Study on serum level of HTR1A promoter methylation in manic episode of bipolar disorder type Ⅰ / 中华行为医学与脑科学杂志

Objective To explore the correlation between the methylation level of 5-hydroxytryptamine receptor 1A(HTR1A) gene promoter region and severity of symptom in the manic epi-sode patients with bipolar disorder type Ⅰ(BD-Ⅰ). Methods Fifty six manic episode patients with BD-Ⅰand fifty nine healthy controls were randomly included in the study. The level of HTR1A gene promoter meth-ylation was measured with pyrosequencing technique in both manic episode patients with BD-Ⅰ and the healthy controls. The severity of symptoms was assessed with score of Bech-Rafaelsen Mania Rating Scale (BRMS) in patients with BD-Ⅰ. Pearson correlation analysis was employed to explore the correlation be-tween the serum level of HTR1A promoter methylation and score of BRMS in BD-Ⅰgroup. Results In-creased serum level of HTR1A gene promoter methylation was found in manic episode patients with BD-Ⅰ((66. 55±10. 55)%) compared with that in healthy controls((54. 03±8. 85)%)(P<0. 01). Positive corre-lation was found between the serum level of HTR1A gene promoter methylation and total score of BRMS in manic patient with BD-Ⅰ(r=0. 534,P<0. 01). Conclusion The current findings suggest that the serum level of HTR1A gene promoter methylation can be an epigenetic indicator for severity of manic symptom in BD-Ⅰ.

Association of single nucleotide polymorphisms in the promoter of GABAA receptor β2 subunit gene with schizophrenia / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the genetic association between schizophrenia and the polymorphism of GABA(A) receptor β2 subunit (GABRB2) gene.</p><p><b>METHODS</b>A population association analysis was performed of 5 single nucleotide polymorphisms (SNPs) in the proximal promoter of GABRB2 gene by PCR and sequencing of the genomic DNA in a cohort of 172 schizophrenics and 167 controls of Chinese Han nationality.</p><p><b>RESULTS</b>One out of the 5 SNPs, namely rs3811996, was found to be significantly associated with schizophrenia especially in the male cohorts, where the heterozygous genotypes (A/G) and minor allele G displayed lower frequencies in case group than in the controls.</p><p><b>CONCLUSION</b>We found a new risk, SNP rs3811996, for paranoia schizophrenia, which further supports the importance of genetic variations of GABRB2 in the etiology of schizophrenia.</p>

Differences of genome-wide methylation level and methylated genes be-tween nasopharyngeal carcinoma cells in same genetic background but different radiation resistance / 中国病理生理杂志

[ ABSTRACT] AIM:To compare the differences of the genome-wide methylation levels and methylated regions be-tween nasopharyngeal carcinoma ( NPC) cells in the same genetic background but different radiation resistance ( CNE-2 cells and CNE-2R cells).METHODS:Using the method which was developed by Doctor Zhao Cun-you, based on using methyl-sensitive restriction enzyme to measure the genome-wide methylation levels.In addition, MeDIP-Seq was used to analyze the methylated regions in 6 gene functional elements, including the upstream 2k sequence, 5’ UTR, coding se-quence, intron, 3’UTR and downstream 2k sequence, between CNE-2 cells and CNE-2R cells.RESULTS:The genome-wide methylation level was approximately 30%lower in CNE-2R cells than that in CNE-2 cells.No obvious difference on the amount of genes and the coverage of the peak in the 6 gene functional elements was observed.However, the methylation pattern of plentiful genes had altered in the gene function elements.CONCLUSION:The genome-wide methylation levels and methylated regions between NPC cells in the same genetic background but different radiation resistance were quite dif-ferent, indicating that the DNA methylation may be associated with NPC radioresistance.

Expression and clinical significance of phosphorylation of mammalian target protein of rapamycin in human glioma / 中国医师进修杂志

ObjectiveTo investigate the association of phosphorylation of mammalian target protein of rapamycin (pmTOR) expression with glioma malignancy grades,and the correlation of pmTOR expression with Survivin and Ki-67,which represent tumor cell anti-apoptosis ability and reproductive activity.MethodsImmunohistochemistry EliVision method was employed to detect the expression of pmTOR,Survivin and Ki-67 in paraffin tissues from 87 patients with glioma (grade Ⅰ - Ⅱ 27 cases,grade Ⅲ24 cases and grade Ⅳ 36 cases).The association between positive expression rate,level of pmTOR and malignancy grades,and the correlation of its expression level with Survivin and Ki-67 were further evaluated.Results There was no significant difference in the positive expression rate of pmTOR among grade Ⅰ - Ⅱ(77.8％,21/27),grade Ⅲ(75.0％,18/24) and grade Ⅳ (72.2％,23/36) (P ＞ 0.05).However,the significant association between pmTOR expression level and malignancy grades was observed.The expression from 87 patients with glioma was significantly positively correlated with Survivin and Ki-67 expression level (r =0.858,P ＜ 0.01 ;r =0.708,P ＜ 0.01 ).ConclusionsThe expression level of pmTOR is associated with malignancy grades,tumor cell anti-apoptosis ability and reproductive activity.pmTOR may be served as a useful marker for predicting the biological behavior of glioma and a useful target for gene therapy.