Difference in brain surface area between first-episode familial and sporadic schizophrenia and its association with COMT gene polymorphisms / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association of impairment of surface area of first-episode schizophrenia(SZ) with polymorphisms of COMT gene, and the difference in the impaired patterns between familial patients with schizophrenia(FPS) and sporadic patients with schizophrenia(SPS).</p><p><b>METHODS</b>Ninety-eight patients with first-episode SZ(FPS=40, SPS=58) and 78 healthy controls were recruited. COMT gene was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Participants were scanned for 3.0T magnetic resonance images. Freesurfer software was used to analyze the difference in brain surface area between SZ and controls, its association with COMT genotypes, and the difference between SPS, FPS and control groups. Multiple tests were corrected using a Monte Carlo simulation at P<0.05.</p><p><b>RESULTS</b>Compared with controls, SZ showed decreased surface area in right occipital cortex and left prefrontal cortex. No association was found between COMT polymorphisms and whole brain area difference. Among the three subgroups, SPS showed smaller left prefrontal area compared with both FPS and control groups. Patients with SPS also showed significant area reduction in right occipital lobe compared with controls.</p><p><b>CONCLUSION</b>Surface area impairment can be found in those with first-episode SZ, but without association with COMT gene polymorphisms. The SPS have more severe area impairment than FPS, indicating that SPS and FPS may be attributed to different etiological mechanisms.</p>

A study on tridimensional personality characteristics of heroin dependence / 中华行为医学与脑科学杂志

Objective To test the reliability of the Chinese version of tridimensional personality questionnaire(TPQ) and to explore three-dimentional personality characteristics of heroin dependence. Methods Personality characteristics of 358 heroin dependers,114 male smoker and 200 normal controls were investigated using the TPQ. 78 heroin depender were examined 10 days later to test the reliability of TPQ.Results (1) Retest reliabilities of the three higher-order dimensions of the novelty seeking(NS),reward dependence(RD) and harm avoidance(HA) were all good( r =0.87,P <0.01;r =0.84,P <0.01,r =0.64,P <0.01).The dimension's Alpha split of NS or HA were 0.72 and 0.71,respectively. While RD's Alpha split was just 0.29. (2) NS was higher but not significantly in the heroin-dependenc group than normal controls(P =0.09),but the former had significantly higher HA and lower RD [(15.25±5.95) vs (13.22±6.27),t =13.65,P <0.01;(17.08±3.28) vs(18.29±3.83),t =15.07,P <0.01]. (3)There were significantly sex differences in all the three higher-order dimensions of TPQ in the heroin-dependence group( P <0.01). Male heroin dependers had significantly higher NS ,higher HA and lower RD than male controls[(16.99±4.76) vs(15.29±4.60), P =0.002;(14.46±6.01) vs (12.31±6.00),P =0.002],and male heroin dependers had significantly higher NS,lower RD than male smokers( P <0.001).Compared with female controls,female heroin dependers only had significantly higher HA.Conclusion Reliability of the TPQ is good. Sex difference in personality characteristics of heroin depender exits. Male heroin depender have high NS,high HA,and low RD,which can provide scientific data for early intervention of heroin dependence.

Examining the comorbidity of attention deficit and hyperactivity disorder and conduct disorder in a population-based twin sample / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To examine three possible causes of the relationship between attention deficit and hyperactivity disorder and conduct disorder: additive genetic factors(A), common environmental factors(C) and individual-specific environmental factors(E).</p><p><b>METHODS</b>One hundred and forty pairs of twins from the Southwestern China Twin Registry were examined with the parent-rated Strength and Difficulties Questionnaire (SDQ). The cross-twin within-variable, within-twin cross-variable and cross-twin cross-variable correlations were calculated. Using structural equation modelling, bivariate models were fitted. The best fitting model was chosen based on likelihood and parsimony.</p><p><b>RESULTS</b>The observed phenotypic correlation between HYPER and COND was 0.44 (95% CI: 0.09, 0.27), with genetic factors accounting for about 70% of the observed correlation. Bivariate model fitting quantified the genetic correlation between HYPER and COND at 0.76 (95% CI: 0.31, 1) and the individual-specific environmental correlation at 0.28 (95% CI: 0.02, 0.51).</p><p><b>CONCLUSION</b>In children, three different genetic factors may exist: one that solely affects the liability to hyperactivity behaviour, one that has only an effect on conduct behaviour and one that influences both hyperactivity and conduct behaviour. Our results suggests that most of the environmental factors that increase the risk of hyperactivity behaviour do not influence conduct behaviour and vice versa.</p>

