Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry.

This figure consists of three scatter plots showing the relative total mRNA expression of *CHRNA5* (log transformed) across different genotypes for three single nucleotide polymorphisms (SNPs): rs880395, rs3841324, and rs588765. In all three plots, mRNA expression levels decrease as the number of minor alleles (A for rs880395, S for rs3841324, and T for rs588765) decreases. Each plot includes individual data points with mean and error bars for the respective genotype groups.

Figure 2a is a combined bar and line chart showing relative allele-specific expression (ASE) and the Davies-Bouldin (DB) validity index across subjects, with a red dot marking the optimal ASE cutoff. Figure 2b is a heatmap/table displaying the concordance of allelic expression variation with heterozygosity for 13 highlighted SNPs across 44 samples. Samples 1–14 exhibit balanced ASE (<2) and are homozygous for the 13 SNPs, while samples 15–44 exhibit imbalanced ASE and are heterozygous for the same SNPs.

Figure 3a is a combined bar and line graph showing relative allele-specific expression (ASE) for rs615470 across subjects, with a superimposed line representing the Davies-Bouldin (DB) validity index; a red dot marks the optimal cutoff where the DB index is minimized. Figure 3b is a genotype heatmap and table comparing 45 samples, showing that samples 1–6 with balanced ASE are homozygous for 13 highlighted SNPs, while samples 7–45 with imbalanced ASE are heterozygous for those same SNPs. The x-axis of 3a represents individual subjects, and the y-axes represent relative ASE and the DB index.

Figure 4a is a combined bar and line graph showing relative allele-specific expression (ASE) for 15 subjects (bars) and the Davies-Bouldin (DB) validity index (line), with a red dot marking the optimal d cutoff. Figure 4b is a table and heatmap showing that samples #1–5, which have lower ASE (<2), are homozygous for 10 highlighted SNPs, while samples #6–15, which exhibit higher ASE, are heterozygous for those same SNPs. The data compares allelic expression imbalance with genotype heterozygosity across the specified samples.

This is a schematic diagram illustrating the gene structures of *PSMA4* and *CHRNA5*. The figure maps various single nucleotide polymorphisms (SNPs) across the genomic region, with specific SNPs highlighted in red to indicate potential functional eQTLs. The genes are represented by blue blocks (exons) and lines (introns), with arrows indicating the direction of transcription.