Correlation of abnormal topological properties of the white matter fibers connecting the left amygdale with psychogenic erectile dysfunction / 中华男科学杂志

Objective@#To explore the topological properties of the degree and strength of nodes in the binary and weighted brain white matter networks of the patients with psychogenic erectile dysfunction (pED) and analyze the changes of myelin integrity, number and length of the white matter fibers in the topological space.@*METHODS@#Diffusion tensor imaging data were obtained from 21 patients with pED and 24 healthy controls matched in sex, age, and years of education and subjected to preprocessing. The whole cerebral cortex was divided into 90 regions, followed by fiber tracking, construction of the binary and weighted white matter networks, and calculation of the node degrees and connectivity strengths in different brain regions. The property values were compared between the two groups using the two-sample t-test, the results were corrected by multiple testing correction, and the correlation of the property values with the erectile function of the patients was subjected to Pearson's correlation analysis.@*RESULTS@#Compared with the healthy controls, the pED patients showed significantly decreased node degree of the left triangular part of inferior frontal gyrus (IFG) (7.54±1.44 vs 5.95±1.28, t = －3.88, corrected P = 0.02), medial orbital part of superior frontal gyrus (SFG) (10.08±3.60 vs 6.29±3.30, t = －3.67, corrected P = 0.02), and amygdala (6.50±2.11 vs 4.29±1.31, t = －4.16, corrected P = 0.01) in the binary networks, as well as the connectivity strength of the left triangular part of IFG (2.50±0.68 vs 1.72±0.50, t = －4.35, corrected P = 0.01), medial orbital part of SFG (3.17±0.97 vs 2.08±1.10, t = －3.53, corrected P = 0.03), and amygdala (1.80±0.69 vs 1.11±0.39, t = －4.03, corrected P = 0.01) in the fractional anisotropy (FA) weighted networks. The node degree of the left amygdala was negatively correlated with the total score (r = －0.47,P = 0.04), second item score (r = －0.46, P = 0.03), and third item score of IIEF-5 (r = －0.45, P = 0.04) in the pED patients.@*CONCLUSIONS@#The myelin integrity of the white matter fibers in the left frontal lobe and amygdale is impaired in pED patients, which leads to the aberrant generation, processing and regulation of their emotions. The decreased pivotal role and importance of the white matter fibers connecting the left amygdale may be associated with pED.

Aberrant Global and Regional Topological Organization of the Fractional Anisotropy-weighted Brain Structural Networks in Major Depressive Disorder / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Most previous neuroimaging studies have focused on the structural and functional abnormalities of local brain regions in major depressive disorder (MDD). Moreover, the exactly topological organization of networks underlying MDD remains unclear. This study examined the aberrant global and regional topological patterns of the brain white matter networks in MDD patients.</p><p><b>METHODS</b>The diffusion tensor imaging data were obtained from 27 patients with MDD and 40 healthy controls. The brain fractional anisotropy-weighted structural networks were constructed, and the global network and regional nodal metrics of the networks were explored by the complex network theory.</p><p><b>RESULTS</b>Compared with the healthy controls, the brain structural network of MDD patients showed an intact small-world topology, but significantly abnormal global network topological organization and regional nodal characteristic of the network in MDD were found. Our findings also indicated that the brain structural networks in MDD patients become a less strongly integrated network with a reduced central role of some key brain regions.</p><p><b>CONCLUSIONS</b>All these resulted in a less optimal topological organization of networks underlying MDD patients, including an impaired capability of local information processing, reduced centrality of some brain regions and limited capacity to integrate information across different regions. Thus, these global network and regional node-level aberrations might contribute to understanding the pathogenesis of MDD from the view of the brain network.</p>

No association of -1438G/A polymorphism in promoter region of 5-HT2A receptor gene with antipsychotic agent-induced weight gain / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate whether the -1438G/A polymorphism in the promoter region of 5-HTR2A gene associates with the weight gain following antipsychotic agents (APS) acute treatment in schizophrenic patients.</p><p><b>METHODS</b>Eighty-four Chinese Han patients with schizophrenia at the first onset were recruited from among 70 nuclear families. The polymorphism of 5-HTR2A gene was determined with PCR-RFLP technique. Body weight was measured in the patients on admission after 10 weeks of treatment with risperidone or chlorpromazine.</p><p><b>RESULTS</b>There were no statistically significant differences in the distribution frequencies of genotype (chi2: 0.172, v1, P > 0.05) and allele (chi2: 0.121, v1, P > 0.05) of -1438G/A polymorphism of 5-HTR2A gene between subgroups (weight gain >or= 7% or < 7%). Likewise, there was no significant difference in weight gain between genotype groups. By means of transmission disequilibrium test and quantitative transmission disequilibrium test, no significant association between the -1438G/A polymorphism of 5-HTR2A gene and weight gain was observed.</p><p><b>CONCLUSION</b>5-HTR2A gene -1438G/A polymorphism was probably not associated with APS-induced weight gain in Chinese Han patients with schizophrenia in this study.</p>

Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study the function of 5 single nucleotide polymorphisms (SNPs) of the PRKCZ gene, a susceptibility gene for type 2 diabetes in Han population of North China, in the pathogenesis of the disease.</p><p><b>METHODS</b>Bioinformatic methods and reporter gene activity determination were used to analyze the function of the 5 SNPs.</p><p><b>RESULTS</b>The reporter gene activities of different alleles of 2 SNPs, rs427811 and rs809912, were obviously different, which implies that these 2 SNPs might be susceptibility loci of the disease.</p><p><b>CONCLUSION</b>The PRKCZ gene is further confirmed to be a susceptibility gene for type 2 diabetes in Han population of North China. Two SNPs in the gene play a role in the pathogenesis of the disease by affecting the expression level of PRKCZ gene.</p>

Linkage disequilibrium analysis of the single nucleotide polymorphisms in the PRKCZ gene / 中国医学科学院学报

<p><b>OBJECTIVE</b>To search for the disease-associated haplotype in the PRKCZ gene, a susceptibility gene for type 2 diabetes in Han population of North China, by case-control study and linkage disequilibrium (LD) analysis using single nucleotide polymorphisms (SNPs).</p><p><b>METHODS</b>SNPs located in the PRKCZ gene were chosen from public SNP domain by bioinformatic methods and single base extension (SBE) method was used to genotype the loci in 173 sporadic type 2 diabetes patients and 152 normal individuals to perform case-control study and LD analysis. Haplotype block were constructed in these populations.</p><p><b>RESULTS</b>Several SNPs in the PRKCZ gene were found to be associated with the disease. The SNPs formed different haplotype block pattern in case and control groups. The frequencies of the haplotypes formed by 5 SNPs were statistically different between the two groups.</p><p><b>CONCLUSION</b>The haplotype formed by 5 SNPs in the PRKCZ gene may be associated with type 2 diabetes in Han population of China, which is confirmed from statistics to be a susceptibility gene for the disease.</p>

The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China / 中国医学科学院学报

<p><b>OBJECTIVE</b>To probe the candidate susceptibility gene (s) of type 2 diabetes in the formal mapping region, 1p36.33-p36.23, in Han people of Northern China using single nucleotide polymorphisms (SNPs).</p><p><b>METHODS</b>23 SNPs located in 10 candidate genes in the mapping region were chosen from public SNP domain by bioinformatic methods and single base extension (SBE) method were used to genotype the loci in 192 sporadic type 2 diabetes patients and 172 normal individuals to perform case-control study.</p><p><b>RESULTS</b>Among the 23 SNPs, 8 were found to be common in Chinese population. There were statistically different in the allele frequency of 2 SNP, rs436045 in the protein kinase C/xi gene and rs228648 in Urotensin II gene between case and control groups.</p><p><b>CONCLUSIONS</b>The two SNP may be associated with type 2 diabetes in Han people of China, which makes base for further study of the relation between the genes they located with type 2 diabetes.</p>

Single nucleotide polymorphisms in CAPN10 gene of Chinese population and its correlation with type 2 diabetes mellitus in Han people of northern China / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the distribution of the single nucleotide polymorphisms (SNPs) in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus in Han people of Northern China.</p><p><b>METHODS</b>CAPN10 gene was sequenced to detect SNPs in 27 samples of different nationalities in China. 5 SNPs were genotyped with single-base extension (SBE) method to perform case-control study in 156 normal Han people of Northern China and 173 type 2 diabetes and the 3 positive loci reported in the article were performed haplotype analysis. One positive locus was also analyzed with transmission-disequilibrium test (TDT) and sib transmission-disequilibrium test (STDT) in 68 type 2 diabetes pedigrees (377 cases).</p><p><b>RESULTS</b>A total of 40 SNPs were identified in length of 8,936 bp, with an average of 1 in every 223 bp; The SNPs in CAPN10 gene did not distribute evenly and the SNPs in Chinese was different from that reported in American Mexicans. There was no significantly statistical difference in the allele frequency of the 5 SNPs between case and control (P > 0.05), and the haplotype frequencies in the two groups were not much different (P > 0.05). There was no positive results in TDT and STDT analysis (P > 0.05).</p><p><b>CONCLUSIONS</b>The SNP distribution of CAPN10 gene varies with different nationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility ones of type 2 diabetes mellitus in Han people of Northern China.</p>