Executive function in patients with mild traumatic brain injury / 中国神经精神疾病杂志

Background Patients often suffer from a few complications of neurological and psychiatric problems after traumatic brain injury including damage of cognition, mental disorders and behavior problems. Damage of cognition is a common sequela in traumatic brain injury. Numerous researchers were focus on the cognition changes of patients with mild brain injury. But their conclusions are debatable. Executive function is one of the important components of cognition. In this study,we tried to find out the executive functional alterations of the patients with mild brain injury.Methods 159 patients with brain injury caused by transportation events and 68 normal controls were assessed executive function. The executive function tests included the block design in WAIS, the Stroop test, the verbal fluency and the modified version of Wisconsin card sorting test (M-WCST). These tests were applied to compare the scores of traumatic brain injury patients with various severities including mild, moderate, and severe and with different CT/MRI results.Results Patients with mild head injury got significantly lower scores on all tests than normal controls ( P＜0.01 ). But there was no significant difference between mild and moderate brain injury group. Except Stroop test and WCST categories, patients with mild brain injury got significantly lower scores on all other tests than those with severe brain injury ( P ＜0.05). In the brain injury cases with damage signs on CT/MRI, there was no significant difference on scores of all tests except block design tests among brain injury patients with various severities. Among the brain injury cases without any damage signs on CT/MRI, there was no significant difference on scores of all tests among brain injury patients with various severities. The correlation analysis showed that scores of block design and verbal fluency test were negatively related to the severity of brain injury( P＜0.05). The age and the education level of the patients had negative and positive correlation, respectively, to executive function.Conclusions The executive function of patients with mild brain injury was impaired when the medication was terminated. We should pay more attention to patients with mild brain injury by performing various tests for assessment of disability.

No evidence for genetic association between alpha-2 macroglobulin I1000V polymorphism and sporadic Alzheimer's disease in two independent Chinese populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Alpha-2 macroglobulin (alpha2M) is a proteinase inhibitor found in association with senile plaques in Alzheimer's disease (AD). Also alpha2M has been implicated in several pathophysiological processes in AD. In view of the recent contradictory reports on the relationship between AD and a common polymorphism I1000V in A2M gene, the present authors studied a relatively large sample, determined the genotype of the I1000V polymorphism in A2M gene in sporadic AD patients and age-matched controls with normal cognition, and examined the possible association of the polymorphism with AD.</p><p><b>METHODS</b>Genotypes of A2M and apolipoprotein E (apoE) were detected by polymerase chain reaction combined with restriction fragment length polymorphism in 257 patients and 242 controls in Guangzhou, and 112 patients and 113 controls in Chengdu.</p><p><b>RESULTS</b>The 1000Val allele frequencies in the merged AD and control groups were 7.7% and 8.7%, respectively. The differences of allelic and genotypic frequencies between the patients and control subjects were not statistically significant, even after stratification by apoE epsilon4 status or by age-of-onset of the disease.</p><p><b>CONCLUSION</b>The results of this study revealed no association between the I1000V polymorphism of A2M and Chinese sporadic AD in Guangzhou and Chengdu.</p>

Molecular pharmacogenetic studies of drug responses to obsessive-compulsive disorder and six functional genes / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the associations between the drug responses to obsessive -pulsive disorder (OCD) and six functional genes related with serotonin and dopamine.</p><p><b>METHODS</b>One hundred and thirteen OCD nuclear families were collected. The OCD patients were treated with serotonin reuptake inhibitors (SRIs) for 8 weeks and the drug responses were assessed using the Yale-Brown obsessive-compulsive scale (Y-BOCS). The patients were divided into drug responders group and non-responders group according to the reducing rate of Y-BOCS score. The genotypes of six genes were determined with the Amp-FLP and Amp-RFLP techniques and analyzed by transmission disequilibrium test (TDT). The six genes are serotonin 2A receptor (5-HT2A), serotonin transporter (5-HTT), dopamine D2 receptor ( DRD2), dopamine D4 receptor (DRD4), catechol-O- methyltransferase (COMT) and monoamine oxidase A (MAOA).</p><p><b>RESULTS</b>No association was found between the six genes and different drug responses groups. However, there was significant difference between the drug responders and non-responders in homozygosity at the 5-HT2A -1438G/A locus (chi(2)=4.69, P=0.03).</p><p><b>CONCLUSION</b>The results suggested that the 5-HT2A may play some roles in the effects of drug treatment on OCD.</p>

Association study of heroin dependence and catechol-O-methyltransferase gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the relationship between heroin dependence and catechol-O-methyltransferase (COMT) gene.</p><p><b>METHODS</b>Genotype and allele frequencies of 108 val/met and 900 Ins C/Del C polymorphisms of COMT gene were examined in 313 heroin-dependent subjects and 214 normal controls.</p><p><b>RESULTS</b>No differences in genotype and allele frequencies of 108 val/met polymorphism of COMT gene were observed between heroin-dependent subjects and normal controls (genotype-wise: chi-square=1.67, P=0.43; allele-wise: chi-square=1.23, P=0.27). No differences in genotype and allele frequencies of 900 Ins C/Del C polymorphism of COMT gene were observed between heroin-dependent subjects and normal controls (genotype-wise: chi-square=3.73, P=0.16; allele-wise: chi-square=0.76, P=0.38).</p><p><b>CONCLUSION</b>The results suggested that neither 108 val/met polymorphism nor 900 Ins C/Del C polymorphism of COMT gene was associated with heroin dependence.</p>

Clinical analysis on intelligence and memory impairment of patients with brain injury during traffic accident / 中国法医学杂志

Objective To study the intelligence and memory impairment of patients with craniocerebral injury during traffic accident and its correlated factors. Method Data of psychological tests, eletroencepa-lograph (EEG) and brain image information of 652 subjects with brain injury who survived from traffic accident in Chengdu from Jan. 1,1999 to Dec. 31,2001 were collected and analysed. Results The average intelligence quotient (IQ) of patients in patients group was 77.85?15.97. 27.9 % patients's IQ was lower than 70. 51.9% patients's memory quotient (MQ) was lower than 51. The intelligence impairment was correlated with education level, left temporal lobe injury, three or more lobes of the brain injuried and EEG abnormality. Memory impairment was correlated with education level, interval between injury and e-valuation, brain stem injury, left temporal lobe injury, and EEG abnormality. Conclusion Impairment of intelligence and memory in different degrees were observed in most patients with traumatic brain injury during traffic accident. Intelligence and memory impairment were correlated with left temporal lobe injury, EEG abnormality, brain stem injury and education level.

Linkage disequilibrium study of microsatellite markers on chromosome 6 and schizophrenia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the relationship between the microsatellite markers on chromosome 6 and schizophrenia by linkage disequilibrium analysis.</p><p><b>METHODS</b>Twenty-eight microsatellite markers on chromosome 6 were evaluated in 115 affected-sib-pair and trios families. Linkage disequilibrium analysis was conducted according to diagnostic categories, Positive and Negative Syndrome Scale (PANSS) and other clinical data by XDT and MAPMAKER/SIBS software system.</p><p><b>RESULTS</b>Significant P value (P<0.005) was found in all the four diagnostic categories. Only the locus of D6S1960 showed positive P value (P<0.05) in all the subgroups divided by PANSS scale and the age of onset.</p><p><b>CONCLUSION</b>The area around D6S1960 in short arm of chromosome 6 may contain susceptibility gene of schizophrenia.</p>

Transmission disequilibrium test of DRD4 exon III 48bp variant number tandem repeat polymorphism and tic disorder / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate whether DRD4 exon III48 bp variant number tandem repeat(VNTR) polymorphism is associated with tic disorder.</p><p><b>METHODS</b>One hundred and twenty-two nucleus families were collected using Structured clinical interview for genetic study of Tourette syndrome and related disorders for family-based association analysis of tic disorder and DRD4 exon III 48bp VNTR polymorphism. One hundred and twenty-two trios were divided into two groups: tic disorder group (82 trios of Tourette syndrome or chronic tic disorder, TS&CT) and tic disorder accompanied with attention deficit and hyperactivity disorder (ADHD) group (40 trios of Tourette syndrome or chronic tic disorder accompanied with ADHD, TS&ADHD). Transmission disequilibrium test (TDT), in addition to polymerase chain reaction and VNTR technique were conducted in 122 trios.</p><p><b>RESULTS</b>There exist 5 alleles at this polymorphic locus in this sample including DRD4 exon III 48bp 2-6 repeats. No transmission disequilibrium was found between DRD4 exon III 48 bp VNTR and tic disorder (chi square=7.44, P 0.12); however, when the sample was divided into two groups, transmission disequilibrium was noticed between the cases of TS&ADHD and this locus by overall allele-wise analysis (chi square=11.74, P 0.02), and there exists transmission disequilibrium exclusively between 5 or 6 repeats of 48bp VNTR(longer alleles) by allele-wise analysis (chi square=10.57, P 0.032, chi square=6.13, P 0.01). No transmission disequilibrium was seen between TS&CT and DRD4 exon III 48bp VNTR(chi square=3.38, P 0.50).</p><p><b>CONCLUSION</b>The results of this study have revealed an association between the longer alleles of DRD4 exon III 48bp VNTR polymorphism and tic disorder accompanied with ADHD, thus suggesting a possible genetic risk factor of tic disorder accompanied with ADHD in Chinese.</p>

