Orimo Narihiro, Katsuta Narimasa, Mao Wanyi, Fukushima Eriko, Kawahara Kaori, Nakayama Ken, Hirose Hitoki, Yamashita Hiroki, Nishimon Shohei
Juntendo Iji Zasshi. 2024 Feb 10;70(2):132-141. doi: 10.14789/jmj.JMJ23-0009-OA. eCollection 2024.
This study presents the multifaceted effects of candidate loci identified by genome-wide association studies on parameters such as educational background and the clinical symptoms of Japanese patients with schizophrenia along with detailed psychological measurements. This study aimed to investigate whether gene mutations that affect cognitive dysfunction are (1) related to the onset of schizophrenia and (2) also affect cognitive dysfunction in patients with schizophrenia.
Case-control study.
This study evaluated 12 single-nucleotide polymorphisms (SNPs) (rs10189857, rs2175263, rs9398171, rs12670234, rs6466056, rs11156875, rs2018916, rs11663602, rs11885093, rs9404453, rs2473938, and rs4275659) that are common in Japanese individuals and demonstrated a relationship with schizophrenia and educational attainment in a previous genome-wide study. We included 640 Japanese patients (schizophrenia group) and 640 healthy participants (control group). Both groups were investigated for the relationship between the SNPs and educational attainment as well as psychometric evaluations of cognitive function.
The 12 SNPs were not identified as genetic risk factors for schizophrenia. However, rs9404453 was associated with a decline in educational achievement, educational performance, Japanese Adult Reading Test (JART100) score, and Wechsler Adult Intelligence Scale-Revised (WAIS-R) (full-scale intelligence quotient [FSIQ]) score in patients with schizophrenia, SNP rs6466056 was associated with a decline in the WAIS-R (FSIQ) score, and SNP rs11663602 was associated with a decline in the JART100 score.
The SNPs rs9404453, rs6466056, and rs11663602 may be associated with academic performance or cognitive decline in patients with schizophrenia, although the overall findings from psychological tests did not show the expected consistency.
本研究呈现了全基因组关联研究确定的候选基因座对日本精神分裂症患者的教育背景和临床症状等参数的多方面影响,并进行了详细的心理测量。本研究旨在调查影响认知功能障碍的基因突变是否(1)与精神分裂症的发病有关,以及(2)是否也会影响精神分裂症患者的认知功能障碍。
病例对照研究。
本研究评估了12个单核苷酸多态性(SNP)(rs10189857、rs2175263、rs9398171、rs12670234、rs6466056、rs11156875、rs2018916、rs11663602、rs11885093、rs9404453、rs2473938和rs4275659),这些SNP在日本人中较为常见,且在之前的全基因组研究中显示与精神分裂症和教育程度有关。我们纳入了640名日本患者(精神分裂症组)和640名健康参与者(对照组)。对两组进行了SNP与教育程度之间关系的调查以及认知功能的心理测量评估。
这12个SNP未被确定为精神分裂症的遗传危险因素。然而,rs9404453与精神分裂症患者的教育成就下降、学业表现、日本成人阅读测试(JART100)得分以及韦氏成人智力量表修订版(WAIS-R)(全量表智商[FSIQ])得分下降有关,SNP rs6466056与WAIS-R(FSIQ)得分下降有关,SNP rs11663602与JART100得分下降有关。
SNP rs9404453、rs6466056和rs11663602可能与精神分裂症患者的学业表现或认知衰退有关,尽管心理测试的总体结果并未显示出预期的一致性。