Genotype and DNA methylation regulate gene expression of SPATC1L in a conjoined manner and inversely correlate at the transcription start (TSS) and end site (TES). (A) Schematic overview of the gene structure of SPATC1L. (B) AF individuals have high levels of promoter DNA methylation, a TT phenotype enriched in rs8133082, and reduced expression of SPATC1L. The figure displays the absolute DNA methylation levels (low: green; high: red) for four promoter-related pop-CpGs of African-American (brown), Caucasian-American (pink), and Han Chinese-American (yellow) individuals; the genotype of rs8133082 for the individual samples (GG, GT, TT); the correlation between DNA methylation (cg08742575) and the genotype (rs8133082); and the gene expression level (SPATC1L). Samples are ranked by mean CpG methylation values. (C) Unlike the promoter, AF individuals have CpG hypomethylation, which is positively correlated with SPATC1L gene expression (cg11766577).
