Table 5. Significantly differentially methylated CpG sites by per- and poly-fluoroalkyl substances(at p < 9.4E-08).
| PFASs with significant association | ProbeID | Gene Name | Locus | Genic feature† | Average % methylation at CpG Site | Effect estimate (SE)‡ | p-value | q-value |
|---|---|---|---|---|---|---|---|---|
| Sb-PFOA | cg19385677 | CAPN12 | chr19:39233691 | Gene body | 75.8 | 0.020 (0.004) | 4.29E-08 | 0.032 |
| n-PFOS | cg19425289 | RAD1 | chr5:34917257 | near TSS; south shore | 75.6 | -0.043 (0.007) | 2.13E-08 | 0.016 |
| PFDA | cg18210730 | TUBD1 | chr17:57970058 | 5′ UTR; CpG island | 4.1 | 0.036 (0.006) | 6.70E-09 | 0.005 |
| cg12435415 | NA | chr3:186490344 | North shore | 0.8 | 0.013 (0.002) | 6.43E-08 | 0.024 | |
| PFUnDA | cg01721356 | LOC339529 | chr1:244110987 | Gene body | 92.4 | 0.010 (0.002) | 5.89E-09 | 0.004 |
TSS and UTR; south/north shores and shelves are in relation to CpG islands. Model adjusted for: age, gender, race (white vs. all other), Hispanic ethnicity, PC1, PC2, PC3, neutrophils, plasmablasts, CD8+ naive T cell, and CD8+CD28-CD45RA- cells.
Effect estimates represent the proportion of methylation change per in-transformed unit of PFASs (ng/ml for n-PFOS and PFDA) or the difference when comparing participants with detectable PFASs to those with nondetectable concentrations (for categorical PFASs: Sb-PFOA and PFUnDA). Models adjust for age, gender, race (white vs all other), ethnicity (Hispanic and non-Hispanic), PC1, PC2, PC3, neutrophils, plasmablasts, CD8+ naive T cells and CD8+CD28-CD45RA- cells.
chr: Chromosome; PFAS: Per- and poly-fluoroalkyl substance; PFUnDA: Perfluoroundecanoate; n-PFOA: Linear perfluorooctanoate; Sb-PFOA: Sum of branched PFOA isomer; TSS: Transcription start site; UTR: Untranslated region.