Genome-wide Association Analysis of Eye Movement Dysfunction in Schizophrenia

Masataka Kikuchi, Kenichiro Miura, Kentaro Morita, Hidenaga Yamamori, Michiko Fujimoto, Masashi Ikeda, Yuka Yasuda, Akihiro Nakaya, Ryota Hashimoto

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


Eye movements are considered endophenotypes of schizophrenia. However, the genetic factors underlying eye movement are largely unknown. In this study, we explored the susceptibility loci for four eye movement scores: the scanpath length during the free viewing test (SPL), the horizontal position gain during the fast Lissajous paradigm of the smooth pursuit test (HPG), the duration of fixations during the far distractor paradigm of the fixation stability test (DF) and the integrated eye movement score of those three scores (EMS). We found 16 SNPs relevant to the HPG that were located in 3 genomic regions (1q21.3, 7p12.1 and 20q13.12) in the patient group; however, these SNPs were intronic or intergenic SNPs. To determine whether these SNPs occur in functional non-coding regions (i.e., enhancer or promoter regions), we examined the chromatin status on the basis of publicly available epigenomic data from 127 tissues or cell lines. This analysis suggested that the SNPs on 1q21.3 and 20q13.12 are in enhancer or promoter regions. Moreover, we performed an analysis of expression quantitative trait loci (eQTL) in human brain tissues using a public database. Finally, we identified significant eQTL effects for all of the SNPs at 1q21.3 and 20q13.12 in particular brain regions.

Original languageEnglish
Article number12347
JournalScientific reports
Issue number1
Publication statusPublished - 01-12-2018

All Science Journal Classification (ASJC) codes

  • General


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