Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism

• DOI: 10.1186/s13059-022-02613-1
• Publication Date: 2022-02-16T00:03:36Z
• Authors: Yihui Zhu; J. Antonio Gomez; Benjamin I. Laufer; Charles E. Mordaunt; Julia S. Mouat; Daniela C. Soto; Megan Y. Dennis; Kelly S. Benke; Kelly M. Bakulski; John Dou; Ria Marathe; Julia M. Jianu; Logan A. Williams; Orangel J. Gutier...; Cheryl K. Walker; Sally Ozonoff; Jason Daniels; Luke P. Grosvenor; Heather E. Volk; Jason I. Feinberg; M. Daniele Fallin; Irva Hertz-Picciotto; Rebecca J. Schmidt; Dag H. Yasui; Janine M. LaSalle
• Keywords: Genomic Imprinting; Epigenomics; Differentially methylated regions; Human genetics; Bisulfite sequencing

Autism spectrum disorder (ASD) involves complex genetics interacting with the perinatal environment, complicating discovery of common genetic risk. The epigenetic layer DNA methylation shows dynamic developmental changes and molecular memory in utero experiences, particularly placenta, a fetal tissue discarded at birth. However, current array-based methods to identify novel ASD risk genes lack coverage most structurally epigenetically variable regions human genome.