A linkage disequilibrium study of methylenetetrahydrofolate reductase C677T and schizophrenia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the relationship between the methylenetetrahy drofolate reductase (MTHFR) C677T missense mutation and schizophrenia by linkage disequilibrium study.</p><p><b>METHODS</b>Linkage disequilibrium analys is was conducted bet ween MTHFR C677T and schizophrenia in 115 affected-sib-pair (105) and trios (10) families by XDT and MAPMAKER/SIBS soft system. The analyses were performed in different diagnostic categories and combined with the age of onset as well.</p><p><b>RESULTS</b>No positive results were found in the analysis in all the family in all the four diagnostic categories. Significant P values, which were P<0.05, P<0.01 respectively, were observed in the families with the affected individual's onset age less than 25 years in all the four diagnostic categories.</p><p><b>CONCLUSION</b>The missense mutation of MTHFR C677T or other gene structure around this mutation may be one of the susceptibility gene of schizophrenia.</p>

A linkage analysis of quantitative trait loci for familial schizophrenia on chromosome 1 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular genetic relationship between chromosome 1 and quantitative trait loci for familial schizophrenia.</p><p><b>METHODS</b>A series of assessment scales included positive and negative syndrome scale (PANSS), global assessment of functional scale (GAFS), premorbid schizoid and schizotypal traits scale (PSST), premorbid social adjustment scale (PSA) were applied to quantify the phenotypes of schizophrenia. Non-parametric linkage analysis of quantitative traits was conducted in 32 multiplex pedigrees with schizophrenia by using 29 microsatellite makers on chromosome 1.</p><p><b>RESULTS</b>Haseman-Elston quantitative trait analysis detected a maximum Traditional H-E Lods of 1.73 and a maximum EH H-E Lods of 1.65 of negative symptoms (PANSS-N ) at 147.64 cM, which was overlapped to the positive region of 1q21-23 in qualitative linkage analysis.</p><p><b>CONCLUSION</b>The results suggest there might be an independent quantitative trait locus of negative symptoms on 1q21-23 for familial schizophrenia.</p>

Linkage analysis of susceptibility genes for familial schizophrenia on chromosome 1 in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular genetic relationship between chromosome 1 and susceptibility genes for familial schizophrenia in Chinese population.</p><p><b>METHODS</b>A genome scanning was conducted in 32 multiplex pedigrees from Chinese population by using 29 microsatellite markers on chromosome 1.</p><p><b>RESULTS</b>Multipoint parametric analysis detected a maximum heterogenicity Lod of 1.70 at 262.52 cM under a recessive model; multipoint non-parametric analysis detected a maximum non-parameter linkage (NPL) of 1.71 (P=0.046) at 262.52 cM, then 1.37 (P=0.086) at 149.70 cM, corresponding to marker D1S206 and D1S425 respectively.</p><p><b>CONCLUSION</b>These results give further supports to the presence of susceptibility genes on chromosome 1q for familial schizophrenia.</p>

Association study of heroin-dependence and -287 A/G polymorphism of catechol-O-methyltransferase gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the relationship between heroin-dependence and -287 A/G polymorphism of catechol-O-methyltransferase(COMT) gene.</p><p><b>METHODS</b>Genotype and allele frequencies of -287 A/G polymorphism of COMT gene were examined in 268 heroin-dependent subjects and 177 normal controls.</p><p><b>RESULTS</b>Weak but significant difference in genotype of -287 A/G polymorphism of COMT gene was observed between heroin-dependent subjects and controls (chi(2)=7.41, P=0.025), and genotype AA was higher in the former. The frequency of allele A of -287 A/G polymorphism of COMT gene was also significantly higher in heroin-dependent subjects than in the controls (chi(2)=5.69, P=0.017).</p><p><b>CONCLUSION</b>The results suggested that liability to heroin-dependence was associated with -287 A/G polymorphism of COMT gene.</p>

Cognitive Function and Quality of Life of Elderly in Beadhouse / 中国心理卫生杂志

Objective: To investigate relationship between cognitive function and quality of life of elderly living in beadhouses Method: 251 persons aged 55 or above living in three beadhouse for at least 1 year were assessed with GQOLI-74 (generic quality of life inventory-74), SAS (self-rating anxiety scale), CESD (center for epidemiologic studies depression scale), MMSE (mini mental state examination) and ADL (activity of daily living) Result: The elderly with low MMSE scores had lower scores in GQOLI-74 than that normal in MMSE assessment The quality of life correlated with depression and cognitive function Those in marriage had better life quality than those widowed Conclusion: Cognitive function is an important factor on quality of life of elderly living in beadhouses