Mapping allele-specific DNA methylation: a new tool for maximizing information from GWAS

Area of Science:

• Genetics
• Epigenetics
• Genomics

Background:

• Allele-specific DNA methylation (ASM) is a known hallmark of imprinted genes and occurs during X chromosome inactivation.
• Previous research has focused on imprinted ASM, but a broader understanding of nonimprinted ASM is emerging.

Purpose of the Study:

• To profile the landscape of allele-specific DNA methylation (ASM) genome-wide in humans.
• To investigate nonimprinted, sequence-dependent ASM and its prevalence.
• To explore the implications of ASM for gene regulation and genome-wide association studies (GWAS).

Main Methods:

• Utilized a high-resolution, methylation-sensitive SNP array (MSNP) method.
• Performed genome-wide profiling of ASM in peripheral blood leukocytes (PBL) and buccal cells.
• Analyzed samples from monozygotic twin pairs.

Main Results:

• Documented the widespread occurrence of nonimprinted, sequence-dependent ASM across the human genome.
• Provided a high-resolution map of ASM, adding new detail to its known characteristics.
• Identified ASM as a potentially valuable tool for enhancing information extraction from GWAS.

Conclusions:

• Nonimprinted, sequence-dependent ASM is a widespread phenomenon in the human genome.
• ASM has significant implications for understanding gene regulation and genetic-epigenetic interactions.
• ASM mapping offers a practical application for maximizing insights from genome-wide association studies.