Roles of PIK3R1 gene in development of hepatocellular carcinoma / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To investigate the roles of phosphatidylinositol 3 kinase regulatory subunit alpha (PIK3R1）gene in the development of hepatocellular carcinoma （HCC）.</p><p><b>METHODS</b>Surgical specimens of liver cancer and corresponding pericancerous liver tissue were collected from 20 patients with hepatocellular carcinoma. Expression of p85α, encoded by PIK3R1, in HCC tissue specimens was detected by Western blotting and immunohistochemistry. HCC HepG2 cells were transfected with PIK3R1 siRNA or PIK3R1-cDNA. The expression of PIK3R1 in transfected HepG2 cells or control cells were detected by real-time PCR. Cell proliferation was evaluated by MTT, colony formation assays and flow cytometry respectively. The expression of PI3K/AKT pathway-related proteins were detected by Western blotting.</p><p><b>RESULTS</b>The expression of p85α in liver tissue was higher than that in pericancerous tissues (1.27±0.58 vs 0.99±0.47，t=-3.25，P<0.05）. The expression of PIK3R1 was decreased by 0.19±0.03 fold in PIK3R1siRNA-transfected HepG2 cells(t=46.77，P<0.05)，and increased by 32.36±3.33 fold in PIK3R1 cDNA -transfected cells（t=-16.31， P<0.05）. MTT result showed that PIK3R1 siRNA inhibited growth of HepG2 cells （0.611±0.072 vs 0.807±0.059，t=3.65，P<0.05），while PIK3R1 cDNA increased the cell growth（0.937±0.060 vs 0.693±0.065，t=-4.78，P<0.05）. PIK3R1 siRNA transfected cells presented lower colony-forming efficiency than control group（3.8%±0.84% vs 15.0%±2.3%，t=7.92，P<0.05），while PIK3R1 cDNA transfected cells had higher colony-forming efficiency than control group (23.6%±3.4% vs 12.0%±1.5%，t=-5.40，P<0.05）. PIK3R1 siRNA reduced the ratio of S phase cells（13.9%±0.015% vs 32.9%±0.07%，t=45.97，P<0.01, while PIK3R1 cDNA increased S phase cells（56.33%±0.024% vs 31.94%±0.042%，t=-8.73，P<0.01）. PIK3R1 increased the level of p-AKT and decreased p53 level. CONCLUSION：p85α is highly expressed in HCC，and PIK3R1 gene may promote proliferation of HepG2 cells by activating PI3K/AKT pathway.</p>

Association study between schizophrenia and polymorphism of phosphoserine aminotransferase 1gene / 中华行为医学与脑科学杂志

ObjectiveTo detect the association between schizophrenia and polymorphism of phosphoserine aminotransferase 1 ( PSAT1 ) gene.MethodsThe study group included 158 patients with schizophrenia from Xi' an Mental Health Center and the control group included 316 parents.The polymorphism of rs69287125,rs137824326 of phosphoserine aminotransferase 1 gene was detected with PCR methods and SNP typing in all nucleus families by correlation analysis and haplotype relative risk analysis.ResultsThe rs69287125 allele was associated with schizophrenia (P=0.011 ),the G allele was protective factor (Z =-2.31 ) and the A allele was hazarding factor (Z =2.31 ).The rs137824326 allele was associated with schizophrenia (P=0.007 ),the G allele was protective factor ( Z =- 2.54) and the A allele was the hazarding factor( Z =2.54).The haplotypes of A/A and G/G in the rs69287125-rs137824326 were associated with schizophrenia (P =0.021,0.015,Z =2.16,- 1.85).ConclusionThe polymorphism of phosphoserine aminotransferase 1 gene is associated with schizophrenia in Chinese.

Association study of schizophrenia and ankyrin repeat and kinase domain containing 1 gene polymorphism / 中华行为医学与脑科学杂志

Objective To detect the genetic association between schizophrenia and polymorphism of Ankyrin repeat and kinase domain containing 1 ( ANKK1 ) gene. Methods Observed in a sample of 112 parent/offspring trios where the proband net the American Classification and diagnostic Criteria for Mental Disorders The Forth Revised Edition, criteria for schizophrenia using correlation analysis and haplotype relative risk analysis. The polymorphism of Ankyrin repeat and kinase domain containing 1 gene was detected with PCR methods and SNP typing in all nucleus families. Results The rs2734849 allele was connected with schizophrenia(P= 0. 026). Allele T was protective factor( Z= -2.19) and allele A was the hazard factor( Z=2. 19). The rs4938015,rs7118900 and rs1800497 allele were independence with schizophrenia. Three kinds haplotypes of G/A in the rs7118900 -rs2734849, A/C in the rs2734849 -rs1800497, G/A/C in the rs7118900 -rs2734849 -rs1800497 were associated with schizophrenia ( The P values were 0.032,0. 041,0.046, the genotype frequencies were 0. 36,0.29,0. 17 ).Conclusion It shows an association between schizophrenia and the polymorphism at nucleotide of ankyrin repeat and kinase domain containing 1 gene in Chinese.

Association study of schizophrenia and phosphodiesterase 4B gene polymorphism / 中华行为医学与脑科学杂志

Objective To detect the genetic association between schizophrenia and polymorphism of phosphodiesterase 4B (PDE4B) gene. Methods Observed in a sample of 98 parent/offspring trios where the proband net the Amerecan Classification and diagnostic Criteria for Mental Disorders The Forth Revised Edition,criteria for schizophrenia using correlation analysis and haplotype relative risk analysis. The polymorphism of phosphodiesterase 4B gene was detected with PCR methods and SNP typing in all nucleus families. Results The rs2180335 al-lele was connected with schizophrenia (P = 0.02131). Allele A was protective factor (Z = -2. 184) and allele G was the hazard factor (Z = 2.184). The frequency of rs2180335 allele A was 0.452 and the allele G was 0.548. The rs1040716, rs 3767311 and rs472952 allele was independence with schizophrenia. Five kinds haplotypes of A/A in the rs2180335-rs3767311, A/A in the rs 3767311-rs472952, A/A/A in the rs2180335-rs3767311-rs472952,A/G/G/A and T/A/A/A in the rs1040716-rs2180335-rs3767311-rs472952 associated with schizophrenia (P values were 0. 028715,0. 034845,0. 024177,0. 023967,0. 010839,genotype frequencies were 0. 223, 0.223,0.127,0.081,0.073). Conclusion It shows an association between schizophrenia and the rs2180335 polymorphism at nucleotide of phosphodiesterase 4B gene in Chinese.