Epigenetics
Is ethnic DNA methylation just ancestry?
Open access · cc by · source: Europe PMC
In 573 GALA II Latinos, shared ancestry explained a median 75.7% of ethnicity-linked methylation variance, but environmental signals (e.g., maternal smoking loci) still contributed.
Study at a glance
- Design
- Cross-sectional — EWAS of ethnicity vs DNA methylation in GALA II Latino participants with genetic ancestry estimates
- N
- N=573 · 573 participants with methylation data; 524 with genomic ancestry estimates (Puerto Rican n=220, Mexican n=276)
- Population
- Latino American GALA II participants (mostly Puerto Rican or Mexican origin) with dense genotyping and methylation arrays
- Outcome
- Ethnicity-associated CpG methylation, fraction explained by shared ancestry, and enrichment for environmentally associated loci
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Key findings
Ethnicity and ancestry associated with 916 and 194 CpGs. Ancestry accounted for a median 75.7% (IQR 45.8–92%) of ethnicity-associated methylation variance. After ancestry adjustment, 314/834 ethnicity sites remained. Ethnicity-associated sites were enriched for prior environmental associations, especially maternal smoking in pregnancy.
Methodology
Measured DNA methylation and genetic ancestry in GALA II Latino participants, mapped ethnicity-associated CpGs, estimated how much shared genomic ancestry explained those differences, and tested enrichment of environmentally associated sites.
Limitations
Cross-sectional methylation cannot prove which exposures caused residual ethnic differences; GALA II Latinos may not generalize to all populations.
How this study connects
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