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1.
Int J Behav Med ; 2024 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-38658437

RESUMO

BACKGROUND: We aimed to examine the associations between depressive symptoms and physical activity parameters (e.g., intensity, frequency, and duration) among Chinese school-aged children. METHOD: Participants in this study were extracted from the Tongji Mental Health Cohort Study. The baseline survey was conducted in June 2020 involving 2588 school-aged children from two primary schools in Hubei Province, China. A total of 2435 children were followed up successfully in December 2020. The Children's Depression Inventory Short Form (CDI-S) was applied to evaluate depressive symptoms among school-aged children. The Physical Activity Rating Scale-3 (PARS-3) was adopted to estimate children's physical activity parameters including the intensity, frequency, and duration. Generalized estimation equation models were used to explore the longitudinal associations between physical activity and depressive symptoms among school-aged children. RESULTS: Engaging in moderate levels of physical activity (OR, 0.800; 95%CI, 0.692-0.924) or high levels of physical activity (OR, 0.808; 95%CI, 0.689-0.947) in the baseline survey was associated with a reduced risk of developing depressive symptoms in the follow-up survey compared with children engaging in low levels of physical activity. Stratified analyses revealed that the associations between physical activity and depressive symptoms exhibited a significant correlation among boys and children in the older age group (11-12 years). Our findings showed that engaging in physical activity more than once a week, with each session lasting 20 min or longer, was related to significant reductions in depressive symptoms by 43.8% and 22.3%, respectively. CONCLUSION: Self-reported physical activity is positively associated with improved mental health among Chinese school-aged children, especially when considering parameters such as frequency and duration. The association between vigorous-intensity physical activity and depressive symptoms in children should be cautiously interpreted. Future research should continue to explore the effects of vigorous-intensity physical activity on depressive symptoms in children.

2.
Environ Geochem Health ; 45(10): 7405-7424, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36788152

RESUMO

This study investigated the sources, contamination and ecological risks of polycyclic aromatic hydrocarbons (PAHs) based on their spatiotemporal distribution in aquatic environment in the Wuhan section of the Yangtze River (WYR). The fugacity ratio evaluation indicated that sediment was secondary release sources of two- and three-ring PAHs and sinks of four- and five-ring PAHs. The total concentrations of PAHs (Σ16PAHs) ranged from 2.51 to 102.5 ng/L in water with the dominant contribution of 47.8% by two-ring PAHs. Σ16PAHs in sediments varied from 5.90 to 2926 ng/g with the contribution of 35.4% by four-ring PAHs. The higher levels of PAHs occurred around developed industrial areas during the wet season, which was related to local industrial emissions and influenced by rainfall/runoff. Annual flux of Σ16PAHs was estimated of 28.77 t. The PMF model analysis revealed that petroleum and industrial emissions were the dominant sources in water accounting for 58.5% of the total pollution, although traffic emission was the main source for sediment accounting for 44.6%. Risk assessments showed that PAHs in water were at low risks, whereas about 44% of the sediments were identified as medium risks. Therefore, energy structure adjustment and further implement of regulation and monitoring are necessary to reduce PAH emissions.


Assuntos
Hidrocarbonetos Policíclicos Aromáticos , Poluentes Químicos da Água , Hidrocarbonetos Policíclicos Aromáticos/análise , Rios/química , Monitoramento Ambiental , Poluentes Químicos da Água/análise , Sedimentos Geológicos/química , China
3.
Environ Sci Technol ; 56(20): 14439-14451, 2022 10 18.
Artigo em Inglês | MEDLINE | ID: mdl-36169941

RESUMO

This study conducted the first extensive and comprehensive investigation of the whole-scale sedimentary antibiotic concentration, possible drivers, environmental fate, and potential ecological risks in the Yangtze River. Totally, 20 antibiotics were detected in the sediments. Results revealed that the order of antibiotic abundance in sediment was fluoroquinolones > tetracyclines > macrolides > sulfonamides > amphenicols. The total antibiotic concentrations were 0.10-134.4 ng/g (mean: 11.88 ng/g). Of these, fluoroquinolones and tetracyclines were the two dominant antibiotic categories. The dominant occurrence of fluoroquinolones and tetracyclines in sediments suggested that the distribution coefficient (Kd) was one of the important factors to determine their fate. Correlation analysis demonstrated that antibiotic contamination was largely influenced by the local scale of animal husbandry, and the positive correlation between antibiotics and heavy metals was likely driven by their common source of contamination and the complexation. Environmental risk assessment showed that tetracycline and chlortetracycline exhibited potential risks from medium to high in the Yangtze River, although most of the compounds posed minimal and low risks. This work provided a valuable large-scale data set across the whole Yangtze River and revealed the contamination profile of antibiotics. Mitigation and management measures to reduce antibiotic inputs are needed for the Yangtze River basin.


Assuntos
Clortetraciclina , Poluentes Químicos da Água , Animais , Antibacterianos , Ásia , China , Cloranfenicol/análise , Clortetraciclina/análise , Monitoramento Ambiental/métodos , Fluoroquinolonas/análise , Sedimentos Geológicos/análise , Macrolídeos/análise , Medição de Risco , Rios , Sulfonamidas/análise , Tetraciclina , Tetraciclinas/análise , Poluentes Químicos da Água/análise
4.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(12): 1365-1370, 2022 Dec 15.
Artigo em Zh | MEDLINE | ID: mdl-36544420

RESUMO

OBJECTIVES: To study the mediating role of working memory between sleep quality and symptoms in children with attention deficit hyperactivity disorder (ADHD). METHODS: The cluster random sampling method was used to select 110 ADHD children and 124 normal children as subjects from grade 3-5 students in two primary schools in Kashgar, Xinjiang Uygur Autonomous Region, China. SNAP-IV, Pittsburgh Sleep Quality Index (PSQI), and visual-spatial working memory paradigm were used for investigation and comparison. RESULTS: Compared with the normal group, the ADHD group had a significantly higher total score of PSQI and scores of subjective sleep quality, sleep latency, sleep efficiency, sleep disturbance, and a higher incidence of sleep quality problems (P<0.001). The working memory score in the ADHD group was significantly lower than that in the normal group (P<0.001). In the ADHD group, the working memory score was negatively correlated with the total score of PSQI (rs=-0.271, P<0.001) and the score of symptoms (rs=-0.439, P<0.001), and the total score of PSQI was positively correlated with the score of symptoms (rs=0.540, P<0.001). Working memory had a partial mediating effect in the influence of sleep quality on symptoms in children with ADHD, accounting for 18.10% of the total effect. CONCLUSIONS: Sleep quality issues are observed in some children with ADHD, and working memory plays a mediating role between sleep quality and symptoms in ADHD children.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtornos do Sono-Vigília , Humanos , Criança , Memória de Curto Prazo , Qualidade do Sono , Transtornos do Sono-Vigília/etiologia , Estudantes
5.
Analyst ; 146(23): 7257-7264, 2021 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-34734932

RESUMO

Here, an Au-Cu dual-electrode tip was designed to monitor the effect of Cu2+ on the membrane permeability of a single living cell in situ using scanning electrochemical microscopy. The probe approach curves (PACs) were obtained using potassium ferricyanide as a redox mediator. Meanwhile, according to the simulation, theoretical PACs could be acquired. Thus, the cell membrane permeability coefficient (Pm) values were obtained by overlapping the experimental PACs with the theoretical values. Cu2+ was directly generated by electrolyzing the Cu electrode of the dual-electrode tip to investigate its effect on the cell membrane permeability in situ. This work has potential value to improve the understanding of the mechanism of acute heavy metal damage on the cell membrane and will also help clarify the role of heavy metal ions in physiological or pathological processes.


Assuntos
Microscopia Eletroquímica de Varredura , Permeabilidade da Membrana Celular , Eletrodos , Oxirredução , Permeabilidade
6.
BMC Endocr Disord ; 21(1): 123, 2021 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-34134685

RESUMO

BACKGROUND: Diabetes is a well-known risk factor for tuberculosis and poorly glycemic control may increase the risk of tuberculosis. We performed a meta-analysis to explore the association of glycemic control in diabetic patients and their tuberculosis prevalence. METHODS: We included observational studies that investigated the prevalence of tuberculosis associated with glycemic control. The markers of glycated hemoglobin A1c (HbA1c) and fasting plasma glucose were used to evaluate the exposure of interest in the study. We searched related articles in PubMed, EMBASE and Web of Science through 14 December 2019. The Newcastle-Ottawa scale was used to assess the risk of bias of included studies. RESULTS: Seventeen studies (four cohort studies, five case-control studies and eight cross-sectional studies) were included, involving 1,027,074 participants. The meta-analysis found the pooled odds ratio of prevalent tuberculosis increased a 2.05-fold (95%CI: 1.65, 2.55) for the patients with HbA1c ≥7.0% compared to those with HbA1c concentration < 7.0%. Furthermore, we found the mean of HbA1c was higher in the diabetes mellitus with tuberculosis group than the diabetes-only group (P = 0.002). In the sensitivity analysis, the finding remains consistent. CONCLUSION: Our study provides the evidence that poorly controlled diabetes in diabetics may be associated with increased prevalence of tuberculosis. More efforts should focus on screening tuberculosis in uncontrolled diabetes.


Assuntos
Biomarcadores/sangue , Complicações do Diabetes/epidemiologia , Diabetes Mellitus/fisiopatologia , Tuberculose/epidemiologia , Glicemia/análise , Complicações do Diabetes/sangue , Complicações do Diabetes/diagnóstico , Hemoglobinas Glicadas/análise , Humanos , Prognóstico , Fatores de Risco , Tuberculose/sangue , Tuberculose/diagnóstico
7.
Child Youth Serv Rev ; 120: 105735, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33235402

RESUMO

This study was aimed to investigate the knowledge, attitudes, and practices (KAP) towards coronavirus disease 2019 (COVID-19) among school-aged children in the Hubei province when children were being confined to their homes. The questionnaire included questions of KAP about COVID-19, depressive and anxiety symptoms scales. Multivariable generalized linear regressions models were applied to estimate the unstandardized regression coefficients (ß) of KAP. The awareness rates about COVID-19 were 70.1%-99.5% for all 1650 valid questionnaires. 37.2% of the participants quite worried about being infected with COVID-19. Approximately 96% of them washed hands in certain situations, while 85.6% of them washed hands after coughing or sneezing. Compared to the students without depressive symptoms, those who had depressive symptoms scored lower of total KAP, knowledge, attitudes, and practice. The findings suggest that primary students had a relatively good awareness of COVID-19 during the epidemic, as well as optimistic attitudes and appropriate practices. However, some items of appropriate practices still needed to be enhanced.

8.
Anal Bioanal Chem ; 412(15): 3737-3743, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32363560

RESUMO

Extracellular pH can indicate the variation in organelle function and cell state. It is important to measure extracellular pH (pHe) with a controllable distance. In this work, a potentiometric SECM dual-microelectrode was developed to monitor the pHe of MCF-7 cells under electrical stimulation. The distance between the dual-microelectrode and the cells was determined first with a gold microelectrode by recording the approaching curve, and the pH was determined using an open-circuit potential (OCP) technique with a polyaniline-modified Pt microelectrode. The pH microelectrode showed a response slope of 53.0 ± 0.4 mV/pH and good reversibility from pH 4 to pH 8, fast response within 10 s, and a potential drift of 1.13% for 3 h, and thus was employed to monitor the pHe of stimulated cells. The value of pHe decreased with the decrease in the distance to cells, likely due to the release of H+. With an increase in the stimulation potential or time, the pHe value decreased, as the cell membrane became more permeable, which was verified by fluorescence staining of calcein-AM/PI (propidium iodide). Based on these results, this method can be widely applied for determining the species released by biosystems at a controllable position.


Assuntos
Técnicas Biossensoriais/instrumentação , Espaço Extracelular/química , Potenciometria/instrumentação , Neoplasias da Mama/química , Estimulação Elétrica , Feminino , Humanos , Concentração de Íons de Hidrogênio , Células MCF-7 , Microeletrodos
9.
Environ Res ; 191: 110207, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32937172

RESUMO

BACKGROUND: Zinc is an essential trace element and a number of studies have identified the importance of zinc in neurodevelopment in children. However, epidemiologic data on the associations of zinc and genetic susceptibility with the risk of dyslexia are limited. We aimed to investigate whether genetic polymorphisms in GRIN2B genes modify the association between zinc levels and dyslexia risk. METHODS: A case-control study of 240 dyslexic children and 230 healthy controls was conducted in Wuhan, Hangzhou and Jining city in China from April 2017 to April 2018. Zinc concentrations in urine samples were measured with inductively coupled plasma-mass spectrometry (ICPMS). Multiple imputation was used to impute missing values of covariates. We applied multivariable logistic regression models to evaluate the effect in the study. RESULTS: After adjustment for potential confounders, we observed the associations of urinary zinc with dyslexia risk were modified by rs1805502 (Pinteraction = 0.048) in gene GRIN2B. About 2-fold increase in creatinine-corrected zinc levels was significantly related to a reduced risk of dyslexia [odds ratio (OR) = 0.53, 95% confidence interval (CI): 0.29, 0.95 in rs1805502 mutation carriers]. CONCLUSIONS: The associations between zinc levels and dyslexia risk were modified by polymorphism of rs1805502 in gene GRIN2B.


Assuntos
Dislexia , Zinco , Estudos de Casos e Controles , Criança , China/epidemiologia , Cidades , Dislexia/epidemiologia , Dislexia/genética , Humanos , Polimorfismo Genético
10.
J Public Health (Oxf) ; 42(3): e189-e198, 2020 08 18.
Artigo em Inglês | MEDLINE | ID: mdl-31641762

RESUMO

Background Depressive symptoms and anxiety symptoms of adolescents not only affect youth but also have wide-ranging impacts on the health of adults. The study was carried out to determine the epidemiological characteristics of depressive symptoms and anxiety symptoms and the associations between the two and health-risk behaviors in Chinese adolescents. Methods Participants were recruited from the junior and senior high schools in China. Data were collected by self-designed questionnaires. The questionnaires included questions about demographic characteristics, depressive symptom scales, anxiety symptom scales and nine categories of health-risk behaviors. Descriptive analysis and binary logistic regression were performed by SPSS 21.0 software. Results There were 4.4% of the participants with depressive symptoms. Approximately 32.0% of the participants had anxiety symptoms. Girls and general senior school students were risk factors for depressive symptoms and anxiety symptoms. Multiple health-risk behaviors were associated with depressive symptoms and anxiety symptoms in Chinese adolescents. Conclusion Depressive symptoms and anxiety symptoms were prevalent in Chinese adolescents. Their distribution was affected by certain health-risk behaviors. Multiple health-risk behaviors were associated with depressive symptoms and anxiety symptoms in Chinese adolescents.


