Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 201.988
Filtrar
1.
Cancer Res ; 79(19): 4808-4810, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31575627

RESUMO

In this issue of Cancer Research, Wang and colleagues identify a large number of regulatory sites within the genomes of non-small cell lung cancers with a global scan for open chromatin (assaying for transposase-accessible chromatin with sequencing). They show that this type of profiling might substitute RNA sequencing in classifying lung cancer samples and in making predictions about prognosis. They also show experimentally that genome editing of some regulatory sites upregulates the expression of GSTM1 and GSTT1, which are required for detoxification of carcinogens and whose low expression levels are associated with lung cancer risk.See related article by Wang et al., p. 4840.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Estudos de Casos e Controles , Genótipo , Humanos , Polimorfismo Genético
2.
Anticancer Res ; 39(10): 5375-5380, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31570432

RESUMO

BACKGROUND/AIM: Matrix metalloproteinases-11 (MMP-11) overexpression has been reported in various types of cancer including lung cancer. We aimed to examine the contribution of MMP-11 genotypes to lung cancer risk. MATERIALS AND METHODS: In this case-control study, the MMP-11 rs738791, rs2267029, rs738792 and rs28382575 genotypes were determined among 358 lung cancer patients and 716 age- and gender-matched healthy control Taiwanese. RESULTS: The percentages of rs738791 CT and TT were 50.6% and 9.2% in the case group, slightly higher than 48.5% and 8.1% in the control group (p for trend=0.5638). The allelic analysis showed that the rs738791 T allele did not confer lung cancer risk compared with the C allele. Similarly, there was no association between rs2267029, rs738792 or rs28382575 and lung cancer risk. There was no joint effect of MMP-11 genotypes among ever smokers or non-smokers. CONCLUSION: The genotypes of MMP-11 play a minor role in determining lung cancer risk in Taiwan.


Assuntos
Predisposição Genética para Doença/genética , Neoplasias Pulmonares/genética , Metaloproteinase 11 da Matriz/genética , Polimorfismo Genético/genética , Regiões Promotoras Genéticas/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Taiwan
3.
Exp Suppl ; 111: 21-27, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31588525

RESUMO

Increasing data about the human genome and associations between certain genetic regions with various conditions and diseases positioned human genetics at the top of the most emerging fields in medicine. Many diagnostics algorithms and therapeutical approaches used in everyday practice are based on genetic data. Molecular genetic diagnostics covered by this book uses genetic data obtained using germline DNA. In this book, the role of somatic mutation testing will be not covered; however, in many chapters, i.e., on hereditary tumor syndromes, the role of somatic mutations as the second hit for tumorigenesis will be mentioned. Genetic variants (genotypes) identified in germline DNA are responsible for transmission of diseases (phenotypes). This chapter will briefly summarize classical inheritance patterns. Most of the heritable human diseases are transmitted in an autosomal recessive way, but others, i.e., inherited tumor syndromes, follow the autosomal dominant pattern. Nomenclature used for pedigree analysis as well as the main features of inheritance patterns are also briefly reviewed.


Assuntos
Carcinogênese/genética , DNA , Padrões de Herança , Neoplasias/genética , Genótipo , Humanos , Linhagem
4.
Rev Soc Bras Med Trop ; 52: e20190304, 2019 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-31508787

RESUMO

INTRODUCTION: Human parvovirus B19 (B19V) is a common pathogen, which on infection causes variety of clinical conditions from benign self-limiting exanthematous disease and other similar pathologies to fetal death. METHODS: We collected 341 serum samples between the first and fourth day after the onset of symptoms from all patients suspected of dengue fever who were attended at Regional Hospital of Tefé. Initially, patients were screened for malaria by blood smear test and negative samples were sent to Fundação de Medicina Tropical Doutor Heitor Vieira Dourado (FMT-HVD) situated in Manaus (AM) for dengue testing using semi-nested multiplex PCR. Further, we investigated 44 malaria and dengue-negative samples of children for B19V DNA by nested-PCR. Positive samples were analyzed by BLAST against entire public non-redundant nucleotide database and genotyped by phylogenetic analyses using neighbor-joining clustering method. RESULTS: Eight samples (18.2%) were found to be PCR positive. Fever, headache, ocular pain, and/or muscle pain were reported as the most frequent symptoms by the patients and none were diagnosed with rash at the time of sample collection. Phylogenetic analysis of major capsid protein 2 (VP2) and VP3 coding region showed high similarity with B19V genotype 1. CONCLUSIONS: Our results reveal the spread of B19V genotype 1 in Tefé. Moreover, our results emphasize the significance of laboratorial differential diagnosis using molecular techniques in patients with acute febrile, and thereby aid the health surveillance system in improving patient care even in the remote areas of Amazon.


Assuntos
DNA Viral/sangue , Dengue/diagnóstico , Infecções por Parvoviridae/diagnóstico , Infecções por Parvoviridae/virologia , Parvovirus B19 Humano/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Filogenia , Reação em Cadeia da Polimerase , Adulto Jovem
5.
Zhonghua Liu Xing Bing Xue Za Zhi ; 40(8): 982-987, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31484265

RESUMO

Objective: To understand the distribution of HIV-1 genotypes and the status of drug resistance among people living with HIV who had prepared to initiate antiretroviral therapy (ART) in Dehong Dai and Jingpo autonomous prefecture (Dehong). Methods: A total of 170 adults with HIV were recruited in Dehong from January to June 2017, before initiating ART. HIV-1 pol genes were amplified and used to analyze the HIV-1 genotypes and drug resistance. Results: A total of 147 samples were successfully sequenced. Based on the phylogenetic analysis, 12 HIV-1 genotypes were found among the subjects, including three predominant genotypes such as subtype C (29.9%, 44/147), unique recombinant forms (URFs) (27.2%, 40/147) and CRF01_AE (19.7%, 29/147). Circulating recombinant forms (CRFs) which were newly identified in this area in recent years were also found among these subjects, including CRF62_BC, CRF64_BC, CRF86_BC and CRF96_cpx. The distribution of HIV-1 genotypes between heterosexual transmission or intravenous drug use, showed statistical difference. Surveillance drug resistance mutations (SDRMs) were found among 8.8% (13/147) of the subjects. Proportion of drug resistant strains among injecting drug users (25.0%, 8/32) was higher than that among those heterosexual transmitted individuals (4.6%, 5/109, χ(2)=10.166, P=0.002). Conclusions: Among people living with HIV-1 who had prepared to initiate ART, their HIV-1 genetics were highly complicated, with moderate prevalence rate of HIV-1 drug-resistant strains.


Assuntos
Fármacos Anti-HIV/uso terapêutico , Farmacorresistência Viral/genética , Infecções por HIV/tratamento farmacológico , Infecções por HIV/virologia , HIV-1/genética , Adulto , Análise do Polimorfismo de Comprimento de Fragmentos Amplificados , Fármacos Anti-HIV/farmacologia , Terapia Antirretroviral de Alta Atividade , China/epidemiologia , Genes pol , Genótipo , Infecções por HIV/epidemiologia , HIV-1/efeitos dos fármacos , Humanos , Filogenia
6.
Zhonghua Liu Xing Bing Xue Za Zhi ; 40(8): 997-1002, 2019 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-31484268

RESUMO

Objective: To explore the association between preeclampsia/eclampsia and maternal and fetal angiotensinogen SNPs. Methods: From January 2008 to October 2015, a case-parents/mother-control designed study was conducted among 347 preeclampsia/eclampsia cases and 700 controls to collect related information on their demographic characteristics and to detect the related angiotensinogen SNPs' genotypes. Both log-linear and unconditional logistic regression methods were employed to investigate the genetic effects of maternal/fetal angiotensinogen SNPs on preeclampsia/eclampsia. Multivariate binary unconditional logistic regression model and covariance were used to analyze the relationship between BMI before pregnancy, weight gain during pregnancy and overweight and obesity in preschool children. Results: Both fetal angiotensinogen rs3789679 GA and AA genotype were associated with the reduced risks of preeclampsia/eclampsia, with ORs as 0.73 (95%CI: 0.55-0.96) and 0.62 (95%CI: 0.39-0.98), respectively. For fetal angiotensinogen rs2493132, individuals that carrying the TT genotype, presented a positive association with the risk of preeclampsia/eclampsia, with OR as 1.60 (95%CI: 1.08-2.37). However, these associations were not statistically significant after the correction of the false discovery rate. It was observed that fetal rs3789679 could reduce the risk of preeclampsia/eclampsia (OR=0.73, 95%CI: 0.55-0.96) under the dominant model (GA+AA/GG) while fetal rs2493132 increased the risk of preeclampsia/eclampsia (OR=1.66, 95%CI: 1.13-2.44) under the recessive model (TT/CC+CT). Maternal rs5051 presented an association with preeclampsia/eclampsia (OR=1.33, 95%CI: 1.01-1.76) under the dominant model (TC+CC/TT). Conclusions: Results from the dominant model showed that both fetal rs3789679 GA and AA genotype reduced the risk of preeclampsia/eclampsia and maternal rs5051 TC while CC genotype increased the risk of preeclampsia/eclampsia. Fetal rs2493132 TT genotype seemed to be associated with the risk of preeclampsia/eclampsia under the recessive model.


Assuntos
Angiotensinogênio/genética , Eclampsia/genética , Polimorfismo de Nucleotídeo Único/genética , Pré-Eclâmpsia/genética , Angiotensinogênio/sangue , Estudos de Casos e Controles , Eclampsia/sangue , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Pré-Eclâmpsia/sangue , Gravidez , Cuidado Pré-Natal
7.
Rev Inst Med Trop Sao Paulo ; 61: e51, 2019 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-31531629

RESUMO

A drug resistance survey involving Mycobacterium tuberculosis isolated from patients of a tertiary Hospital in the Rio de Janeiro city (RJ), Brazil, between the years 1996 and 1998 revealed a high frequency of isoniazid (HR) resistance. These isolates were revisited and genotyped. Patients came from different RJ neighborhoods and municipalities, and 70% were outpatients. Applying the 3' and 5' IS 6110 -RFLP and the Spoligotype genotyping methods, the clonal structure of this population was investigated obtaining a snapshot of past epidemiological events. The 3' clusters were subsequently 5' IS 6110 -RFLP typed. Spoligotyping was analyzed in the SITVIT2 database. Epidemiological relationships were investigated. The major lineage was T (54.4%), and SIT 53/T1 and SIT 535/T1 were the most frequent. The T1 sublineage comprises 12.8% of resistant strains and SIT 535 were assigned for 31.8% of them. Orphan patterns corresponded to 12% and 73.3% and belonged to the T lineage. One pattern was unlisted in the SITVIT2. The 5' IS 6110 -RFLP did not confirm 3/12 of the 3' IS 6110 -RFLP clusters. A combination of all methods decreased the number of clusters to three. Nosocomial transmission was associated with one cluster involving a hospital cupbearer. This event was suspected in a multidrug resistant-TB inpatient caregiver who harbored a mixed infection. The 3' IS 6110 clusters were associated with HR (p=0.046). These genotypic retrospective data may reflect a fraction of more extensive recent transmission in different communities that may be corroborated by the concentration of HR patients, and may serve as a database for further evolutionary and characterization evaluation of circulating strains and together with epidemiological data favors a more effective transmission control.


Assuntos
Elementos de DNA Transponíveis/genética , Farmacorresistência Bacteriana/genética , Mycobacterium tuberculosis/genética , Tuberculose/microbiologia , Adolescente , Adulto , Técnicas de Tipagem Bacteriana , Brasil , DNA Bacteriano/genética , Feminino , Genótipo , Técnicas de Genotipagem , Humanos , Masculino , Mycobacterium tuberculosis/classificação , Mycobacterium tuberculosis/isolamento & purificação , Polimorfismo de Fragmento de Restrição , Estudos Retrospectivos
8.
Mem Inst Oswaldo Cruz ; 114: e190120, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31553370

RESUMO

BACKGROUND: In recent years, South America has suffered the burden of continuous high impact outbreaks of dengue, chikungunya and Zika. Aedes aegypti is the main mosquito vector of these arboviruses and its control is the only solution to reduce transmission. OBJECTIVES: In order to improve vector control it is essential to study mosquito population genetics in order to better estimate the population structures and the geneflow among them. METHODS: We have analysed microsatellites and knockdown resistance (kdr) mutations from a trans-border region in Amazonia between the state of Amapá (Brazil) and French Guiana (overseas territory of France), to provide further knowledge on these issues. These two countries have followed distinct vector control policies since last century. For population genetic analyses we evaluated variability in 13 well-established microsatellites loci in Ae. aegypti from French Guiana (Saint Georges and Cayenne) and Brazil (Oiapoque and Macapá). The occurrence and frequency of kdr mutations in these same populations were accessed by TaqMan genotype assays for the sites 1016 (Val/Ile) and 1534 (Phe/Cys). FINDINGS: We have detected high levels of gene flow between the closest cross-border samples of Saint-Georges and Oiapoque. These results suggest one common origin of re-colonisation for the populations of French Guiana and Oiapoque in Brazil, and a different source for Macapá, more similar to the other northern Brazilian populations. Genotyping of the kdr mutations revealed distinct patterns for Cayenne and Macapá associated with their different insecticide use history, and an admixture zone between these two patterns in Saint Georges and Oiapoque, in accordance with population genetic results. MAIN CONCLUSIONS: The present study highlights the need for regional-local vector surveillance and transnational collaboration between neighboring countries to assess the impact of implemented vector control strategies, promote timely actions and develop preparedness plans.


Assuntos
Aedes/efeitos dos fármacos , Aedes/genética , Resistência a Inseticidas/genética , Mosquitos Vetores/efeitos dos fármacos , Mosquitos Vetores/genética , Mutação/genética , Animais , Biodiversidade , Brasil , Guiana Francesa , Genótipo , Resistência a Inseticidas/efeitos dos fármacos
9.
Tumour Biol ; 41(9): 1010428319872092, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31486713

RESUMO

Angiogenesis, induced by the vascular endothelial growth factor A through its ligation to the vascular endothelial growth receptor 2, has been described as a crucial point in high-grade glioma development. The aim of this study was to evaluate the influence of VEGFA-2578C/A, -2489C/T, -1154G/A, -634G/C, and -460C/T, and KDR-604T/C, -271G/A, +1192G/A, and +1719A/T single-nucleotide polymorphisms on risk and clinicopathological aspects of high-grade glioma. This case-control study enrolled 205 high-grade glioma patients and 205 controls. Individuals with VEGFA-2578 CC or CA, VEGFA-1154 GG, VEGFA-634 GC or CC, and VEGFA-460 CT or TT genotypes were under 2.56, 1.53, 1.54, and 1.84 increased risks of high-grade glioma, compared to others, respectively. And 1.61, 2.66, 2.52, 2.53, and 2.02 increased risks of high-grade glioma were seen in individuals with VEGFA-2578 CC plus VEGFA-1154 GG, VEGFA-2578 CC or CA plus VEGFA-634 GC or CC, VEGFA-2578 CC or CA plus VEGFA-460 CT or TT, VEGFA-1154 GG or GA plus VEGFA-634 GC or CC, and VEGFA 634 GC or CC plus VEGFA-460 CT or TT combined genotypes, respectively, when compared to others. The "CAGT" haplotype of KDR single-nucleotide polymorphisms was more common in patients with grade IV than in those with grade III tumors, and individuals carrying this haplotype were at 1.76 increased risk of developing grade IV tumors than others. We present, for the first time, preliminary evidence that VEGFA-2578C/A and VEGFA-1154G/A single-nucleotide polymorphisms increases high-grade glioma risk, and "CAGT" haplotype of the KDR gene alters high-grade glioma aggressiveness and risk of grade IV tumors in Brazil.


Assuntos
Glioma/genética , Haplótipos , Polimorfismo de Nucleotídeo Único , Fator A de Crescimento do Endotélio Vascular/genética , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Fatores de Risco , Adulto Jovem
10.
J Assoc Physicians India ; 67(7): 43-48, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31559768

RESUMO

Aim: To delineate the genetic differences in polymorphism of the APOE and D2S439 marker genes for patients with and without rheumatoid arthritis and to study the distribution frequency of the prevalent alleles of these genes in clinically defined sub groups of patients/controls of Indian origin, specifically and their correlation with severity of disease using DAS score. Material and Methods: This is a case control study where peripheral blood samples 160 cases and 150 controls were collected. Results: We evaluated the association of the tetra nucleotide repeat microsatellite marker D2S439 lying at 231.27cM position on the q arm of chromosome-2. The alleles of this marker ranged in size from 163bp-203bp in PCR product length corresponding to 5-15 (CTAT)n tetra repeats. The allele frequencies for this marker in the North Indian population are different from the CEPH populations. The longer alleles, >199bp (=14 or 15 CTAT repeats) were not observed. The genotypes after bimodal distribution differ significantly among cases and controls (p=0.003). Statistically significant difference was seen between cases and controls for ≥(CTAT) 10 longer allele which was more prevalent in the adult RA cases than in controls. Severity of RA was defined by a DAS28 score of >6 on a scale of ten. No significant association was seen with the APOE polymorphism and disease severity. Conclusion: The long allele of D2S439 marker representing an expansion of the CTAT, tetranucleotide repeat doubles an individual's the risk for developing RA.


Assuntos
Apolipoproteínas E/genética , Artrite Reumatoide , Repetições de Microssatélites , Adulto , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Índice de Gravidade de Doença
11.
Dis Aquat Organ ; 135(3): 201-209, 2019 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-31486412

RESUMO

Viral hemorrhagic septicemia virus (VHSV) genotype IVa is an endemic pathogen to the marine waters of British Columbia, with numerous marine fishes being susceptible to infection and disease, including Atlantic salmon Salmo salar reared in open net-pen aquaculture. The susceptibility of Atlantic salmon and sockeye salmon Oncorhynchus nerka to VHSV-IVa infection was evaluated using exposure routes including injection, static immersion, and cohabitation with diseased Pacific herring Clupea pallasii. Exposed fish were monitored for mortality and external pathology, mortalities were tested by virus isolation assay, and live fish were regularly sampled and screened for infection. Among injected sockeye, VHSV was detected in 1 mortality (n = 195) and 2 sub-sampled fish (n = 30), whereas sockeye exposed by immersion and cohabitation did not experience mortality nor was systemic infection indicated by tissue screening. Injection and cohabitation exposure routes confirmed the susceptibility of Atlantic salmon to VHSV. Neither sockeye nor Atlantic salmon surviving the cohabitation served as a reservoir of VHSV, but Pacific herring did. The results suggest that VHSV-IVa poses low risk to sockeye salmon under natural routes of exposure.


Assuntos
Doenças dos Peixes , Septicemia Hemorrágica Viral , Novirhabdovirus , Animais , Aquicultura , Colúmbia Britânica , Genótipo
12.
An Acad Bras Cienc ; 91(3): e20180036, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31553363

RESUMO

This work aimed to determine variance components and genetic parameters, as well as phenotypic, genetic and environmental correlations among black oat (Avena strigosa) families grown in different crop season. Seventy-six black oat families and three controls (BRS Madrugada, BRS Centauro, BRS 139 Neblina) were evaluated in two crop seasons (2016 and 2017), using families with intercalary controls experimental design. The results reveled high potential of black oat families to compose a breeding program, due to families and controls variance were similar, variance components expressed greater genetic variance origin for crop season. Panicle weight and panicle grain weight presented high heritability and, these are correlated with panicle length. Thus, these traits can be used to select superior genotypes. Divergent meteorological conditions between crop seasons expressed few variations among phenotypic, genetic and environmental correlations, and it did not alter magnitude and sense of phenotypic and genetic correlations.


Assuntos
Avena/crescimento & desenvolvimento , Avena/genética , Produtos Agrícolas/crescimento & desenvolvimento , Produtos Agrícolas/genética , Variação Genética , Genótipo , Fenótipo , Estações do Ano
13.
Arch Virol ; 164(11): 2843-2848, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31494777

RESUMO

The Cooper and Los Angeles (LA) strains were the two original respiratory strains of bovine herpesvirus type 1.1 (BoHV-1.1) isolated in the 1950s from cattle with infectious bovine rhinotracheitis. We report the complete genome sequence for the BoHV-1.1 LA strain and compare it to the prototype Cooper strain and six wild-type BoHV-1.1 isolates. A nucleotide sequence divergence of 0.74% was noted across the two complete genomes, caused by 19 single-nucleotide polymorphisms (SNPs) involving 12 genes and insertions/deletions that primarily affected the number of repeats within reiterated repeat regions of the genome. Phylogenetic analysis revealed that Cooper and LA strains are genetically the most ancient strains from which all of the more-recently isolated field strains of BoHV-1.1 evolved.


Assuntos
Genoma Viral/genética , Infecções por Herpesviridae/veterinária , Herpesvirus Bovino 1/genética , Rinotraqueíte Infecciosa Bovina/virologia , Animais , Sequência de Bases , Bovinos , Doenças dos Bovinos/virologia , Genótipo , Herpesvirus Bovino 1/classificação , Polimorfismo de Nucleotídeo Único/genética , Análise de Sequência de DNA , Sequenciamento Completo do Genoma
14.
Anticancer Res ; 39(9): 4767-4773, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31519577

RESUMO

BACKGROUND/AIM: Rs3824129 is a functional six-nucleotide insertion(I)/deletion(D) polymorphism in the promoter region of caspase 8, an essential apoptosis gene. We aimed to examine the association of this polymorphism with the risk of bladder cancer in the Taiwanese population. MATERIALS AND METHODS: Caspase-8 rs3834129 genotypes were determined and their associations with bladder cancer risk were evaluated among 375 patients and 375 controls by the PCR-RFLP methodology. In addition, the interaction of caspase-8 rs3834129 genotypes with personal behaviors and clinicopathological features were examined. RESULTS: The frequencies of II, ID and DD genotypes for caspase-8 rs3834129 were non-differentially distributed between the two groups (p for trend=0.7187). Analysis of allelic frequency distribution also indicated that the D variant allele was not associated with a risk of bladder cancer. There was no obvious joint interaction between caspase-8 rs3834129 genotypes and smoking, alcohol consumption, and clinical stage and grade. CONCLUSION: Caspase-8 rs3834129 genotypes play a minor role in the personal susceptibility to bladder cancer in Taiwan.


Assuntos
Caspase 8/genética , Predisposição Genética para Doença , Genótipo , Neoplasias da Bexiga Urinária/genética , Adulto , Idoso , Alelos , Estudos de Casos e Controles , Linhagem Celular Tumoral , Feminino , Frequência do Gene , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Razão de Chances , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Taiwan , Neoplasias da Bexiga Urinária/patologia
15.
Anticancer Res ; 39(9): 4933-4940, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31519598

RESUMO

BACKGROUND: Interleukin 2 (IL2) is a significant factor activating T-cell-mediated immune response by stimulation of natural killer cells, T-cells and in development of regulatory T (Treg) cells. Recent studies have that IL2 participates in cancer development by modifying the local immune response. Based on the suggested role of the single nucleotide polymorphisms (SNPs) rs2069762, rs6822844 and rs11938795 of IL2 in the pathogenesis of certain diseases, the relationship of these SNPs with clinicopathological variables and their possible implication for prognosis and disease outcome were evaluated in a cohort of Swedish patients with colorectal cancer (CRC). MATERIALS AND METHODS: TaqMan SNP genotype assays based on polymerase chain reaction were used for analysis of the IL2 SNPs in 467 patients with CRC and 467 healthy controls. Expression analysis of IL2 in plasma and CRC tissue was also performed. RESULTS: The allelic variants T in rs11938795 and G in rs6822844 were significantly associated with a higher risk of CRC. Kaplan-Meier analysis showed that cancer-specific survival was worse for individuals with C allele for rs2069762 with stage II CRC and with T allele for rs6822844 with stage III CRC. CONCLUSION: SNPs rs2069762, rs6822844 and rs11938795 of the IL2 gene may be helpful as prognostic biomarkers in the follow-up and management of the patients.


Assuntos
Neoplasias Colorretais/genética , Neoplasias Colorretais/mortalidade , Variação Genética , Interleucina-2/genética , Adulto , Idoso , Alelos , Biomarcadores Tumorais , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/imunologia , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Imunomodulação , Interleucina-2/sangue , Interleucina-2/metabolismo , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Estadiamento de Neoplasias , Polimorfismo de Nucleotídeo Único , Prognóstico , Medição de Risco
16.
BMJ ; 366: l5021, 2019 09 10.
Artigo em Inglês | MEDLINE | ID: mdl-31506273

RESUMO

Human respiratory syncytial virus (RSV) belongs to the recently defined Pneumoviridae family, Orthopneumovirus genus. It is a negative sense, single stranded RNA virus that results in epidemics of respiratory infections that typically peak in the winter in temperate climates and during the rainy season in tropical climates. Generally, one of the two genotypes (A and B) predominates in a single season, alternating annually, although regional variation occurs. RSV is a cause of disease and death in children, older people, and immunocompromised patients, and its clinical effect on adults admitted to hospital is clarified with expanded use of multiplex molecular assays. Among adults, RSV produces a wide range of clinical symptoms including upper respiratory tract infections, severe lower respiratory tract infections, and exacerbations of underlying disease. Here we discuss the latest evidence on the burden of RSV related disease in adults, especially in those with immunocompromise or other comorbidities. We review current therapeutic and prevention options, as well as those in development.


Assuntos
Carga Global da Doença , Infecções por Vírus Respiratório Sincicial/epidemiologia , Vírus Sinciciais Respiratórios/genética , Infecções Respiratórias/epidemiologia , Adulto , Antivirais/uso terapêutico , Epidemias , Genótipo , Humanos , Hospedeiro Imunocomprometido , Imunoglobulinas Intravenosas/uso terapêutico , Infecções por Vírus Respiratório Sincicial/imunologia , Infecções por Vírus Respiratório Sincicial/terapia , Infecções por Vírus Respiratório Sincicial/virologia , Vírus Sinciciais Respiratórios/patogenicidade , Infecções Respiratórias/imunologia , Infecções Respiratórias/terapia , Infecções Respiratórias/virologia , Ribavirina/uso terapêutico , Estações do Ano
17.
Hum Genet ; 138(10): 1183-1200, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31471722

RESUMO

The glutamate pyruvate transaminase 2 (GPT2) gene produces a nuclear-encoded mitochondrial enzyme that catalyzes the reversible transfer of an amino group from glutamate to pyruvate, generating alanine and alpha-ketoglutarate. Recessive mutations in GPT2 have been recently identified in a new syndrome involving intellectual and developmental disability (IDD), postnatal microcephaly, and spastic paraplegia. We have identified additional families with recessive GPT2 mutations and expanded the phenotype to include small stature. GPT2 loss-of-function mutations were identified in four families, nine patients total, including: a homozygous mutation in one child [c.775T>C (p.C259R)]; compound heterozygous mutations in two siblings [c.812A>C (p.N271T)/c.1432_1433delGT (p.V478Rfs*73)]; a novel homozygous, putative splicing mutation [c.1035C>T (p.G345=)]; and finally, a recurrent mutation, previously identified in a distinct family [c.1210C>T (p.R404*)]. All patients were diagnosed with IDD. A majority of patients had remarkably small stature throughout development, many < 1st percentile for height and weight. Given the potential biological function of GPT2 in cellular growth, this phenotype is strongly suggestive of a newly identified clinical susceptibility. Further, homozygous GPT2 mutations manifested in at least 2 of 176 families with IDD (approximately 1.1%) in a Pakistani cohort, thereby representing a relatively common cause of recessive IDD in this population, with recurrence of the p.R404* mutation in this population. Based on variants in the ExAC database, we estimated that approximately 1 in 248 individuals are carriers of moderately or severely deleterious variants in GPT2.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Genes Recessivos , Predisposição Genética para Doença , Mutação , Fenótipo , Transaminases/genética , Adolescente , Alelos , Substituição de Aminoácidos , Deficiências do Desenvolvimento/metabolismo , Ativação Enzimática , Éxons , Feminino , Frequência do Gene , Estudos de Associação Genética , Genética Populacional , Genótipo , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Imagem por Ressonância Magnética , Masculino , Mitocôndrias/genética , Mitocôndrias/metabolismo , Modelos Moleculares , Linhagem , Conformação Proteica , Sítios de Splice de RNA , Análise de Sequência de DNA , Relação Estrutura-Atividade , Transaminases/química , Transaminases/metabolismo
18.
Medicine (Baltimore) ; 98(37): e17087, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31517830

RESUMO

Human papillomavirus (HPV) infection is a crucial health problem and caused substantial malignancy diseases among female worldwide. We aim to investigate the distribution of HPV subtype and the status of cervical cancer and precancerous lesions caused by HPV infection in North China Plain population. A total of 61,870 samples of outpatients and inpatients from January 2015 to May 2017 at the Affiliated Hospital of Jining Medical University were collected. All of the samples were tested by rapid flow-through hybridization HPV genotyping. Approximately 17,280 of the cases tested positive for HPV, indicating an infection rate of 27.9%. Approximately 7009 cases were compared to the results of cytological diagnosis. The top five HPV genotypes were HPV-16 (4.5%), HPV-52 (2.9%), HPV-58 (2.8%), HPV-53 (1.9%), and HPV-81 (1.9%). The youngest age group (age < 20 years) showed the highest infection rate (59.9%), and then decreased with age. As the degree of cervical lesions worsened gradually, the rate of high-risk HPV infection increased, such as 24.3% (322/1324) in the Cervicitis, 31.30% (560/1785) in the CINI, 54.1% (568/1050) in the CINII, 80.1% (693/865) in the CIN III, and 99.5% (428/430) in the cervical cancer group. These findings were significantly different from the 9.7% (155/1555) observed in the normal medical examination group (P < .05). This is the first study to demonstrate the characteristics of HPV and the association with cervical lesions in North China Plain population.


Assuntos
Genótipo , Infecções por Papillomavirus/genética , Neoplasias do Colo do Útero/genética , Adolescente , Adulto , Idoso , Neoplasia Intraepitelial Cervical/patologia , China/epidemiologia , Feminino , Humanos , Programas de Rastreamento/métodos , Programas de Rastreamento/estatística & dados numéricos , Distúrbios Menstruais/patologia , Pessoa de Meia-Idade , Infecções por Papillomavirus/classificação , Infecções por Papillomavirus/epidemiologia , Neoplasias do Colo do Útero/classificação , Neoplasias do Colo do Útero/epidemiologia , Descarga Vaginal/patologia
19.
Medicine (Baltimore) ; 98(35): e16933, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31464930

RESUMO

BACKGROUND: Previous studies have demonstrated that single-nucleotide polymorphisms (SNPs) in miRNAs are related to the susceptibility to brain tumors, but the conclusions remain controversial. This study was to perform a meta-analysis to re-assess the associations between miRNA SNPs and brain tumor risk. METHODS: Relevant studies were identified in the databases of PubMed and the Cochrane Library databases. Pooled odds ratio (OR) and 95% confidence interval (95% CI) were calculated to assess the relationships between SNPs and the risk of brain tumors under various genetic models by the STATA software. RESULTS: Five studies, containing 2275 cases, and 2323 controls, were included, 4 of which evaluated miR-196a2 (rs11614913), 3 for miR-146a (rs2910164) and 2 for miR-499 (rs3746444) and miR-149 (rs2292832), respectively. The meta-analysis indicated that the GG genotype carriers of miR-146a were more susceptible to brain tumors compared with GC genotype carriers (OR = 1.19, 95%CI = 1.01-1.41, P = .036). No significant associations were observed between the SNPs of other miRNAs and the risk of brain tumors. Furthermore, all miRNA polymorphisms did not show significant associations with the risk of glioma subgroup in any genetic models, while meta-analysis of non-glioma subgroup could not be performed due to low statistical power and analysis of only 1 study. CONCLUSION: Our study suggests that miR-146a polymorphism may modify the risk for brain tumors, but which type (glioma or benign non-glioma tumors) should be verified with large sample size.


Assuntos
Neoplasias Encefálicas/genética , MicroRNAs/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Humanos , Razão de Chances , Polimorfismo de Nucleotídeo Único
20.
Medicine (Baltimore) ; 98(35): e16970, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31464941

RESUMO

This study aimed to determine the feasibility of vaginal/cervical nurse-assisted self-sampling (NASS) and the agreement between human papilloma virus (HPV) tests on self-samples versus clinician-taken (CT) specimens.Women participated voluntarily for cervical cancer screening at St. Aklesia Memorial Hospital. Eighty-three women provided a total of 166 coupled self-taken and CT specimens collected. Specimens were stored at room temperature for a maximum of 10 months and analyzed using validated the RIATOL qPCR HPV genotyping test, a quantitative polymerase chain reaction (qPCR) high-throughput HPV E6, E7 assay. The average age of the participating women was 32 years. Seventy-three women (87.9%) felt that NASS was easy to use. An overall HPV, high-risk (HR) HPV, and low-risk HPV prevalence was 22.7% (15/66), 18.2% (12/66), and 6.1% (4/66), respectively. The overall HR HPV prevalence was 17.2% (NASS) and 15.5% (CT). The most prevalent HPV type was HPV51; HPV 16 was only detected in 1 woman (CT+NASS) and HPV18 only in 1 woman (CT). The overall measurement agreement between self-taken and CT samples was moderate with a kappa value of 0.576 (P < .001). Lifetime partnered with >2 men were associated with HR HPV positivity (P < .001). There was a strong statistical association between HR HPV positivity and visual inspection with acetic acid- positive (P < .001). The NASS for HPV testing could be seen as an alternative option and might be acceptable to Ethiopian women. The overall HR HPV prevalence was comparable with Sub-Saharan countries in the general population.


Assuntos
Detecção Precoce de Câncer/métodos , Infecções por Papillomavirus/diagnóstico , Manejo de Espécimes/métodos , Neoplasias do Colo do Útero/diagnóstico , Esfregaço Vaginal/métodos , Adulto , Idoso , Etiópia/epidemiologia , Feminino , Genótipo , Humanos , Pessoa de Meia-Idade , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/genética , Reação em Cadeia da Polimerase em Tempo Real , Sensibilidade e Especificidade , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA