myeloid cells. The cell type specific epigenetic data from the human brain was also used to identify the causal SNP/s associated with DPW and AUD.

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