Fine mapping of susceptibility genes loci within chromosome 1 in Chinese Han families with type 2 diabetes / 中国医学科学院学报

<p><b>OBJECTIVES</b>To confirm previous whole-genome scan results of mapping type 2 diabetes susceptibility genes in chromosome 1 in Northern Chinese Han population by conducting a new genome scan with both an enlarged number of type 2 diabetes families and a new set of microsatellite markers.</p><p><b>METHODS</b>A genome scan method was applied. After multiplexed PCR, electrophoreses, genescan and genotyping analysis, size informations for all loci were obtained, and a further study was done using both parametric and non-parametric linkage analysis to calculate the P-values and Z-values of these loci.</p><p><b>RESULTS</b>A total of 34 microsatellite markers distributed within 5 regions along chromosome 1 were surveyed, and 12,000 genotypes were screened. Evidence of linkage with diabetes was identified for 8 of the 34 loci (all the P-values of the 8 loci distributed in 3 regions were lower than 0.05, and the highest Z-value was 2.17). Interestingly, all the 5 markers at the P terminal 1p36.3-1p36.23 region, spanning a long range of 16.9 cM, suggested to be linked with the disease. The results of the other two regions were not consistent with the previous ones.</p><p><b>CONCLUSIONS</b>The study results have confirmed those gained in the previous genome-wide scan. The fact that all 5 loci at the P terminal region displayed linkage with diabetes suggests that more than 1 susceptibility gene may reside in this region.</p>

Single nucleotide polymorphisms in CAPN10 gene of Chinese people and its correlation with type 2 diabetes mellitus in Han people of northern China / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To investigate the distribution of single nucleotide polymorphisms (SNPs) in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus in Han people of Northern China.</p><p><b>METHODS</b>CAPN10 gene was sequenced to detect SNPs in different nationalities of China. Five SNPs were chosen to perform case-control study and haplotype analysis in 156 normal Han people of Northern China and 173 type 2 diabetes. One SNP was also analyzed with transmission-disequilibrium test (TDT) and sib transmission-disequilibrium test (STDT) in 68 type 2 diabetes pedigrees (377 people).</p><p><b>RESULTS</b>A total of 40 SNPs were identified in length of 8,936 bp, with an average of 1 in every 223 bp. The SNPs in CAPN10 gene did not distribute evenly and the SNPs in Chinese were different from those reported in Mexican American. There was no significantly statistical difference in the allele frequency of the 5 SNPs between case and control, and the haplotype frequencies in the two groups were not significantly different. No positive results was found in TDT and STDT analysis.</p><p><b>CONCLUSIONS</b>The SNP distribution of CAPN10 gene differs in different nationalities. The studied SNPs in CAPN10 gene may not be the major susceptibility ones of type 2 diabetes mellitus in Han people of Northern China.</p>

Brain White Matter Fiber Change in Major Depression before and after Therapy:a Diffusion Tensor Imaging Study / 中国心理卫生杂志

Objective:To study the cognitive function and brain white matter fiber change in major depressive patients prior and post-treatment.Methods:Eleven major depressed patients were given antidepressants for 10 weeks, and their conditions were evaluated using 24-item Hamilton Depression Scale(HAMD).The cognitive function was determined by using Wisconsin Card Sorting Test(WCST),part of Wechsler memory scale and diffusion tensor ima- ging(DTI)was scanned before and after treatment.11 healthy people as control group were involved and given the same tests at the same time.Results:(1)The WCST scores of patients increased significantly after treatment(prior treatment Cc:1.6?1.6,Re:67.9?20.0,Rpe:51.5?24.8;post treatment Ce:4.0?2.1,Re:43.2?18.8,Rpe:22.8?16.0,P=0.001/0.000/0.003).There was no difference in number sequence memory in Wechsler memory scale.No difference was found between patients after treatment and control group in either WCST or number sequence memory.The patients made significant improvement in the total score of HAMD after treatment(16?14/54?13,t=6.60,P