Talks：

EWAS of DNA methylation and integrated approach for Narcolepsy

Name：

Makoto Honda

Position：

Doctor

Affiliation：

Sleep Disorders Project Tokyo Metropolitan Institute of Medical Science Tokyo, Japan

Email：

Photo：

Research Interests：

Narcolepsy、Hypersomnolence、Sleep Medicine

Selected Publications：

Abstract：

Narcolepsy is a multifactorial disease caused by both genetic and environmental factors. Several genetic factors including HLA-DQB1*06:02 have been identified; however, the disease etiology is still unclear. Epigenetic modifications including DNA methylation, have been suggested to play an important role in the pathogenesis of complex diseases. We examined DNA methylation profiles of blood samples from narcolepsy patients and healthy controls and performed an epigenome-wide association study (EWAS) to investigate methylation loci associated with narcolepsy. In addition we performed integrated analysis of data from the EWAS and a previously performed narcolepsy genome-wide association study to search for methylation loci with causal links to the disease. We found that the top-ranked differentially methylated positions (DMPs) in narcolepsy were significantly more abundant in non-CpG island regions and almost all of them were hypomethylated in narcolepsy patients. The integrative analysis identified the CCR3 region where both a single methylation site and multiple single-nucleotide polymorphisms were found to be associated with narcolepsy. Future replication studies using larger number and variety of samples (including brain tissue) with updated methylation technologies will be necessary to confirm and expand our results.