Few studies have examined the intersection between the loci and genes associated with AUD and DPW, especially with respect to their functional and regulatory significance. As observed in other large GWAS, most genome-wide significant variants associated with AUD and DPW are intergenic and thus not directly mappable to a specific gene15,16. Furthermore, positionally mapping a non-coding variant to the nearest gene often does not identify the causal gene(s)15–17. Indeed, most variants identified by GWAS reside within and affect the activity of regulatory elements (e.g., enhancers and promoters) that regulate the expression of target causal genes in specific cell types; the affected genes are often located at quite a distance from the risk variant/ regulatory element13,15,16,18. Several recent studies have integrated GWAS data with expression QTLs (eQTLs) using co-localization or integration methods to identify causal variants and genes associated with schizophrenia, Alzheimer’s disease, and many other complex disorders13,15,16,18. While similar efforts have been targeted at AUD and DPW, they have predominantly relied on bulk mRNA expression data from the small number of brain tissue samples in GTEx10–14.
