@article{7187c82740b84616b6369f3f685dcb33,
title = "Assessment of a glyoxalase I frameshift variant, p.P122fs, in Japanese patients with schizophrenia",
abstract = "Enhanced carbonyl stress has been observed in a subgroup of patients with schizophrenia. Glyoxalase I, which is encoded by GLO1, is an enzyme that protects against carbonyl stress. In this study, we focused on the association between rare genetic variants of GLO1 and schizophrenia. First, we identified one heterozygous frameshift variant, p.P122fs, in 370 Japanese schizophrenia cases with allele frequencies of up to 1% by exon-targeted mutation screening of GLO1. We then performed an association analysis on 1282 cases and 1764 controls with this variant. The variant was found in three cases and eight controls. There was no statistically significant association between p.P122fs in GLO1 and schizophrenia (P=0.25). This frameshift variant in GLO1 might occur at near-polymorphic frequencies in the Japanese population, although further investigations using larger samples and biological analyses are needed to exclude the possibility of a low-penetrance genetic risk associated with this variant.",
keywords = "GLO1, frameshift variant, rare variant, schizophrenia",
author = "Kanako Ishizuka and Hiroki Kimura and Itaru Kushima and Toshiya Inada and Yuko Okahisa and Masashi Ikeda and Nakao Iwata and Daisuke Mori and Branko Aleksic and Norio Ozaki",
note = "Funding Information: This work was supported by the following: JSPS KAKENHI Grant Number JP17H06747; Kobayashi Magobee Research Foundation; research grants from the Ministry of Education, Culture, Sports, Science, and Technology of Japan; the Ministry of Health, Labour, and Welfare of Japan; the Platform Project for Supporting in Drug Discovery and Life Science Research (Platform for Drug Discovery, Informatics, and Structural Life Science) from Japan Agency for Medical Research and Development (AMED); the Strategic Research Program for Brain Sciences of AMED; the Brain Mapping by Integrated Neurotechnologies for Disease Studies (Brain/ MINDS) project of AMED; Grant-in-Aid for Scientific Research on Innovative Areas {\textquoteleft}Glial assembly: a new regulatory machinery of brain function and disorders{\textquoteright}; and Innovative Areas {\textquoteleft}Comprehensive Brain Science Network{\textquoteright}, this research was supported by AMED under Grant Number JP18dm0107087, JP18dm0207005, JP18dk0307075 and JP 18dk0307081. Publisher Copyright: {\textcopyright} 2018 Wolters Kluwer Health, Inc. All rights reserved.",
year = "2018",
month = oct,
day = "1",
doi = "10.1097/YPG.0000000000000204",
language = "English",
volume = "28",
pages = "90--93",
journal = "Psychiatric Genetics",
issn = "0955-8829",
publisher = "Lippincott Williams and Wilkins",
number = "5",
}
