Fig. 4

FADS1 and FADS2 gene structure and the methylation patterns of the three regions (region1, region2, and region3). (C) The three regions are indicated with blue shaded boxes. FADS1 and FADS2 are located head to head on chromosome 11. Two CpG islands (CGI1 and CGI2) are depicted as green solid boxes on the left and right sides, covering the first exons of FADS1 and FADS2, respectively (GRCh38/hg38 Assembly). The H3K4Me1, H3K4Me3, and H3K27Ac marks on 7 cell lines from ENCODE are displayed as colored overlaid histograms. DNase Hypersensitivity 1 regions are displayed as gray to black solid boxes (from less to more open chromatin conformation). NM_001281501.1, NM_001281502.1, and NM_004265.3 refer to different transcript variants due to alternative splicing (NCBI Reference Sequence). (A, F, and G) DNA methylation levels of the CpG sites of the CC (n = 13), CT (n = 17), and TT (n = 12) carriers in the three regions. A total of 27 CpG sites in region1, 8 CpG sites in region2, and 28 CpG sites in region3 are shown in the bar charts. (B, D, and E) The genomic locations of the CpG sites that were significantly associated with rs174570 are shown. The arrow represents the direction of the gene, and the filled rectangles represent the CpG sites. The specific position of each CpG site on the chromosome is marked in a gray shaded box. ***P < 0.001, **P < 0.01, *P < 0.05. FADS, fatty acid desaturase