Whole-genome profiling of age- and sex-associated DNA methylation signatures in human plasma cell-free DNA.

ABSTRACT:

Background

Age and sex significantly impact DNA methylation patterns, however, existing datasets typically include only a subset of methylation sites in the human genome, hindering our thorough understanding.

Methods

We recruited 98 generally healthy adults aged from 22 to 77 and investigated the effects of age and sex on plasma cell-free DNA (cfDNA) methylation through whole-genome bisulfite sequencing (WGBS) and association analysis.

Results

Here we show 3,047 age-associated and 1,053 sex-associated CpGs on autosomes, corresponding to 1,587 and 324 genes, respectively. To the best of our knowledge, many of these CpGs are newly discovered to be age- and sex-related at the DNA methylation level. The discovered sex-differential cfDNA methylation patterns on the X chrom

SUBMITTER: Chen W 

PROVIDER: S-EPMC12663547 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature