Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Nanotechnology ; 31(11): 115701, 2020 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-31766046

RESUMO

Motivated by the experimental synthesis of peanut-shaped carbon nanotubes (PSNTs) that combine the novel features of fullerene and carbon nanotubes (CNTs), we study the thermal conductivity of a PSNT (1dp08) and its response to different strains by using non-equilibrium molecular dynamics simulations and lattice dynamics together with density functional theory. We find that the thermal conductivity of the PSNT is reduced by more than 90% as compared to that of CNTs, and remains almost the same when different strains applied, exhibiting very different behaviors from that of CNTs, where the thermal conductivity decreases monotonically with the increase of strain. Through phonon mode calculations, we show that the reduced phonon group velocity, phonon lifetime and the vibrational mismatch are responsible for the low thermal conductivity of the PSNT, and the insensitive response of thermal conductivity to strain is due to the insensitivity of its phonon density of states and group velocity to strain. These features endow the PSNT with the potential applications in thermal devices, and add new features to one-dimensional carbon nanomaterials going beyond conventional CNTs.

2.
Small ; 16(2): e1905075, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31814261

RESUMO

Transition-metal phosphides have flourished as promising candidates for oxygen evolution reaction (OER) electrocatalysts. Herein, it is demonstrated that the electrocatalytic OER performance of CoP can be greatly improved by constructing a hybrid CoP/TiOx heterostructure. The CoP/TiOx heterostructure is fabricated using metal-organic framework nanocrystals as templates, which leads to unique hollow structures and uniformly distributed CoP nanoparticles on TiOx . The strong interactions between CoP and TiOx in the CoP/TiOx heterostructure and the conductive nature of TiOx with Ti3+ sites endow the CoP-TiOx hybrid material with high OER activity comparable to the state-of-the-art IrO2 or RuO2 OER electrocatalysts. In combination with theoretical calculations, this work reveals that the formation of CoP/TiOx heterostructure can generate a pathway for facile electron transport and optimize the water adsorption energy, thus promoting the OER electrocatalysis.

3.
Bioinformatics ; 36(1): 49-55, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31218360

RESUMO

MOTIVATION: Cell divisions start from replicating the double-stranded DNA, and the DNA replication process needs to be precisely regulated both spatially and temporally. The DNA is replicated starting from the DNA replication origins. A few successful prediction models were generated based on the assumption that the DNA replication origin regions have sequence level features like physicochemical properties significantly different from the other DNA regions. RESULTS: This study proposed a feature selection procedure to further refine the classification model of the DNA replication origins. The experimental data demonstrated that as large as 26% improvement in the prediction accuracy may be achieved on the yeast Saccharomyces cerevisiae. Moreover, the prediction accuracies of the DNA replication origins were improved for all the four yeast genomes investigated in this study. AVAILABILITY AND IMPLEMENTATION: The software sefOri version 1.0 was available at http://www.healthinformaticslab.org/supp/resources.php. An online server was also provided for the convenience of the users, and its web link may be found in the above-mentioned web page. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

4.
BMC Bioinformatics ; 20(Suppl 25): 691, 2019 Dec 24.
Artigo em Inglês | MEDLINE | ID: mdl-31874619

RESUMO

BACKGROUND: The association between BIN1 rs744373 variant and Alzheimer's disease (AD) had been identified by genome-wide association studies (GWASs) as well as candidate gene studies in Caucasian populations. But in East Asian populations, both positive and negative results had been identified by association studies. Considering the smaller sample sizes of the studies in East Asian, we believe that the results did not have enough statistical power. RESULTS: We conducted a meta-analysis with 71,168 samples (22,395 AD cases and 48,773 controls, from 37 studies of 19 articles). Based on the additive model, we observed significant genetic heterogeneities in pooled populations as well as Caucasians and East Asians. We identified a significant association between rs744373 polymorphism with AD in pooled populations (P = 5 × 10- 07, odds ratio (OR) = 1.12, and 95% confidence interval (CI) 1.07-1.17) and in Caucasian populations (P = 3.38 × 10- 08, OR = 1.16, 95% CI 1.10-1.22). But in the East Asian populations, the association was not identified (P = 0.393, OR = 1.057, and 95% CI 0.95-1.15). Besides, the regression analysis suggested no significant publication bias. The results for sensitivity analysis as well as meta-analysis under the dominant model and recessive model remained consistent, which demonstrated the reliability of our finding. CONCLUSIONS: The large-scale meta-analysis highlighted the significant association between rs744373 polymorphism and AD risk in Caucasian populations but not in the East Asian populations.

5.
Mol Ther Nucleic Acids ; 18: 590-604, 2019 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-31678735

RESUMO

Although our knowledge of human diseases has increased dramatically, the molecular basis, phenotypic traits, and therapeutic targets of most diseases still remain unclear. An increasing number of studies have observed that similar diseases often are caused by similar molecules, can be diagnosed by similar markers or phenotypes, or can be cured by similar drugs. Thus, the identification of diseases similar to known ones has attracted considerable attention worldwide. To this end, the associations between diseases at the molecular, phenotypic, and taxonomic levels were used to measure the pairwise similarity in diseases. The corresponding performance assessment strategies for these methods involving the terms "category-based," "simulated-patient-based," and "benchmark-data-based" were thus further emphasized. Then, frequently used methods were evaluated using a benchmark-data-based strategy. To facilitate the assessment of disease similarity scores, researchers have designed dozens of tools that implement these methods for calculating disease similarity. Currently, disease similarity has been advantageous in predicting noncoding RNA (ncRNA) function and therapeutic drugs for diseases. In this article, we review disease similarity methods, evaluation strategies, tools, and their applications in the biomedical community. We further evaluate the performance of these methods and discuss the current limitations and future trends for calculating disease similarity.

6.
Front Genet ; 10: 519, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31354783

RESUMO

Alzheimer's disease (AD) is a common neurodegenerative disease. APOE is the strong genetic risk factor of AD. The existing genome-wide association studies have identified many single nucleotide polymorphisms (SNPs) with minor effects on AD risk and the polygenic risk score (PRS) is presented to combine the effect of these SNPs. On the other hand, the volumes of various brain regions in AD patients have significant changes compared to that in normal individuals. Ch4 brain region containing at least 90% cholinergic neurons is the most extensive and conspicuous in the basal forebrain. Here, we investigated the relationship between the combined effect of AD-associated SNPs and Ch4 volume using the PRS approach. Our results showed that Ch4 volume in AD patients is significantly different from that in normal control subjects (p-value < 2.2 × 10-16). AD PRS, is not associated with the Ch4 volume in AD patients, excluding the APOE region (p-value = 0.264) and including the APOE region (p-value = 0.213). However, AD best-fit PRS, excluding the APOE region, is associated with Ch4 volume in normal control subjects (p-value = 0.015). AD PRS based on 8070 SNPs could explain 3.35% variance of Ch4 volume. In addition, the p-value of AD PRS model in normal control subjects, including the APOE region, is 0.006. AD PRS based on 8079 SNPs could explain 4.23% variance of Ch4 volume. In conclusion, PRS based on AD-associated SNPs is significantly related to Ch4 volume in normal subjects but not in patients.

7.
J Cell Physiol ; 234(12): 23176-23189, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31206665

RESUMO

Pancreatic cancer (PC) is a great health burden to patients owing to its poor overall survival rate. Long noncoding RNAs (lncRNAs) interact with microRNAs (miRs) to participate in tumorigenesis. Therefore, we aim to uncover the role and related mechanism of LINC00473 in PC through the modulation of miR-195-5p and programmed death-ligand 1 (PD-L1). Increased LINC00473 and PD-L1 but declined miR-195-5p were determined in PC tissues and cell lines, and it was found that LINC00473 mainly situated in the cytoplasm. Also, miR-195-5p was verified to bind with both LINC00473 and PD-L1. Next, with the aim to examine the ability of LINC00473, miR-195-5p, and PD-L1 on the PC progression, the expression of LINC00473, miR-195-5p and PD-L1 were altered with mimics, inhibitors, overexpression vectors or siRNAs in PC cells and cocultured CD8+ T cells. It was demonstrated that LINC00473 sponged miR-195-5p to upregulate PD-L1 expression. More important, the obtained results revealed that LINC00473 silencing or miR-195-5p upregulation elevated the expression of Bcl-2 associated X protein (Bax), interferon (IFN)-γ, and interleukin (IL)-4 but reduced the expression of B-cell lymphoma-2 (Bcl-2), matrix metalloproteinase (MMP)-2, MMP-9, and IL-10, thus inducing the enhancement of the apoptosis as along with the inhibition of proliferation, invasion, and migration of the PC cells. LINC00473 silencing or miR-195-5p elevation activated the CD8+ T cells. Taken together, LINC00473 silencing blocked the PC progression through enhancing miR-195-5p-targeted downregulation of PD-L1. This finding offers new therapeutic options for treating this devastating disease.

