Fig. 5: Association of DGKZ with SCZ through alternative splicing rather than overall mRNA abundance.
From: Genetic control of RNA splicing and its distinct role in complex trait variation
a, GWAS, sQTL and eQTL P values. The top track shows −log10(P) of SNPs from the SCZ GWAS. The second, third and fourth tracks show −log10(P) from the LeafCutter and QTLtools sQTL (intron 11:46391100:46392863:clu_288873_), THISTLE sQTL and eQTL analyses, respectively, for DGKZ. The THISTLE sQTL P values were computed using a one-sided sum of chi-squared test and the eQTL and LeafCutter and QTLtools sQTL P values were computed using a one-sided chi-squared test. b, Isoform-eQTL effects for DGKZ in the whole dataset (n = 2,865), with ENST00000318201.12 and ENST00000534125.5 at the 2 extremes with opposite isoform-eQTL effects. Each dot represents an estimate of the isoform-eQTL effect with an error bar indicating the 95% CI of the estimate. c,d, Association of rs7936413 (the lead LeafCutter and QTLtools sQTL SNP) with an excision ratio of 11:46391100:46392863:clu_288873_ and overall mRNA abundance of DGKZ, respectively, in the ROSMAP data. Each box plot shows the distribution of intron excision ratios (c) or mRNA abundances (d) in a genotype class, that is, CC (n = 21), CT (n = 218) or TT (n = 593). The line inside each box indicates the median value, the notches indicate the 95% CI, the central box indicates the IQR, the whiskers indicate data up to 1.5 times the IQR and the outliers are shown as separate dots.
