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Allele-specific DNA methylation of disease susceptibility genes in Japanese patients with inflammatory bowel disease

Fig 5

The signal cluster plot in typical allele-specific DNA methylation (ASM) by methylation-sensitive SNP array (MSNP) analysis.

(a, b, c) Array data of rs1130368 located around inflammatory bowel disease (IBD) susceptibility gene showing ASM. Rs1130368 is located on the exon of HLA-DQB1 (6p21. 32). (a) All samples, (b) Homozygous samples, (c) Heterozygous samples. Heterozygous changed to homozygous after digestion ( = 0.23 was the top score in candidates). This change was monoallelic (G/T changed only T/T); thus, ASM regulated in cis with genotype and not genomic imprinting. This indicated that hypermethylation existed around T allele, whereas hypomethylation existed around G allele. (d, e, f) Array data of rs36221701 located around IBD susceptibility gene showing ASM. Rs36221701 is located on the upstream of SMAD3 (15q22.33). (d) All samples, (e) Homozygous samples, (f) Heterozygous samples. Heterozygous samples tended to change to homozygous after digestion ( = 0.14). This change was monoallelic (C/T changed only C/C); thus, ASM regulated in cis with genotype and not genomic imprinting. This indicated that hypermethylation existed around C allele, whereas hypomethylation existed around T allele. RAS, relative allele score.

Fig 5

doi: https://doi.org/10.1371/journal.pone.0194036.g005