8.
Adv Sci (Weinh) ; 6(8): 1802005, 2019 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-31139557

RESUMO

Rational design of metal compounds in terms of the structure/morphology and chemical composition is essential to achieve desirable electrochemical performances for fast energy storage because of the synergistic effect between different elements and the structure effect. Here, an approach is presented to facilely fabricate mixed-metal compounds including hydroxides, phosphides, sulfides, oxides, and selenides with well-defined hollow nanocage structure using metal-organic framework nanocrystals as sacrificial precursors. Among the as-synthesized samples, the porous nanocage structure, synergistic effect of mixed metals, and unique phosphide composition endow nickel cobalt bimetallic phosphide (NiCo-P) nanocages with outstanding performance as a battery-type Faradaic electrode material for fast energy storage, with ultrahigh specific capacity of 894 C g-1 at 1 A g-1 and excellent rate capability, surpassing most of the reported metal compounds. Control experiments and theoretical calculations based on density functional theory reveal that the synergistic effect between Ni and Co in NiCo-P can greatly increase the OH- adsorption energy, while the hollow porous structure facilitates the fast mass/electron transport. The presented work not only provides a promising electrode material for fast energy storage, but also opens a new route toward structural and compositional design of electrode materials for energy storage and conversion.

9.
Mol Cell Endocrinol ; 493: 110424, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-30991076

RESUMO

Pancreatic cancer is a serious malignancy accompanied by a well-documented poor prognosis. Accumulating studies have indicated the crucial roles played by long non-coding RNAs (lncRNAs) in proliferation, apoptosis and invasion of cancer cells. The aim of the current study was to investigate the role of lncRNA LINC01207 in autophagy and apoptosis of pancreatic cancer cells and its regulatory mechanism interacting with miR-143-5p. Initially, expression profiles of lncRNAs and genes associated with pancreatic cancer were identified. The expression patterns of LINC01207, miR-143-5p and AGR2 in both pancreatic cancer and adjacent tissues were then determined. The binding relationship of LINC01207 to miR-143-5p and targeting relationship of miR-143-5p to AGR2 were subsequently verified. Silencing of LINC01207, or up-regulation or down-regulation of miR-143-5p was introduced into the pancreatic cancer cells, so as to analyze their effects on the cell growth, apoptosis and autophagy. Besides, these regulatory effects were further explored with the determination of the autophagy- and apoptosis-related gene or proteins. LINC01207 and AGR2 were highly expressed while miR-143-5p was poorly expressed in pancreatic cancer. Functionally, LINC01207 can bind to miR-143-5p, and AGR2 was a target gene of miR-143-5p. Importantly, silencing of LINC01207 down-regulated the expression of AGR2 by up-regulating miR-143-5p. Moreover, silencing of LINC01207 and up-regulation of miR-143-5p promoted cell apoptosis and autophagy, corresponding to increased expression of autophagy- and apoptosis-related proteins, in addition to inhibited cell growth. Taken together, silencing of LINC01207 prevents the progression of pancreatic cancer by impairing miR-143-5p-targeted AGR2 expression, providing a potential target for pancreatic cancer treatment.

10.
11.
Nucleic Acids Res ; 47(D1): D140-D144, 2019 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-30380072

RESUMO

Long non-coding RNAs (lncRNAs) play crucial roles in regulating gene expression, and a growing number of researchers have focused on the identification of target genes of lncRNAs. However, no online repository is available to collect the information on target genes regulated by lncRNAs. To make it convenient for researchers to know what genes are regulated by a lncRNA of interest, we developed a database named lncRNA2Target to provide a comprehensive resource of lncRNA target genes in 2015. To update the database this year, we retrieved all new lncRNA-target relationships from papers published from 1 August 2014 to 30 April 2018 and RNA-seq datasets before and after knockdown or overexpression of a specific lncRNA. LncRNA2Target database v2.0 provides a web interface through which its users can search for the targets of a particular lncRNA or for the lncRNAs that target a particular gene, and is freely accessible at http://123.59.132.21/lncrna2target.

