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.
| Original language | English |
|---|---|
| Pages (from-to) | 90-93 |
| Number of pages | 4 |
| Journal | Psychiatric Genetics |
| Volume | 28 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 01-10-2018 |
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All Science Journal Classification (ASJC) codes
- Genetics
- Genetics(clinical)
- Psychiatry and Mental health
- Biological Psychiatry
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Assessment of a glyoxalase I frameshift variant, p.P122fs, in Japanese patients with schizophrenia. / Ishizuka, Kanako; Kimura, Hiroki; Kushima, Itaru; Inada, Toshiya; Okahisa, Yuko; Ikeda, Masashi; Iwata, Nakao; Mori, Daisuke; Aleksic, Branko; Ozaki, Norio.
In: Psychiatric Genetics, Vol. 28, No. 5, 01.10.2018, p. 90-93.Research output: Contribution to journal › Article
TY - JOUR
T1 - Assessment of a glyoxalase I frameshift variant, p.P122fs, in Japanese patients with schizophrenia
AU - Ishizuka, Kanako
AU - Kimura, Hiroki
AU - Kushima, Itaru
AU - Inada, Toshiya
AU - Okahisa, Yuko
AU - Ikeda, Masashi
AU - Iwata, Nakao
AU - Mori, Daisuke
AU - Aleksic, Branko
AU - Ozaki, Norio
PY - 2018/10/1
Y1 - 2018/10/1
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=85054005026&partnerID=8YFLogxK
U2 - 10.1097/YPG.0000000000000204
DO - 10.1097/YPG.0000000000000204
M3 - Article
VL - 28
SP - 90
EP - 93
JO - Psychiatric Genetics
JF - Psychiatric Genetics
SN - 0955-8829
IS - 5
ER -