Association of protein phosphatase 1 regulatory subunit 1B ( PPP1R1B) polymorphisms with schizophrenia in Han population of northern Henan province
10.3760/cma.j.cn371468-20240620-00287
- VernacularTitle:豫北地区汉族人群 PPP1R1B基因多态性与精神分裂症的关联分析
- Author:
Yanli LU
1
;
Xiujuan WANG
;
Zhaonian CHEN
;
Xi SU
;
Song LIU
;
Yongfeng YANG
;
Wenqiang LI
Author Information
1. 新乡医学院第二附属医院，河南省精神病医院精神九科，新乡 453002
- Publication Type:Journal Article
- Keywords:
Schizophrenia;
Protein phosphatase 1 regulatory subunit 1B;
Single nucleotide polymorphisms;
Association analysis;
Clinical symptom
- From:
Chinese Journal of Behavioral Medicine and Brain Science
2025;34(2):131-137
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the association between single nucleotide polymorphism (SNP) of the protein phosphatase 1 regulatory subunit 1B( PPP1R1B) gene and schizophrenia in the Han population of northern Henan province. Methods:Utilizing Psychiatric Genomics Consortium 3 (PGC3) data, the SNPs of PPP1R1B gene which were significantly associated with schizophrenia were screened.Subsequently, totally 1 721 schizophrenia patients and 6 726 healthy controls from the Han population in northern Henan province were recruited for further analysis. The SNP rs907094, located within the PPP1R1B gene was validated, and the clinical symptoms of 386 schizophrenia patients were evaluated using the positive and negative syndrome scale (PANSS). Additionally, expression quantitative trait loci (eQTL) association analysis was conducted to explore the relationship between the rs907094 polymorphism and PPP1R1B gene expression.The PLINK v1.9, Genetic Power Calculater, SPSS 20.0 softwares were used for data analysis. Results:Significant differences in genotype AA, AG, GG(schizophrenia group: AA, 489(28.4%); AG, 848(49.3%); GG, 384(22.3%); control group: AA, 1 450(21.6%); AG, 3 386(50.3%); GG, 1 890(28.1%), χ2=45.418, P<0.05) and allele frequency(schizophrenia group: A, 1 826(53.1%); G, 1 616(46.9%); control group: A, 6 286(46.7%); G, 7 166(53.3%), χ2=43.877, P<0.05) were observed for SNP rs907094 between the schizophrenia group and control group. Individuals carrying allele A were identified to have a higher risk of developing schizophrenia compared to those carrying allele G ( OR=1.288, 95% CI=1.195-1.388). Furthermore, the genotype PPP1R1B gene was found to be associated with the clinical features of schizophrenia. A statistically significant difference was observed in the excitement/hostility factor between AA and GG patients with rs907094 (13.62±5.65, 15.54±4.66)( P<0.05). Additionally, significant differences were noted in the cognitive factor scores between AA and GA genotypes (17.76±5.58, 19.43±5.73)( P<0.05). Conclusions:In the Han population from northern Henan province, the rs907094 polymorphism of the PPP1R1B gene is associated with schizophrenia.And the specific locus may be implicated in arousal/hostility symptoms and cognitive dysfunction.
