Fig. 2.
CHRNA5, CHNA3, CHNB4 gene cluster. This screenshot of the GTEx IGV Browser displays the alignment of the three nicotinic receptors, with GWAS hits (green bars) and RNA eQTLs (red dots: CHRNA5, gray dots: mostly CHRNB4, some for the noncoding RP11-160C18.2). Top CHRNA5 eQTLS are highly significant (p<e-22), and together with GWAS hits line up over 400,000 bps in several very long overlapping LD blocks. The LD blocks each carry one or more functional variants, including the functionally relevant nsSNP rs16969968. The data used for the analyses described in this manuscript were obtained from the GTEx Portal on January 20, 2023 (https://www.gtexportal.org/home/browseEqtls?location=CHRNA5) (GTEx Consortium, 2020). eQTLs, expression quantitative expression loci; GTEx, Genotype-Tissue Expression.