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. Author manuscript; available in PMC: 2026 Mar 31.
Published in final edited form as: Circ Genom Precis Med. 2026 Feb 16;19(2):e004918. doi: 10.1161/CIRCGEN.124.004918

Figure 2. Mutations in the ASD-associated locus significantly reduce ROBO2 expression hiPSC-derived cardiomyocytes.

Figure 2.

(A) Schematic of the ASD locus genotypes. Mutants were generated using CRISPR/Cas9. Risk SNPs (SNP1-SNP15) are represented as circles (red: GWAS SNPs and nearby SNPS in LD; grey, SNPs in LD with GWAS SNPs with higher MAF in subjects with non-EU ancestry). The dark blue triangle indicates the CTCF binding site, and the blue box indicates the putative enhancer. The black vertical line indicates the start or end of the mutation, while the black dashed line represents the deleted region. The thick grey line indicates the intron. The red arrow represents the inverted haplotype. (B) Comparison of ROBO2 expression, normalized to GAPDH expression, assessed by qPCR at day 8 post hiPSC differentiation. The number of replicates analyzed is denoted as N. Fold change was analyzed by ddCt method. P-values were calculated with a t-test of dCt values. **** P < 0.0001, *** P < 0.001, ** P < 0.01, * P < 0.05. (C) Normalized ROBO2 expression of the mutants from RNA-seq. P values were calculated by DESeq2 and corrected for multiple testing with the Benjamini-Hochberg method. (D) Normalized expression of 338 common DEGs in the mutants. Known CHD genes are highlighted. (E) Gene Ontology analysis results of the 338 common DEGs. P values were adjusted with the Bonferroni method. Gene count indicates the number of the tested genes that fall into the given GO term.