Extended Data Fig. 7: PNPLA3-ERE1 cfDNA methylation.
Impact of sex and carriage of PNPLA3 p.I148M variant on cfDNA methylation status of five different CpGs across the PNPLA3-ERE1 region in 90 participants of the Liver-Bible-2022 cohort. A) Schematic representation of CpG sites located immediately downstream of ERE1 (CpG1 at +24 bp, CpG2 at +66 bp, CpG3 at +110 bp, CpG4 at + 132 bp and CpG5 at + 149 bp). The ERE1 are underlined and CpGs in red. The region is chromosome 22: 44315438-44315637 (GRCh37/hg19 genome assembly). B) Boxplots showing CpG methylation ratio for each CpG in man (n = 85) and women (n = 6) stratified for PNPLA3 p.I148M genotype. In the box and whisker plots, the line in the middle of the box represents the medians, tops and bottoms of the boxes represent the 25th and 75th quartiles respectively, and the whiskers showed the 5th and 95th percentile. The impact of the PNPLA3 p.I148M variant on methylation was determined by generalized linear model (GLM), adjusted for sex. p=not significant for all comparisons. The impact of the variant was estimated by unadjusted generalized linear regression models, under an additive genetic model for the PNPLA3 variant.
