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Genetic analyses support the contribution of mRNA N6-methyladenosine (m6A) modification to human disease heritability

Zijie Zhang1,2, Kaixuan Luo3, Zhongyu Zou1,2

  • 1Department of Chemistry and Institute for Biophysical Dynamics, The University of Chicago, Chicago, IL, USA.

Nature Genetics
|July 1, 2020
PubMed

Insights

Genetic factors influencing N6-methyladenosine (m6A) RNA modification were mapped. These m6A quantitative trait loci (QTLs) impact immune and blood traits, revealing new disease risk genes.

Area of Science:

  • Genetics
  • Molecular Biology
  • Epigenetics

Background:

  • N6-methyladenosine (m6A) is a crucial regulator of messenger RNA processing.
  • The genetic underpinnings and disease relevance of m6A modification remain underexplored.

Purpose of the Study:

  • To identify genetic determinants of m6A modification by mapping quantitative trait loci (QTLs).
  • To investigate the relationship between m6A QTLs and common diseases, particularly immune and blood-related traits.

Main Methods:

  • Quantitative trait loci (QTL) mapping of m6A peaks in Yoruba lymphoblastoid cell lines.
  • Integration of m6A QTLs with expression and splicing QTLs, RNA-binding protein sites, and transcriptional features.
  • Joint analysis of m6A QTLs with molecular traits and genome-wide association study data.

Main Results:

  • m6A QTLs were largely independent of expression and splicing QTLs.
  • m6A QTLs are enriched in regulatory elements like RNA-binding protein sites and RNA structures.
  • m6A QTLs contribute significantly to the heritability of immune and blood traits.
  • Proteins mediating m6A's translational effects were identified.
  • Putative risk genes for immune and blood traits were identified using m6A QTLs.

Conclusions:

  • The genetic architecture of m6A modification is distinct from expression and splicing.
  • m6A modification plays a significant role in the heritability of complex human traits.
  • m6A QTLs offer a valuable resource for identifying disease risk genes and understanding molecular mechanisms.

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