Assuntos
Ansiedade , Depressão , Adolescente , Adulto , Ansiedade/epidemiologia , China/epidemiologia , Depressão/epidemiologia , Feminino , Humanos , Assunção de Riscos , Instituições Acadêmicas , Inquéritos e Questionários
11.
Int J Mol Sci ; 21(3)2020 Feb 07.
Artigo em Inglês | MEDLINE | ID: mdl-32046212

RESUMO

Verticillium dahliae is a soil-borne hemibiotrophic fungus that can lead to plant vascular disease and significant economic loss worldwide. Its hosts include over 400 dicotyledon plant species, such as annual herbs, perennials, and woody plants. The average yield loss of cotton crop caused by Verticillium wilt is approximately 10-35%. As the control of this disease is an urgent task for many countries, further understanding of the interaction between plants and V. dahliae is essential. Fungi can promote or inhibit plant growth, which is important; however, the most important relationship between plants and fungi is the host-pathogen relationship. Plants can become resistant to V. dahliae through diverse mechanisms such as cell wall modifications, extracellular enzymes, pattern recognition receptors, transcription factors, and salicylic acid (SA)/jasmonic acid (JA)/ethylene (ET)-related signal transduction pathways. Over the last decade, several studies on the physiological and molecular mechanisms of plant resistance to V. dahliae have been undertaken. In this review, many resistance-related genes are summarised to provide a theoretical basis for better understanding of the molecular genetic mechanisms of plant resistance to V. dahliae. Moreover, it is intended to serve as a resource for research focused on the development of genetic resistance mechanisms to combat Verticillium wilt.


Assuntos
Resistência à Doença , Doenças das Plantas/genética , Verticillium/patogenicidade , Genes de Plantas , Doenças das Plantas/imunologia , Doenças das Plantas/microbiologia
12.
Am J Med Genet B Neuropsychiatr Genet ; 180(7): 488-495, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31264768

RESUMO

Genome-wide association studies (GWAS) of developmental dyslexia (DD) often used European samples and identified only a handful associations with moderate or weak effects. This study aims to identify DD functional variants by integrating the GWAS associations with tissue-specific functional data and test the variants in a Chinese DD study cohort named READ. We colocalized associations from nine DD related GWAS with expression quantitative trait loci (eQTL) derived from brain tissues and identified two eSNPs rs349045 and rs201605. Both eSNPs had supportive evidence of chromatin interactions observed in human hippocampus tissues and their respective target genes ZNF45 and DNAH9 both had lower expression in brain tissues in schizophrenia patients than controls. In contrast, an eSNP rs4234898 previously identified based on eQTL from the lymphoblastic cell lines of dyslexic children had no chromatin interaction with its target gene SLC2A3 in hippocampus tissues and SLC2A3 expressed higher in the schizophrenia patients than controls. We genotyped the three eSNPs in the READ cohort of 372 cases and 354 controls and discovered only weak associations in rs201605 and rs4234898 with three DD symptoms (p < .05). The lack of associations could be due to low power in READ but could also implicate different etiology of DD in Chinese.


Assuntos
Povo Asiático/genética , Dislexia/genética , Dineínas do Axonema/genética , Criança , Estudos de Coortes , Dislexia/metabolismo , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Fatores de Transcrição Kruppel-Like/genética , Masculino , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas/genética , Proteínas Repressoras/genética , População Branca/genética
13.
Nanotechnology ; 27(5): 055404, 2016 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-26752043

RESUMO

We develop an efficient approach to fabricate nitrogen-doped graphene with tunable pyridinic nitrogen levels (from 1.1 to 1.8 at.%), abundant in-plane holes and high surface areas (623 m(2) g(-1)) via a hydrothermal treatment of graphene oxide with hydrogen peroxide and subsequent annealing under ammonia gas. It is found that the chemical etching is beneficial to the formation of pyridinic nitrogen in graphene during the nitrogen-doping process, which is crucial to enhancing the electrocatalytic properties of graphene for oxygen reduction reaction (ORR). Hence, the optimized NG exhibits good electrocatalytic activity, more positive onset potential than Pt-C (-0.08 V versus -0.09 V), good durability, and high selectivity when it is employed as a metal-free catalyst for ORR. This approach may uncover a mechanism in escalation of pyridinic N atoms doped on the graphene basal edge and provide an efficient platform for the synthesis of a series of heteroatom-doped graphene with tunable heteroatom content for broad applications.

14.
Am J Med Genet B Neuropsychiatr Genet ; 171B(2): 203-8, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26452339

RESUMO

Increasing evidence suggests that there is a substantial heritable component including several risk loci and candidate genes for developmental dyslexia (DD). DIP2A has been identified to be partially deleted on chromosome region 21q22.3, which cosegregates with DD. And it fits into a theoretical molecular network of DD implicated in the development of DD. Compared with some DD candidate genes that have been extensively studied (e.g., DYX1C1, DCDC2, KIAA0319, and ROBO1), very little is known about the association between candidate gene DIP2A and DD susceptibility. And given the linguistic and genetic differences between Chinese and other Western populations, it is worthwhile validating the association of DIP2A in Chinese dyslexic children. Here, we investigated two genetic variants, selected by bioinformatics analysis, in DIP2A in a Chinese population with 409 dyslexic cases and 410 healthy controls. We observed a significantly increased DD risk associated with rs2255526 G allele (OR = 1.297, 95% CI = 1.036-1.623, Padjusted = 0.023) and GG genotypes (OR = 1.833, 95% CI = 1.043-3.223, Padjusted = 0.035), compared with their wild-type counterparts. In addition, it was marginally significantly associated with DD under the recessive model (OR = 1.677, 95% CI = 0.967-2.908, Padjusted = 0.066) and the dominant model (OR = 1.314, 95% CI = 0.992-1.741, Padjusted = 0.057). However, we found no evidence of an association of SNP rs16979358 with DD. In conclusion, this study showed that a genetic variant in the DIP2A gene was associated with increased DD risk in China.


Assuntos
Povo Asiático/genética , Proteínas de Transporte/genética , Dislexia/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas Nucleares/genética , Polimorfismo de Nucleotídeo Único/genética , Criança , Demografia , Feminino , Humanos , Masculino , Fatores de Risco
15.
Zhongguo Dang Dai Er Ke Za Zhi ; 18(12): 1308-1312, 2016 Dec.
Artigo em Zh | MEDLINE | ID: mdl-27974128

RESUMO

Developmental dyslexia in children is one of the neurodevelopmental disorders and is affected by various susceptible genes. In recent years, researchers have found some susceptible genes for dyslexia via chromosome analysis, genome-wide association studies, association analysis, gene function research, neuroimaging, and neurophysiological techniques. This article reviews the research advances in susceptible genes for developmental dyslexia, and with the study on susceptible genes for dyslexia, it lays a foundation for in-depth studies on the "gene-brain-behavior" level and provides scientific clues for exploring etiology and pathogenesis of dyslexia.


Assuntos
Dislexia/genética , Predisposição Genética para Doença , Criança , Proteínas do Citoesqueleto , Fatores de Transcrição Forkhead/genética , Humanos , Proteínas Associadas aos Microtúbulos/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Receptores Imunológicos/genética , Proteínas Roundabout
16.
Tumour Biol ; 35(3): 2649-54, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24414391

RESUMO

Recent publications have found associations between single-nucleotide polymorphisms (SNPs) in 8q24 and the risk of breast cancer (BC) in some populations, but the conclusions are inconsistent. In order to further investigate the association between variants in this region and BC risk in Chinese population, we conducted an independent hospital-based case-control study to discern the effects of these SNPs on BC risk. We genotyped three 8q24 SNPs (rs13281615, rs6983267, and rs9642880) in 485 cases and 530 cancer-free controls. The results indicated that the rs13281615 G allele significantly increased BC risk, with an odds ratio (OR) of 1.23 (95% confidence interval (CI) = 1.03-1.46) under the allelic model. Besides, stratification analysis reported that the significant association remained in the estrogen receptor (ER)+/progesterone receptor (PR)+ subgroup with a P value of 0.007 under the allelic model (OR = 1.33, 95% CI = 1.08-1.63). For the rs9642880 variant, only a feeble association was observed for the GT genotype compared with the GG genotype (OR = 1.33, 95% CI = 1.01-1.74). In addition, there was a negligible association between rs6983267 and BC risk in the ER-/PR- subgroup. However, no significant finding was observed in the overall participants. The findings suggested that polymorphisms in 8q24 may contribute to susceptibility to BC risk. However, functional studies are warranted to further elucidate the mechanisms of the association.


Assuntos
Povo Asiático/genética , Neoplasias da Mama/genética , Cromossomos Humanos Par 8/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase em Tempo Real
17.
Mol Biol Rep ; 41(3): 1591-5, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24398551

RESUMO

Autism spectrum disorder (ASD) is one of neurodevelopmental disorders with highly heritability. Recently, abnormality at the synapse is found to be important etiology of ASD. SHANK3 gene is suggested as a strong candidate gene for the pathogenesis of ASD, because it is essential for normally synaptic structure and function. We performed a case-control study to identify association between rs9616915 of the SHANK3 gene and ASD in a Chinese population. Genomic DNA was extracted from oral swabs samples of 212 patients and 636 controls and the SNP genotypes were determined by a polymerase chain reaction-restriction fragment length polymerase assay. Significant difference in genotype distribution of rs9616915 was observed between cases and controls by Pearson's χ(2) test (χ(2) = 6.92, P = 0.031). Genetic analysis of heterozygous model, dominant model and additive model showed an association of the C allele of the rs9616915 with ASD (e.g., additive model, OR 0.582, 95% CI 0.359-0.942, P = 0.028). In conclusion, our results suggested that this commonly genetic variant in SHANK3 gene strikingly decreased the risk of ASD in China.


Assuntos
Transtornos Globais do Desenvolvimento Infantil/genética , Predisposição Genética para Doença , Proteínas do Tecido Nervoso/genética , Idoso , Povo Asiático/genética , Estudos de Casos e Controles , Pré-Escolar , Feminino , Frequência do Gene , Estudos de Associação Genética , Genética Populacional , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único
18.
Genes Brain Behav ; 23(3): e12899, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38752599

RESUMO

Reading disorders (RD) are human-specific neuropsychological conditions associated with decoding printed words and/or reading comprehension. So far only a handful of candidate genes segregated in families and 42 loci from genome-wide association study (GWAS) have been identified that jointly provided little clues of pathophysiology. Leveraging human-specific genomic information, we critically assessed the RD candidates for the first time and found substantial human-specific features within. The GWAS candidates (i.e., population signals) were distinct from the familial counterparts and were more likely pleiotropic in neuropsychiatric traits and to harbor human-specific regulatory elements (HSREs). Candidate genes associated with human cortical morphology indeed showed human-specific expression in adult brain cortices, particularly in neuroglia likely regulated by HSREs. Expression levels of candidate genes across human brain developmental stages showed a clear pattern of uplifted expression in early brain development crucial to RD development. Following the new insights and loci pleiotropic in cognitive traits, we identified four novel genes from the GWAS sub-significant associations (i.e., FOXO3, MAPT, KMT2E and HTT) and the Semaphorin gene family with functional priors (i.e., SEMA3A, SEMA3E and SEMA5B). These novel genes were related to neuronal plasticity and disorders, mostly conserved the pattern of uplifted expression in early brain development and had evident expression in cortical neuroglial cells. Our findings jointly illuminated the association of RD with neuroglia regulation-an emerging hotspot in studying neurodevelopmental disorders, and highlighted the need of improving RD phenotyping to avoid jeopardizing future genetic studies of RD.


Assuntos
Dislexia , Estudo de Associação Genômica Ampla , Neuroglia , Humanos , Dislexia/genética , Neuroglia/metabolismo
19.
Mol Neurobiol ; 61(1): 42-54, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37578679

RESUMO

Attention-deficit hyperactivity disorder is a highly inherited neurodevelopmental disorder. Previous genetic research has linked ADHD to certain genes in the dopaminergic synaptic pathway. Nonetheless, research on this relationship has produced varying results across various populations. China is a multi-ethnic country with its own unique genetic characteristics. Therefore, such a population can provide useful information about the relationship between gene polymorphisms in dopaminergic synaptic pathways and ADHD. This study looked at the genetic profiles of 284 children in China's Xinjiang. In total, 142 ADHD children and 142 control subjects were enrolled. Following the extraction of DNA from oral mucosal cells, 13 SNPs for three candidate genes (SLC6A3, DRD2, and GRIN2B) in the dopaminergic synaptic pathway of ADHD were screened. Based on the results of single nucleotide polymorphism (SNP) analyses, we found that the DRD2 gene variants rs6277 and rs6275, and the SLC6A3 gene variant rs2652511, were significantly associated with ADHD in boys and girls, respectively, after adjusting for false discovery rate (FDR) in terms of allele frequencies. Furthermore, our generalized multifactorial downscaling approach identified a significant association between rs6275 and rs1012586. These findings suggest that DRD2 and SLC6A3 genes have a crucial role in ADHD susceptibility. Additionally, we observed that the interaction between GRIN2B and DRD2 genes may contribute to the susceptibility of Chinese children with ADHD.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Proteínas da Membrana Plasmática de Transporte de Dopamina , Receptores de Dopamina D2 , Receptores de N-Metil-D-Aspartato , Criança , Feminino , Humanos , Masculino , Transtorno do Deficit de Atenção com Hiperatividade/genética , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Proteínas da Membrana Plasmática de Transporte de Dopamina/genética , Receptores de Dopamina D2/genética , Receptores de N-Metil-D-Aspartato/genética
20.
Environ Pollut ; 344: 123362, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38237851

RESUMO

Organophosphates (OPPs), pyrethroids (PYRs), and neonicotinoids (NNIs) are three major classes of insecticides used worldwide. They might compromise child neurodevelopment. However, few studies have explored the association between exposure to them and dyslexia. The present study aimed to investigate the association between dyslexia and exposure to the three classes of insecticides, as well as explore the potential role of oxidative stress in the association. A total of 355 dyslexic children and 390 controls were included in this study. The exposure biomarkers were determined by liquid chromatography-tandem mass spectrometry. Specifically, the exposure biomarkers included three typical metabolites of OPPs, three of PYRs, and nine of NNIs. Additionally, three typical oxidative stress biomarkers, namely, 8-hydroxy-2'-deoxyguanosine (8-OHdG) for DNA damage, 8-hydroxyguanosine (8-OHG) for RNA damage, and 4-hydroxy-2-nonenal-mercapturic acid (HNEMA) for lipid peroxidation were measured. The detection frequencies of the urinary biomarkers ranged from 83.9% to 100%. Among the target metabolites of the insecticides, a significant association was observed between urinary 3,5,6-trichloro-2-pyridinol (TCPy, the metabolite of chlorpyrifos, an OPP insecticide) and dyslexia. After adjusting for potential confounding variables, children in the highest quartile of TCPy levels had an increased odds of dyslexia (odds ratio [OR], 1.68; 95% confidence interval [CI]: 1.03, 2.75] in comparison to those in the lowest quartile. Among the three oxidative stress biomarkers, urinary HNEMA concentration showed a significant relationship with dyslexia. Children in the highest quartile of HNEMA levels demonstrated an increased dyslexic odds in comparison to those in the lowest quartile after multiple adjustments (OR, 1.64; 95% CI: 1.01, 2.65). Mediation analysis indicated a significant effect of HNEMA in the association between urinary TCPy and dyslexia, with an estimate of 17.2% (P < 0.01). In conclusion, this study suggested the association between urinary TCPy and dyslexia. The association could be attributed to lipid peroxidation partially.


Assuntos
Clorpirifos , Dislexia , Inseticidas , Piretrinas , Criança , Humanos , Inseticidas/toxicidade , Piretrinas/toxicidade , Clorpirifos/toxicidade , Neonicotinoides , Estresse Oxidativo , Biomarcadores
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