12.
J Vis Exp ; (140)2018 10 11.
Artigo em Inglês | MEDLINE | ID: mdl-30371672

RESUMO

Biomarker detection is one of the more important biomedical questions for high-throughput 'omics' researchers, and almost all existing biomarker detection algorithms generate one biomarker subset with the optimized performance measurement for a given dataset. However, a recent study demonstrated the existence of multiple biomarker subsets with similarly effective or even identical classification performances. This protocol presents a simple and straightforward methodology for detecting biomarker subsets with binary classification performances, better than a user-defined cutoff. The protocol consists of data preparation and loading, baseline information summarization, parameter tuning, biomarker screening, result visualization and interpretation, biomarker gene annotations, and result and visualization exportation at publication quality. The proposed biomarker screening strategy is intuitive and demonstrates a general rule for developing biomarker detection algorithms. A user-friendly graphical user interface (GUI) was developed using the programming language Python, allowing biomedical researchers to have direct access to their results. The source code and manual of kSolutionVis can be downloaded from http://www.healthinformaticslab.org/supp/resources.php.


Assuntos
Algoritmos , Biomarcadores/química , Humanos , Linguagens de Programação , Software
13.
J Mol Neurosci ; 66(1): 37-43, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30088171

RESUMO

Genetic association studies have identified significant association between the GAB2 rs2373115 variant and Alzheimer's disease (AD). However, it is unknown whether rs2373115 affects the regulation of nearby genes. Here, we evaluate the potential effect of rs2373115 on gene expression using multiple eQTL (expression quantitative trait loci) datasets from human brain tissues from the Mayo Clinic brain expression genome-wide association study (eGWAS), the UK Brain Expression Consortium (UKBEC), the Genotype-Tissue Expression (GTEx) project, and the Brain xQTL Serve. Our findings indicate that the rs2373115 C allele is associated with increased NARS2 expression, and both reduced and increased GAB2 expression in human tissues. Using a large-scale AD case-control expression dataset, we found increased GAB2 expression and reduced NARS2 expression in AD cases compared with controls. We believe that our findings provide important information regarding the rs2373115 variant and expression of nearby genes with respect to AD risk.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Doença de Alzheimer/genética , Aspartato-tRNA Ligase/genética , Encéfalo/metabolismo , Polimorfismo de Nucleotídeo Único , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Alelos , Aspartato-tRNA Ligase/metabolismo , Estudos de Casos e Controles , Humanos
14.
Nanoscale ; 10(28): 13767-13772, 2018 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-29995035

RESUMO

Two-dimensional (2D) SnSe is a very promising material for semiconducting devices due to its novel properties. However, the contact behavior between a 2D SnSe sheet and a three-dimensional (3D) metal surface shows an un-tunable Schottky barrier because of the metallization of the SnSe sheet induced by strong Fermi level pinning at the contact interface. In this work, we use graphene rather than 3D metals as the metal electrode which comes into contact with a single-layer SnSe sheet to form a van der Waals (vdW) heterojunction. Based on state-of-the-art theoretical calculations, we find that the intrinsic properties of the SnSe sheet are preserved and the Fermi level pinning is weakened because of the vdW interaction between the SnSe sheet and graphene. We further demonstrate that an Ohmic contact can be realized by doping graphene with boron or nitrogen atoms or using other high-work-function 2D metals such as ZT-MoSe2, ZT-MoS2, or H-NbS2 sheet as the electrode to reduce the Fermi level pinning, leading to a spontaneous hole injection from the electrode to the channel material. This study sheds light on how to tune the Schottky barrier height for better device performance.

15.
Comput Biol Med ; 99: 182-190, 2018 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-29936284

RESUMO

Endoscopy is becoming one of the widely-used technologies to screen the gastric diseases, and it heavily relies on the experiences of the clinical endoscopists. The location, shape, and size are the typical patterns for the endoscopists to make the diagnosis decisions. The contrasting texture patterns also suggest the potential lesions. This study designed a novel rotation-tolerant image feature, TriZ, and demonstrated the effectiveness on both the rotation invariance and the lesion detection of three gastric lesion types, i.e., gastric polyp, gastric ulcer, and gastritis. TriZ achieved 87.0% in the four-class classification problem of the three gastric lesion types and the healthy controls, averaged over the twenty random runs of 10-fold cross-validations. Due to that biomedical imaging technologies may capture the lesion sites from different angles, the symmetric image feature extraction algorithm TriZ may facilitate the biomedical image based disease diagnosis modeling. Compared with the 378,434 features of the HOG algorithm, TriZ achieved a better accuracy using only 126 image features.


Assuntos
Pólipos Adenomatosos/diagnóstico por imagem , Algoritmos , Endoscopia do Sistema Digestório , Gastrite/diagnóstico , Interpretação de Imagem Assistida por Computador/métodos , Neoplasias Gástricas/diagnóstico por imagem , Úlcera Gástrica/diagnóstico por imagem , Feminino , Humanos , Masculino
16.
J Alzheimers Dis ; 61(3): 1077-1088, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29332039

RESUMO

Large-scale genome-wide association studies have reported EPHA1 rs11767557 variant to be associated with Alzheimer's disease (AD) risk in the European population. However, it is still unclear how this variant functionally contributes to the underlying disease pathogenesis. The rs11767557 variant is located approximately 3 kb upstream of EPHA1 gene. We think that rs11767557 may modify the expression of nearby genes such as EPHA1 and further cause AD risk. Until now, the potential association between rs11767557 and the expression of nearby genes has not been reported in previous studies. Here, we evaluate the potential expression association between rs11767557 and EPHA1 using multiple large-scale eQTLs datasets in human brain tissues and the whole blood. The results show that rs11767557 variant could significantly regulate EPHA1 gene expression specifically in human whole blood. These findings may further provide important supplementary information about the regulating mechanisms of rs11767557 variant in AD risk.


Assuntos
Doença de Alzheimer/sangue , Doença de Alzheimer/genética , Receptor EphA1/sangue , Receptor EphA1/genética , Estudos de Casos e Controles , China , Expressão Gênica , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único , Medição de Risco
17.
BMC Med Genet ; 19(Suppl 1): 215, 2018 12 31.
Artigo em Inglês | MEDLINE | ID: mdl-30598082

RESUMO

BACKGROUND: Alzheimer's disease (AD) and Parkinson's disease (PD) are the top two common neurodegenerative diseases in elderly. Recent studies found the α-synuclein have a key role in AD. Although many clinical and pathological features between AD and PD are shared, the genetic association between them remains unclear, especially whether α-synuclein in PD genetically alters AD risk. RESULTS: We did not obtain any significant result (OR = 0.918, 95% CI: 0.782-1.076, P = 0.291) in MR analysis between PD and AD risk. In MR between α-synuclein in PD with AD risk, we only extracted rs356182 as the IV through a strict screening process. The result indicated a significant association based on IVW method (OR = 0.638, 95% CI: 0.485-0.838, P = 1.20E-03). In order to examine the robustness of the IVW method, we used other three complementary analytical methods and also obtained consistent results. CONCLUSION: The overall PD genetic risk factors did not predict AD risk, but the α-synuclein susceptibility genetic variants in PD reduce the AD risk. We believe that our findings may help to understand the association between them, which may be useful for future genetic studies for both diseases.


Assuntos
Doença de Alzheimer/genética , Proteínas do Tecido Nervoso/genética , Doença de Parkinson/genética , Polimorfismo de Nucleotídeo Único , alfa-Sinucleína/genética , Idoso , Alelos , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/fisiopatologia , Feminino , Expressão Gênica , Frequência do Gene , Estudo de Associação Genômica Ampla , Humanos , Masculino , Análise da Randomização Mendeliana , Razão de Chances , Doença de Parkinson/diagnóstico , Doença de Parkinson/fisiopatologia , Fatores de Risco
18.
Cancer Immunol Res ; 5(7): 524-534, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28619967

RESUMO

The American Joint Committee on Cancer (AJCC) staging system is insufficiently prognostic for operable gastric cancer patients; therefore, complementary factors are under intense investigation. Although the focus is on immune markers, the prognostic impact of a single immune factor is minimal, due to complex antitumor immune responses. A more comprehensive evaluation may engender more accurate predictions. We analyzed immune factors by immunohistochemical staining in two independent cohorts. The association with patients' survival was analyzed by the Kaplan-Meier method. Our immunoscore system was constructed using Cox proportional hazard analysis. PD-L1+ immune cells (IC), PD-L1+ tumor cells (TC), PD-1hi, and CD8More were found among 33.33%, 31.37%, 33.33%, and 49%, respectively, of patients from the discovery cohort, and 41.74%, 17.4%, 38.26%, and 30.43% from the validation cohort. PD-L1+ ICs and PD-1hi ICs correlated with poorer overall survival (OS), but PD-L1+ TCs correlated with better OS and clinical outcomes and infiltration of more CD8+ T cells. These four factors were independently prognostic after tumor/lymph nodes/metastasis (TNM) stage adjustment. An immunoscore system based on hazard ratios of the four factors further separated gastric cancer patients with similar TNM staging into low-, medium-, or high-risk groups, with significantly different survival. Our prognostic model yielded an area under the receiver operating characteristic curve (AUC) of 0.856 for prediction of mortality at 5 years, superior to that of TNM staging (AUC of 0.676). Thus, this more comprehensive immunoscore system can provide more accurate prognoses and is an essential complement to the AJCC staging system for operable gastric cancer patients. Cancer Immunol Res; 5(7); 524-34. ©2017 AACR.


Assuntos
Biomarcadores Tumorais/imunologia , Prognóstico , Neoplasias Gástricas/imunologia , Adulto , Idoso , Antígeno B7-H1/imunologia , Linfócitos T CD8-Positivos/imunologia , Feminino , Humanos , Estimativa de Kaplan-Meier , Metástase Linfática/imunologia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Receptor de Morte Celular Programada 1/imunologia , Modelos de Riscos Proporcionais , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patologia
19.
Neurol Sci ; 38(7): 1255-1262, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28429084

RESUMO

In 2006, a candidate gene study reported death-associated protein kinase 1 (DAPK1) rs4878104 variant to be significantly associated with Alzheimer's disease (AD) risk. However, the following studies showed inconsistent association results. Here, we conducted an updated analysis to investigate the potential association between rs4878104 and AD using a total of 60,751 samples (20,161 AD cases and 40,590 controls). In the pooled population, the results based on the allele and genotype genetic models show that rs4878104 variant is not significantly associated with AD risk. Interestingly, we identified rs4878104 variant to be significantly associated with AD risk in American population and Chinese population in subgroup analysis. Using multiple large-scale expression quantitative trait loci datasets, we further found that rs4878104 T allele could significantly regulate increased DAPK1 expression in European population. These findings suggest that rs4878104 may contribute AD susceptibility by modifying DAPK1 expression in European population.


Assuntos
Doença de Alzheimer/genética , Proteínas Quinases Associadas com Morte Celular/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Alelos , Proteínas Reguladoras de Apoptose/genética , Grupo com Ancestrais do Continente Asiático/genética , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Humanos , Masculino , Risco
20.
J Neurol Sci ; 375: 18-22, 2017 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-28320126

RESUMO

A genome-wide association study identified GAB2 rs2373115 to be associated with Alzheimer's disease (AD) risk in European population. However, inconsistent results are reported in East Asian population. Here, we performed an updated analysis using 65,704 samples including 20,982 AD cases and 44,722 controls. First, we investigated the GAB2 rs2373115 variant in Asian population using 3974 AD cases and 7568 controls. To further evaluate the effect of rs2373115 in different populations, we selected 17,008 AD cases and 37,154 controls in European population. We used three genetic models, and found no significant heterogeneity in Asian population. A fixed effect model analysis showed no significant association between rs2373115 and AD in Asian population. There was no significant heterogeneity in the pooled East Asian and European populations. The fixed effect model analysis again showed no significant association between rs2373115 and AD in these pooled populations. Taken together, these findings suggest that GAB2 rs2373115 may contribute to AD susceptibility only in European population but not in East Asian population.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Doença de Alzheimer/genética , Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único/genética , Doença de Alzheimer/epidemiologia , Grupo com Ancestrais do Continente Asiático/genética , Bases de Dados Bibliográficas/estatística & dados numéricos , Europa (Continente)/epidemiologia , Grupo com Ancestrais do Continente Europeu/genética , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Metanálise como Assunto
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA