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1.
Gene ; 807: 145954, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-34500050

RESUMO

Reducing tail fat deposition can increase the economic value of a carcass and improve feed efficiency. This study aimed to explore ELOVL5 and FASN polymorphisms associated with tail fat deposition and their expression levels of sheep. Association analysis showed that ELOVL5 synonymous mutation g.62534 C > T was associated with tail width, tail fat weight, and relative tail fat weight (P < 0.05). FASN synonymous mutation g.12694 A > G was associated with tail length and width (P < 0.05). Combined effect analyses indicated significant differences between the combined genotypes and tail fat deposition. Quantitative real-time reverse transcription PCR indicated that the ELOVL5 and FASN expression levels were significantly higher in tail fat than in other tissues (P < 0.05). ELOVL5 expression levels in tail-fat tissue of big-tail sheep was significantly higher than that in small-tail sheep (P < 0.01). FASN expression levels were significantly higher in tail-fat tissue of small-tail sheep than in that of big-tail sheep (P < 0.05). During development, ELOVL5 tail fat expression increased significantly from 0 to 6 months old (P < 0.05), and FASN expression at 3 months old was significantly higher than that at 0 (minimum) and 6 months old (P < 0.05). Therefore, ELOVL5 and FASN polymorphisms could represent new candidate molecular markers and targets to reduce tail fat deposition in sheep.


Assuntos
Adiposidade/genética , Elongases de Ácidos Graxos/genética , Ácido Graxo Sintase Tipo I/genética , Tecido Adiposo/metabolismo , Tecido Adiposo/fisiologia , Animais , Pesos e Medidas Corporais/métodos , Elongases de Ácidos Graxos/metabolismo , Ácido Graxo Sintase Tipo I/metabolismo , Genótipo , Polimorfismo Genético/genética , Reação em Cadeia da Polimerase em Tempo Real/métodos , Ovinos/genética , Cauda/metabolismo
2.
Gene ; 807: 145951, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-34500051

RESUMO

AIMS: The purpose of the present study was to analyze the role of selected polymorphisms of SIRT3 and SIRT5 in gastric carcinogenesis. METHODS: For this study, 500 blood samples of GC patients and 500 blood samples of healthy individuals were collected. Six selected polymorphisms of mitochondrial sirtuins were analyzed for analysis using Tetra-Arms PCR followed by DNA sequencing. RESULTS: Mutant allele frequencies of selected polymorphisms [rs3782116 (p < 0.0001), rs6598072 (p < 0.0001) and rs11246020 (p < 0.0001), rs938222 (p = 0.0136), rs3757261 (p = 0.0005) and rs2841511 (p = 0.0015)] were observed significant higher in GC patients vs controls. Haplotype analysis was performed, and 51 haplotypes were generated using haploview software. Among these haplotypes, eleven haplotypes were found associated with a significantly increased risk of GC. Furthermore, SNP-SNP interaction showed a significant correlation between studied SNPs and GC risk. Kaplan Meier analysis showed that mutant allele frequencies of selected polymorphisms are linked with a significant decrease in survival of GC patients CONCLUSIONS: It can be concluded that selected SNPs may be associated with enhanced risk of GC and hence can be potential prognostic markers for prognosis and predisposition of GC.


Assuntos
Sirtuína 3/genética , Sirtuínas/genética , Neoplasias Gástricas/genética , Alelos , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , China/epidemiologia , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Variação Genética/genética , Genótipo , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Mitocôndrias/genética , Polimorfismo de Nucleotídeo Único/genética , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Sirtuína 3/sangue , Sirtuína 3/metabolismo , Sirtuínas/sangue , Sirtuínas/metabolismo
3.
Gene ; 807: 145933, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-34464678

RESUMO

BACKGROUND: Cervical-cancer is among the most commonly diagnosed cancers in women, and infection with human papillomavirus (HPV) is associated with an increased risk of cervical cancer and altered serum concentrations of inflammatory cytokines. We have explored the association between a genetic variation in the Interleukin-10 (IL-10) gene (rs1800896) and cervical cancer risk and its relationship with tissue Interferon gamma (IFN-γ), Transforming growth factor beta (TGF-ß), Tumor necrosis factor alpha (TNF-α) concentrations in women with cervical cancer. METHODS: A total of 315 women with, or without cervical cancer, were recruited into the study. DNA was extracted from cervical cells, and genotyping was undertaken using Taq-man real-time PCR. The genotype frequency and allele distribution were analyzed together with their association with pathological data. The association of the rs1800896 gene variation with tissue levels of the inflammatory cytokines was also investigated. RESULTS: Our data showed a significant association between the A allele of the rs1800896 gene variant and the presence of cervical cancer. In particular, patients with AG/AA genotypes had an increased risk of cervical cancer with an odds ratio of 1.929 (95% confidence interval [CI]: 0.879-4.23, P < 0.001) in a recessive model, compared with the GG genotype. Also, the tissue concentrations of IFN-γ, TGF-ß, and TNF-α in cervical tissues were significantly higher in women with cervical cancer (P < 0.001) and were associated with the AA genotype. CONCLUSION: We have found an association between the polymorphism rs1800896 in the IL-10 gene and an increased risk of cervical cancer as well as a higher level of tissue inflammatory cytokines. Further investigations are necessary on the value of emerging biomarkers for the risk stratification for the management of cervical cancer patients.


Assuntos
Interleucina-10/genética , Neoplasias do Colo do Útero/genética , Adulto , Alelos , Alphapapillomavirus/genética , Alphapapillomavirus/patogenicidade , Citocinas , Feminino , Frequência do Gene/genética , Genótipo , Humanos , Inflamação , Interferon gama , Interleucina-10/metabolismo , Pessoa de Meia-Idade , Razão de Chances , Papillomaviridae/genética , Papillomaviridae/patogenicidade , Polimorfismo de Nucleotídeo Único/genética , Reação em Cadeia da Polimerase em Tempo Real , Fatores de Risco , Fator de Crescimento Transformador beta/metabolismo , Fator de Necrose Tumoral alfa/metabolismo
4.
Food Chem ; 369: 130887, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34461519

RESUMO

Rapid deterioration of rice bran due to the LOX3 enzyme catalysed oxidation of PUFA is the major bottleneck for its utilization in various downstream applications. In the present study, we have identified a set of nine novel LOX3-null rice accessions carrying a deletion of C residue in the exon2 causing a frameshift mutation resulting in a truncated non-functional LOX3 protein. Our study, further manifested the predominance of C deletion based LOX3-null allele, named lox3-b, in the aromatic rice germplasm particularly in the Indian Basmati rice group. The LOX3-null genotypes exhibited significantly reduced rancidity, after six months of storage. They also showed significantly lower percentage reduction of linoleic acid (LA), higher γ-oryzanol content and lower hexanal content. A functional dCAPS marker designed based on the deletion polymorphism clearly differentiated LOX3 and lox3-b alleles, and has the potential application in marker assisted rice breeding programmes to develop cultivars with better bran storability.


Assuntos
Oryza , Alelos , Genótipo , Lipoxigenases , Oryza/genética , Melhoramento Vegetal , Proteínas de Plantas , Polimorfismo Genético
5.
Ann Lab Med ; 42(1): 36-46, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-34374347

RESUMO

Background: The emergence of carbapenemase-producing Enterobacteriaceae (CPE) represents a major clinical problem. Recently, the occurrence of CPE has increased globally, but epidemiological patterns vary across region. We report the trends in the genotypic distribution and antimicrobial susceptibility of CPE isolated from rectal and clinical samples during a four-year period. Methods: Between January 2016 and December 2019, 1,254 nonduplicated CPE isolates were obtained from four university hospitals in Korea. Carbapenemase genotypes were determined by multiplex real-time PCR. Antimicrobial susceptibility was profiled using the Vitek 2 system (bioMérieux, Hazelwood, MO, USA) or MicroScan Walkaway-96 system (Siemens West Sacramento, CA, USA). The proportions of carbapenemase genotypes and nonsusceptibility were analyzed using Pearson's chi-square test. Results: Among the 1,254 CPE isolates, 486 (38.8%), 371 (29.6%), 357 (28.5%), 8 (0.6%), 8 (0.6%), and 24 (1.9%) were Klebsiella pneumoniae carbapenemase (KPC), oxacillinase (OXA)-48-like, New Delhi metallo-ß-lactamase (NDM), imipenemase (IMP), Verona integron-encoded metallo-ß-lactamase (VIM), and multiple producers, respectively. The predominant species was K. pneumoniae (72.6%), followed by Escherichia coli (6.5%). More than 90% of the isolates harboring KPC, NDM, and OXA-48-like were nonsusceptible to cephalosporins, aztreonam, and carbapenems. Conclusions: The impact of CPE is primarily due to KPC-, NDM-, and OXA-48-like-producing K. pneumoniae isolates. Isolates carrying these carbapenemase are mostly multidrug-resistant. Control strategies based on these genotypic distributions and antimicrobial susceptibilities of CPE isolates are required.


Assuntos
Anti-Infecciosos , Enterobacteriáceas Resistentes a Carbapenêmicos , Infecções por Enterobacteriaceae , Antibacterianos/farmacologia , Proteínas de Bactérias/genética , Infecções por Enterobacteriaceae/epidemiologia , Genótipo , Hospitais Universitários , Humanos , Klebsiella pneumoniae , Testes de Sensibilidade Microbiana , República da Coreia , beta-Lactamases/genética
6.
Spectrochim Acta A Mol Biomol Spectrosc ; 266: 120399, 2022 Feb 05.
Artigo em Inglês | MEDLINE | ID: mdl-34597869

RESUMO

The use of vibrational spectroscopy, such as near infrared (NIR) and Raman, combined with multivariate analysis methods to analyze agricultural products are promising for investigating genetically modified organisms (GMO). In Brazil, cotton is grown under humid tropical conditions and is highly affected by pests and diseases, requiring the use of large amounts of phytosanitary chemicals. To avoid the use of those pesticides, genetic improvement can be carried out to produce species tolerant to herbicides, resistant to fungi and insects, or even to provide greater productivity and better quality. Even with these advantages, it is necessary to manage and limit the contact of transgenic species with native ones, avoiding possible contamination or even extinction of conventional species. The identification of the presence of GMOs is based on complex DNA-based analysis, which is usually laborious, expensive, time-consuming, destructive, and generally unavailable. In the present study, a new methodology to identify GMOs using partial least squares discriminant analysis (PLS-DA) on NIR and Raman data is proposed to distinguish conventional and transgenic cotton seed genotypes, providing classification errors for prediction set of 2.23% for NIR and 0.0% for Raman.


Assuntos
Óleo de Sementes de Algodão , Espectroscopia de Luz Próxima ao Infravermelho , Análise Discriminante , Genótipo , Análise dos Mínimos Quadrados , Sementes/genética
7.
Gene ; 807: 145950, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-34481003

RESUMO

This population-based longitudinal study is the first investigation that assesses the association of common MC4R SNPs with the obesity-related parameters over time and determines the effect of risk alleles during the three adulthood life periods (early, middle, and late) in a large Iranian cohort, a population with a unique genetic make-up that has been understudied and relatively unexplored. We obtained the genotype of 5370 unrelated adults who participated in the ongoing Tehran Cardiometabolic Genetic Study (TCGS) cohort project for the common MC4R SNPs. Linear regression and linear mixed model analyses were performed to examine the effect of MC4R polymorphisms on maximum BMI and other obesity-related factors over time. We recognized that several SNPs associated with the maximum BMI and the increased BMI, waist circumference, and waist-hip ratio across Iranian adults over a lifetime. Interestingly, we found that rs9954571-A has a yet unreported protective role against obesity-related factors, including BMI, waist circumference, waist-hip ratio, and triglyceride level. Additionally, a survey of the impact of the MC4R risk score throughout the adulthood life periods indicated that the MC4R risk score is influenced both the elevated BMI and waist circumference only during the early adulthood period. Our findings can expand our knowledge about the MC4R genetic variant's contributions to adulthood obesity and highlight the importance of evaluating the genetic components affecting obesity over a lifetime, which could be considered for obesity clinical screening and treatment.


Assuntos
Obesidade/genética , Receptor Tipo 4 de Melanocortina/genética , Adulto , Alelos , Índice de Massa Corporal , Estudos de Coortes , Feminino , Frequência do Gene/genética , Predisposição Genética para Doença/genética , Genótipo , Humanos , Irã (Geográfico)/epidemiologia , Estudos Longitudinais , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Obesidade/metabolismo , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Receptor Tipo 4 de Melanocortina/metabolismo , Fatores de Risco , Circunferência da Cintura/genética , Relação Cintura-Quadril/métodos
8.
Gene ; 807: 145949, 2022 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-34481004

RESUMO

Growth traits is a critical economic trait for animal husbandry. In this study, the SNPs of CTNNA3 and CAP2 genes were investigated to check whether they are associated with growth traits (body weight, body height, body length and chest circumference) in Hu sheep. The result of the association analysis indicated that the mutation in CTNNA3 (g.2018018 A > G) were associated significantly with body weight, body height, body length and chest circumference (P < 0.05), the mutation in CAP2 (g.8588 T > C) were associated significantly with body height at 140, 160, 180 days (P < 0.05), AA and CC of CTNNA3 and CAP2 were the dominant genotypes associated with growth traits in Hu sheep. Moreover, combined effect analyses indicated that the growth traits with combined genotypes AACTNNA3-CCCAP2 and AACTNNA3-CTCAP2 were higher than those with genotype GGCTNNA3-CTCAP2. RT-qPCR indicated that CTNNA3 expression levels were significantly higher in liver and lung than in other nine tissues (P < 0.05), CAP2 expression levels were significantly higher in bone, heart, liver, lung and duodenum than in other six tissues (P < 0.05). In conclusion, CTNNA3 and CAP2 polymorphisms could be used as genetic markers for improving growth traits in Hu sheep husbandry.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Peso Corporal/genética , Ovinos/crescimento & desenvolvimento , Animais , China , Marcadores Genéticos/genética , Genótipo , Haplótipos/genética , Humanos , Desequilíbrio de Ligação , Masculino , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Ovinos/genética , alfa Catenina/genética , alfa Catenina/metabolismo
9.
Food Chem ; 370: 131003, 2022 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-34543920

RESUMO

Metabolomics is one of the most powerful -omics to assist plant breeding. Despite the recognized genetic diversity in Portuguese common bean germplasm, details on its metabolomics profiles are still missing. Aiming to promote their use and to understand the environment's effect in bean metabolomics profiles, 107 Portuguese common bean accessions, cropped under contrasting environments, were analyzed using spectrophotometric, untargeted and targeted mass spectrometry approaches. Although genotype was the most relevant factor on bean metabolomics profile, a clear genotype × environment interaction was also detected. Multivariate analysis highlighted, on the heat-stress environment, the existence of higher levels of salicylic acid, and lower levels of triterpene saponins. Three clusters were defined within each environment. White accessions presented the lowest content and the colored ones the highest levels of prenol lipids and flavonoids. Sources of interesting metabolomics profiles are now identified for bean breeding, focusing either on local or on broad adaptation.


Assuntos
Phaseolus , Genótipo , Metabolômica , Phaseolus/genética , Melhoramento Vegetal
10.
J Sci Food Agric ; 102(1): 370-382, 2022 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-34139029

RESUMO

BACKGROUND: Rice yield and grain quality are highly sensitive to soil salinity. Distinct rice genotypes respond to salinity stress differently. To explore the variation in grain yield and grain trait adaptation to moderate, reproductive-stage salinity stress (4 dS/m electrical conductivity), four rice cultivars differing in degrees of vegetative salt tolerance, including Pokkali (salt-tolerant), RD15 (moderately salt-tolerant), KDML105 (moderately salt-susceptible) and IR29 (salt-susceptible), were examined. RESULTS: Grain fertility and 100-grain weight of RD15, KDML105 and IR29, as well as grain morphology of KDML105 and IR29, were significantly disturbed. Interestingly, grain starch accumulation in RD15 and KDML105 was enhanced under stress. However, only RD15 showed changes in starch physicochemical properties, including increased granule diameter, decreased gelatinization peak temperature (Tp ) and decreased retrogradation onset temperature (To ). Notably, Pokkali maintained productivity, grain quality, and starch properties, while the grain quality of IR29 remained unchanged under salinity stress. Multivariate analysis displayed clear separation of productivity, grain morphology, and starch variables of RD15 in the salt-treated group relative to the control group, suggesting that it was the cultivar most impacted by salt stress despite its moderate salt-tolerance at vegetative stage. CONCLUSION: Our results demonstrate specific salinity responses among the rice genotypes, and suggest discrepancies between degrees of salt tolerance at vegetative stage versus the ability to maintain both grain quality and starch properties in response to salinity stress imposed at reproductive stage. © 2021 Society of Chemical Industry.


Assuntos
Oryza/crescimento & desenvolvimento , Sementes/química , Cloreto de Sódio/metabolismo , Amido/química , Genótipo , Oryza/genética , Oryza/metabolismo , Salinidade , Estresse Salino , Tolerância ao Sal , Sementes/crescimento & desenvolvimento , Sementes/metabolismo , Cloreto de Sódio/análise , Amido/metabolismo
11.
J Sci Food Agric ; 102(1): 62-72, 2022 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-34031883

RESUMO

BACKGROUND: Dehulling and splitting are important elements of the milling process to produce dhal from pulses. However, grain that is difficult-to-mill because of tightly adhered seed coats or cotyledons that resist separation makes it difficult to achieve high quality dhal. Milling yields are reduced, energy inputs into the milling process are increased, and the resulting dhal can be of poorer quality, chipped or abraded. RESULTS: Eight enzyme pre-treatments were chosen based on the hypothesised mechanisms of seed coat and cotyledon adhesion established previously. Using a difficult-to-mill chickpea (Cicer arietinum L.) genotype, we examined the effects of these pre-treatments, over time, on laboratory-scale milling performance and dhal quality. We pioneered a texture analyser method to measure the flex of the cotyledons and the force required to cleave the cotyledons. The enzyme-induced changes ranged from negative (tough seed coat, weight loss, deleterious colour and texture, increased visual damage to cotyledons and increased kibble loss, concave cotyledons, increased flex, and changes in taste) to positive (brittle seed coat, increased seed volume, improved dehulling efficiency and splitting yield, reduced cotyledon cleavage force, and acceptable dhal quality and taste). CONCLUSION: All pre-treatments improved milling performance compared to milling the raw seed, although there was considerable variation between them. Two pre-treatments showed no improvement in milling yields compared to the water control, and several pre-treatments resulted in unacceptable qualities. Three pre-treatments, endo-polygalacturonanase, α-galactosidase and cellulase, show potential for commercial milling applications and could assist pulse millers globally to achieve high quality dhal at the same time as minimising milling effort. © 2021 Society of Chemical Industry.


Assuntos
Cicer/química , Cotilédone/química , Enzimas/química , Manipulação de Alimentos/métodos , Sementes/química , Biocatálise , Cicer/genética , Cotilédone/genética , Qualidade dos Alimentos , Genótipo , Sementes/genética
12.
J Infect Chemother ; 28(1): 82-86, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34412982

RESUMO

Hepatitis B virus (HBV) DNA is detectable in the nails and hair of patients with chronic HBV infection. However, it remains unclear whether HBV DNA can be detectable in the nails and hair of patients with acute HBV infection. We encountered two cases of children with acute HBV infection. HBV DNA in the nails and hair from the two children was evaluated by real-time PCR. To clarify the characteristics of HBV DNA, full-length HBV genome sequencing and phylogenetic tree analysis were performed. The levels of serum HBV DNA in children of cases 1 and 2 at day 0 were 7.6 Log IU/mL and 7.4 Log IU/mL, respectively. Nail HBV DNA was detected in both children (case 1: 4.6 Log IU/mL at day 0, case 2: 5.5 Log IU/mL at day 14). Moreover, hair HBV DNA was detectable in case 2 (4.0 Log IU/mL at day 14). Serum HBV DNA became undetectable within approximately 3-4 months after the first hospital visit. After the resolution of HBV viremia, nail and hair HBV DNA became undetectable. The sequence analysis of serum, nail and hair HBV DNA showed the same HBV genotype in each case (case1: genotype C, case 2: genotype A). In case 1, 3 nucleotides were different in the full-genome HBV sequence between the serum and nails. In case 2, the full-genome HBV sequences were identical among the serum, nails and hair. In conclusion, HBV DNA was detectable in nails and hair of children with acute HBV infection.


Assuntos
Hepatite B Crônica , Hepatite B , Criança , DNA Viral/genética , Genótipo , Hepatite B/diagnóstico , Antígenos de Superfície da Hepatite B , Antígenos E da Hepatite B , Vírus da Hepatite B/genética , Humanos , Unhas , Filogenia
13.
BMC Genomics ; 22(1): 796, 2021 Nov 05.
Artigo em Inglês | MEDLINE | ID: mdl-34740333

RESUMO

BACKGROUND: Mastitis is an economically important disease of dairy cows with Staphylococcus aureus a major cause worldwide. Challenge of Holstein-Friesian cows demonstrated that S. aureus strain MOK124, which belongs to Clonal Complex (CC)151, caused clinical mastitis, while strain MOK023, belonging to CC97, caused mild or subclinical mastitis. The aim of this study was to elucidate the molecular mechanisms of the host immune response utilising a transcriptomic approach. Milk somatic cells were collected from cows infected with either S. aureus MOK023 or MOK124 at 0, 24, 48, 72 and 168 h post-infection (hpi) and analysed for differentially expressed (DE) genes in response to each strain. RESULTS: In response to MOK023, 1278, 2278, 1986 and 1750 DE genes were found at 24, 48, 72 and 168 hpi, respectively, while 2293, 1979, 1428 and 1544 DE genes were found in response to MOK124 at those time points. Genes involved in milk production (CSN1, CSN10, CSN1S2, CSN2, a-LACTA and PRLR) were downregulated in response to both strains, with a more pronounced decrease in the MOK124 group. Immune response pathways such as NF-κB and TNF signalling were overrepresented in response to both strains at 24 hpi. These immune pathways continued to be overrepresented in the MOK023 group at 48 and 72 hpi, while the Hippo signalling, extracellular matrix interaction (ECM) and tight junction pathways were overrepresented in the MOK124 group between 48 and 168 hpi. Cellular composition analysis demonstrated that a neutrophil response was predominant in response to MOK124, while M1 macrophages were the main milk cell type post-infection in the MOK023 group. CONCLUSIONS: A switch from immune response pathways to pathways involved in maintaining the integrity of the epithelial cell layer was observed in the MOK124 group from 48 hpi, which coincided with the occurrence of clinical signs in the infected animals. The higher proportion of M1 macrophages in the MOK023 group and lack of substantial neutrophil recruitment in response to MOK023 may indicate immune evasion by this strain. The results of this study highlight that the somatic cell transcriptomic response to S. aureus is dependent on the genotype of the infecting strain.


Assuntos
Mastite Bovina , Infecções Estafilocócicas , Animais , Bovinos , Feminino , Genótipo , Mastite Bovina/genética , Leite , Infecções Estafilocócicas/genética , Infecções Estafilocócicas/veterinária , Staphylococcus aureus/genética , Transcriptoma
14.
Am J Case Rep ; 22: e933462, 2021 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-34727096

RESUMO

BACKGROUND COVID-19 can be complicated by kidney disease, including focal segmental glomerulosclerosis (FSGS), interstitial nephritis, and acute kidney injury (AKI). Almost all known cases of COVID-19-associated glomerulonephritis have been in patients of African descent, with G1 or G2 apolipoprotein L1 (APOL1) risk alleles, and they presented collapsing type of FSGS. CASE REPORT We report a case of biopsy-confirmed non-collapsing FSGS with secondary acute interstitial nephritis and AKI in a young White man with APOL1 low-risk genotype, who had COVID-19 pneumonia. His past history included arterial hypertension, anabolic steroids, and high-protein diet. He fully recovered from type 1 respiratory failure and AKI after transfusion of COVID-19 convalescent plasma and intravenous treatment with dexamethasone administered for 16 days in a dose reduced from 16 to 2 mg/day. Due to progressing severe nephrotic proteinuria (22.6 g/24 h), intravenous methylprednisolone was administered (1500 mg divided in 3 pulses over 3 days) immediately followed by oral prednisone (0.6 mg/kg body weight), with dose reduced 19 weeks later and switched to cyclosporine A (4 mg/kg body weight). Kidney re-biopsy, at that time, showed a decrease in proportion of glomeruli affected with podocytopathy, but progression of interstitial lesions. After 23 weeks of therapy, partial remission of FSGS was attained and proteinuria dropped to 3.6 g/24 h. After 43 weeks, proteinuria decreased to 0.4 g/24 h and the serum creatinine concentration remained steady. CONCLUSIONS High-dose glucocorticoid therapy was effective in the initial treatment of COVID-19-related non-collapsing FSGS, but had no effect on interstitial changes. Introduction of cyclosporine A to the therapy contributed to remission of disease.


Assuntos
Injúria Renal Aguda , COVID-19 , Glomerulosclerose Segmentar e Focal , Nefrite Intersticial , Injúria Renal Aguda/etiologia , Apolipoproteína L1/genética , COVID-19/terapia , Genótipo , Glomerulosclerose Segmentar e Focal/tratamento farmacológico , Glucocorticoides/uso terapêutico , Humanos , Imunização Passiva , Masculino , SARS-CoV-2
15.
BMC Vet Res ; 17(1): 347, 2021 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-34749727

RESUMO

BACKGROUND: Between 2018 and 2020, 989 clinical specimens from pigs showing clinical signs of a variety of swine diseases in 27 provinces in China were sampled and submitted for further testing. Nested PCR targeting the 16S rRNA gene of Mycoplasma hyopneumoniae and subsequent sequencing were used to analyse these specimens. Mycoplasma hyopneumoniae-positive samples were assayed by multilocus sequence typing (MLST). The aim of the study was to reveal the distribution of M. hyopneumoniae and determine the genotypes of M. hyopneumoniae in pig herds in China based on MLST. RESULTS: Among these 989 samples, 199 samples were M. hyopneumoniae-positive. The M. hyopneumoniae positivity rate was 7.2% (35/494) in 2018, 18.4% (38/207) in 2019, and 43.8% (126/288) in 2020. In total, 47 samples were successfully assayed by MLST. Sixteen new M. hyopneumoniae sequence types from 9 provinces were recorded in the present study. CONCLUSIONS: This is the first report on sample positivity rates and molecular typing results for M. hyopneumoniae in swine herds in China. MLST has revealed high genotype diversity among M. hyopneumoniae from different provinces of China.


Assuntos
Tipagem de Sequências Multilocus/veterinária , Mycoplasma hyopneumoniae/genética , Mycoplasma hyopneumoniae/isolamento & purificação , Animais , China , Variação Genética , Genótipo , Tipagem de Sequências Multilocus/métodos , Pneumonia Suína Micoplasmática/epidemiologia , Reação em Cadeia da Polimerase/veterinária , RNA Ribossômico 16S , Suínos
16.
Zhongguo Dang Dai Er Ke Za Zhi ; 23(11): 1132-1140, 2021 Nov 15.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-34753545

RESUMO

OBJECTIVES: To study the association of ß2-drenergic receptor (ADRB2) regulatory region single nucleotides polymorphism (SNP)/haplotypes at rs11168070, rs17108803, rs2053044, rs12654778, rs11959427, and rs2895795 loci with childhood asthma. METHODS: A total of 143 children with asthma who attended the hospital from October 2016 to October 2020 were enrolled as the asthma group, among whom 61 children had mild symptoms (mild group) and 82 children had moderate-to-severe symptoms (moderate-to-severe group). A total of 137 healthy children were enrolled as the control group. Peripheral venous blood samples were collected from the two groups. The SNaPshot SNP technique was used to analyze the SNP and haplotypes of the ADRB2 regulatory region at rs11168070, rs17108803, rs2053044, rs12654778, rs11959427, and rs2895795 loci in all children. The asthma group and the control group were compared in terms of the association of ADRB2 regulatory region SNP and haplotypes at the above six loci with susceptibility to asthma and severity of asthma. RESULTS: Polymorphisms were observed in the ADRB2 regulation region at the above six loci in both the asthma group and the control group, with significant differences between the two groups in the distribution of genotype and allele frequencies at rs2895795 (-1429T /A), rs2053044(-1023G/A), and rs12654778 (-654G/A) loci (P<0.05). Linkage disequilibrium of SNP was observed at the six loci of the ADRB2 regulatory region.The haplotypes of TATGCT, TATGGC, and AGTGCT were associated with susceptibility to childhood asthma, among which TATGCT and TATGGC were risk factors for childhood asthma (OR=1.792 and 1.946 respectively, P<0.05), while AGTGCT was a protective factor (OR=0.523, P<0.05). CONCLUSIONS: SNP/haplotype of the ADRB2 regulatory region is associated with the susceptibility to childhood asthma. The haplotypes of TATGCT and TATGGC formed by such SNP/haplotype are risk factors for childhood asthma, while AGTGCT is a protective factor.


Assuntos
Asma , Receptores Adrenérgicos beta 2 , Asma/genética , Estudos de Casos e Controles , Criança , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Polimorfismo de Nucleotídeo Único , Receptores Adrenérgicos beta 2/genética , Sequências Reguladoras de Ácido Nucleico
17.
Zhonghua Yi Xue Za Zhi ; 101(42): 3501-3505, 2021 Nov 16.
Artigo em Chinês | MEDLINE | ID: mdl-34775709

RESUMO

Objective: To investigate the relationship between V444A mutation of the ABCB11 gene and primary intrahepatic stone (PIS). Methods: A total of 164 patients (including 91 males and 73 females, with an average age of (46.0±13.0) years) with PIS and 164 healthy (including 99 males and 65 females, with an average age of (43.8±16.7) years) volunteers were enrolled in this case-control study between October 2017 and June 2019. TaqMan-MGB was used for detecting the V444A polymorphism site of the ABCB11 gene. All the genotypes and allele frequencies were calculated. Pearson chi-squared test was performed to detect the differences in allele and genotype distribution between the two groups. Logistic regression analysis was used to identify genotypes associated with PIS. Results: There was no significant difference in age and gender between the two groups(both P>0.05). The distributions of V444A allele and genotype accorded with Hardy-Weinberg equilibrium law (P=0.161), which indicated that the selected control group represented statistically acceptable sample. Two alleles of T and C, and three genotypes of TT, TC and CC were detected in the locus of V444A. The T and C allele frequencies in the PIS group and the control group were 28.4% vs 35.4%, and 71.6% vs 64.6%, respectively. The frequencies of the T and C alleles were not different between the two groups (P=0.054). The frequencies of TT, TC and CC genotypes in the two groups were 5.5%, 45.7%, 48.8%, and 14.6%, 41.5%, 43.9%, respectively, with significant difference between the two groups (P=0.023). Logistic regression analysis revealed the V444A polymorphism (TC heterozygous mutation) was associated with PIS. Conclusion: ABCB11 gene polymorphism at the site of V444A may be related to the susceptibility of PIS.


Assuntos
Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Membro 11 da Subfamília B de Transportadores de Cassetes de Ligação de ATP , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação
18.
Am J Hum Genet ; 108(11): 2052-2070, 2021 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-34739834

RESUMO

Pedigree inference from genotype data is a challenging problem, particularly when pedigrees are sparsely sampled and individuals may be distantly related to their closest genotyped relatives. We present a method that infers small pedigrees of close relatives and then assembles them into larger pedigrees. To assemble large pedigrees, we introduce several formulas and tools including a likelihood for the degree separating two small pedigrees, a generalization of the fast DRUID point estimate of the degree separating two pedigrees, a method for detecting individuals who share background identity-by-descent (IBD) that does not reflect recent common ancestry, and a method for identifying the ancestral branches through which distant relatives are connected. Our method also takes several approaches that help to improve the accuracy and efficiency of pedigree inference. In particular, we incorporate age information directly into the likelihood rather than using ages only for consistency checks and we employ a heuristic branch-and-bound-like approach to more efficiently explore the space of possible pedigrees. Together, these approaches make it possible to construct large pedigrees that are challenging or intractable for current inference methods.


Assuntos
Genótipo , Linhagem , Algoritmos , Feminino , Humanos , Funções Verossimilhança , Masculino , Modelos Genéticos
19.
Zhonghua Zhong Liu Za Zhi ; 43(11): 1177-1182, 2021 Nov 23.
Artigo em Chinês | MEDLINE | ID: mdl-34794220

RESUMO

Objective: To investigate the correlation between UGT1A1 polymorphisms and the irinotecan plus S-1 regimen-induced toxicities in Chinese advanced esophageal squamous cell carcinoma (ESCC) patients. Methods: A total of 46 recurrent or metastatic ESCC patients selected from ESWN 01 trial were randomly assigned to irinotecan plus S-1 group [intravenous infusion of irinotecan (160 mg/m(2)) on day 1 and oral S-1 (80-120 mg) on days 1-10, repeated every 14 days]. Peripheral venous blood at baseline was collected and genomic DNA was extracted. The genetic polymorphisms of UGT1A1*6 and UGT1A1*28 were analyzed by polymerase chain reaction (PCR) amplification. Irinotecan plus S-1 regimen-induced toxicities of patients with different UGT1A1 polymorphisms were observed. The correlation between UGT1A1 polymorphisms and the adverse effects was analyzed. Results: Among the 46 patients, the numbers of UGT1A1*6 wild type genotype (GG), mutant heterozygote (GA) and mutant homozygote (AA) were 30, 15 and 1, while those with UGT1A1*28 wild type genotype (TA6/6), mutant heterozygote (TA6/7) and mutant homozygote (TA7/7) were 36, 8 and 2, respectively. Only one patient with UGT1A1*6 AA genotype occurred grade 3 diarrhea, while one of the 2 patients with UGT1A1*28 TA7/7 genotype occurred grade 4 diarrhea. No neutropenia was observed in the patient with UGT1A1*6 AA genotype, however, both of the two patients with UGT1A1*28 TA7/7 genotype occurred grade 3-4 neutropenia. Patients with UGT1A1*28 genetic polymorphism (TA 6/7 or TA7/7) had a higher response rate compared with wild-type TA6/6 carriers. (55.6% versus 26.5%). Conclusions: The homozygous genotype of UGT1A1*6 AA and UGT1A1*28 TA7/7 are rare (<5%) in Chinese ESCC population. Not all homozygous AA and TA7/7 carriers occur severe dose limited toxicities (DLT) when treated with irinotecan (160 mg/m(2)) plus S-1 regimen for 2 weeks. However, it's still necessary torigorously observe the occurrence of severe diarrhea and neutropenia in patients with UGT1A1*6 AA and UGT1A1*28 TA7/7 and adjust the dose timely.


Assuntos
Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Camptotecina/efeitos adversos , Neoplasias Esofágicas/tratamento farmacológico , Neoplasias Esofágicas/genética , Carcinoma de Células Escamosas do Esôfago/genética , Genótipo , Glucuronosiltransferase/genética , Humanos , Irinotecano/efeitos adversos , Polimorfismo Genético , Estudos Prospectivos
20.
BMC Genomics ; 22(1): 666, 2021 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-34719381

RESUMO

BACKGROUND: Historically, geneticists have relied on genotyping arrays and imputation to study human genetic variation. However, an underrepresentation of diverse populations has resulted in arrays that poorly capture global genetic variation, and a lack of reference panels. This has contributed to deepening global health disparities. Whole genome sequencing (WGS) better captures genetic variation but remains prohibitively expensive. Thus, we explored WGS at "mid-pass" 1-7x coverage. RESULTS: Here, we developed and benchmarked methods for mid-pass sequencing. When applied to a population without an existing genomic reference panel, 4x mid-pass performed consistently well across ethnicities, with high recall (98%) and precision (97.5%). CONCLUSION: Compared to array data imputed into 1000 Genomes, mid-pass performed better across all metrics and identified novel population-specific variants with potential disease relevance. We hope our work will reduce financial barriers for geneticists from underrepresented populations to characterize their genomes prior to biomedical genetic applications.


Assuntos
Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único , Genoma , Genoma Humano , Genômica , Genótipo , Humanos , Sequenciamento Completo do Genoma
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