Objective: To investigate the association between phosphatase and tensin homolog (PTEN) gene polymorphisms with the efficacy of risperidone and extrapyramidal symptoms (EPS) in patients with schizophrenia, so as to provide insights into pharmacogenomic studies and individualized treatment of schizophrenia. Methods: The patients with schizophrenia in Shanghai Mental Health Center from 2019 to 2021 were selected using the consecutive enrollment method. Risperidone (4-8 mg/d) was used to treat for 8 weeks. The symptoms were investigated using the Positive and Negative Symptom Scale (PANSS), the treatment efficacy was evaluated using PANSS reducing rate before and after treatment, and EPS was evaluated using the Simpson-Angus Scale. Blood samples were drawn for DNA extraction at the time of patients enrollment and at the end of treatment. Five tag single nucleotide polymorphisms (SNPs) of PTEN gene were genotyped using the SNaPshot method. The association of PTEN genotypes with risperidone efficacy and EPS were using a multivariable logistic regression model. Results: Totally 144 cases of patients with schizophrenia were enrolled, including 85 males (59.03%) and 59 females (40.97%). The median age was 30.50 (interquartile range, 17.00) years. The median course of disease was 5.50 (interquartile range, 9.00) years. The median dose of risperidone was 4.00 (interquartile range, 0) mg/d. There were 60 cases effectively treated with risperidone (41.96%), and 30 cases with EPS (20.83%). Multivariable logistic regression analysis showed that none of the five SNP genotypes of PTEN was statistically associated with the efficacy of risperidone (all P>0.05), while the GT+TT genotype of rs17107001 was associated with a decreased risk of EPS (OR=0.110, 95%CI: 0.001-0.886). Conclusion The GT+TT genotype of the PTEN gene rs17107001 in patients with schizophrenia might be negatively associated with risperidone treatment-induced EPS.

Objective To explore the association between the polymorphisms of TSC1,TSC2,PTEN genes and autism in Chinese Han population.Methods 274 autism patients and 386 heahh controls were recruited,and SnaPshot technique was used to genotype the 13 tagSNPs of TSC1,TSC2 and PTEN genes.The allele,genotype and haplotype frequencies of the SNPs were compared using SHEsis and SNPStats softwares.Results Mter Bonferroni correction,the allele distribution of rs2809244 (TSC1) (x2 =9.537,P=0.002,adjusted P=0.016),rs1050700 (TSC1) (x2 =9.313,P=0.002,adjusted P=0.016),rs2072314(TSC2) (P＜0.01,adjusted P＜0.01) and rs8063461 (TSC2) (P＜0.01,adjusted P＜0.01)showed significant difference between two groups (P＜0.05).The genotype frequencies of rs2072314(TSC2)and rs8063461(TSC2) showed significant difference between two groups(P＜0.05).Moreover,the frequency of haplotype A-G (OR =14.548,95％ CI =5.450-38.830) in the haplotype block rs2809244-rs3761840 showed significant difference between two groups(P＜0.05),A-G significantly increases the risk of autism.The frequencies of haplotype A-A (OR=0.608,95％ CI =0.409-0.903,P=0.013),G-A (OR=7.812,95％ CI =5.338-11.459,P＜0.01)and G-G (OR=0.356,95％ CI =0.274-0.463,P＜0.01) in the haplotype block rs2074969-rs8063461 were identified,which were significant difference between two groups(P＜0.05),and AA and G-G significantly reduced but G-A increased the risk of autism.Conclusion The polymorphisms of TSC1 and TSC2 genes might associate with autism in Chinese Han population.