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1.
Anticancer Res ; 41(9): 4387-4393, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34475058

RESUMO

BACKGROUND/AIM: Breast cancer incidence is highest among women worldwide, and practical markers for personalized therapeutic strategies are few. Interleukin-12 (IL-12) is a cytokine that is reported to be significantly lower in healthy controls than breast cancer cases, however, its genotypic contribution to carcinogenesis has never been revealed in breast cancer. We examined whether IL-12A rs568408 and rs2243115 genotypes contribute to elevated breast cancer risk and summarized related literature among other cancers. MATERIALS AND METHODS: IL-12A genotypic profiles were determined among 1,232 breast cancer cases and 1,232 healthy controls via polymerase chain reaction-restriction fragment length polymorphism methodology. RESULTS: The variant genotypes of IL-12A rs568408 and rs2243115 were not found to be significantly associated with elevated breast cancer risk (both p>0.05). CONCLUSION: IL-12A rs568408 and rs2243115 genotypes may not serve as good predictors of breast cancer risk.


Assuntos
Neoplasias da Mama/genética , Estudos de Associação Genética/métodos , Subunidade p35 da Interleucina-12/genética , Polimorfismo de Nucleotídeo Único , Adulto , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Polimorfismo de Fragmento de Restrição
2.
Rev Soc Bras Med Trop ; 54: e01692021, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34495255

RESUMO

INTRODUCTION: The clinical manifestations of cryptococcosis are usually associated with the infecting agents Cryptococcus neoformans (CN) and C. gattii (CG) species complexes and the host. In this study, non-HIV-infected patients, at a university hospital in southeastern Brazil, had epidemiological and clinical data associated with cryptococcal disease and isolated Cryptococcus species: CN - 24 patients and CG - 12 patients. METHODS: The comparison was comprised of demographic data, predisposing factors, clinical and laboratory manifestations, and outcomes of cryptococcosis patients treated between 2000 and 2016. Immunocompetent and immunosuppressed patients were also compared, irrespective of the infecting species. Cryptococcus spp. were genotyped by PCR-RFLP analysis of the URA5 gene. RESULTS: Infections by the CN species complex (100% VNI genotype) were associated with drug immunosuppression and fungemia, and patients infected with the CG species complex (83% VG II and 17% VGI genotypes) had more evident environmental exposure and higher humoral response. CN and CG affected patients with or without comorbidities. CONCLUSIONS: Diabetes mellitus, other chronic non-infectious diseases, and alcoholism were likely predisposing factors for infection by both CN and CG species. Immunocompetent patients, independent of the infecting Cryptococcus species complexes, showed a higher occurrence of meningitis and a trend toward less fungal dissemination and longer survival than immunosuppressed hosts.


Assuntos
Criptococose , Cryptococcus gattii , Cryptococcus neoformans , Brasil/epidemiologia , Criptococose/diagnóstico , Criptococose/epidemiologia , Cryptococcus gattii/genética , Cryptococcus neoformans/genética , Genótipo , Humanos , Polimorfismo de Fragmento de Restrição
3.
In Vivo ; 35(5): 2535-2540, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34410940

RESUMO

AIM: There is very little literature reporting the association of matrix metalloproteinase-1 (MMP1) with personal susceptibility to bladder cancer. In the current study, we carried out the first examination of the contribution of MMP1 rs1799750 to bladder cancer risk in Taiwanese. MATERIALS AND METHODS: A total of 375 bladder cancer cases and 375 healthy controls were genotyped for MMP1 rs1799750 via polymerase chain reaction-restriction fragment length polymorphism methodology and this was evaluated for association with clinicopathological factors. RESULTS: The frequencies of MMP1 rs1799750 2G/2G, 1G/2G, and 1G/1G genotypes were 35.7%, 44.8% and 19.5% in the group with bladder cancer and 32.5%, 46.4%, and 21.1% in the healthy control group (p for trend=0.6362). The odds ratios (ORs) for bladder cancer risk after adjusting for age and gender for those carrying 1G/2G and 1G/1G genotypes at MMP1 rs1799750 were 0.88 (95% CI=0.62-1.24, p=0.4357) and 0.83 (95% CI=0.61-1.26, p=0.3990), respectively, compared with the wild-type 2G/2G genotype. In allelic frequency analysis, the adjusted OR for those carrying the 1G allele at MMP1 rs1799750 was 0.87 (95% CI=0.71-1.23, p=0.3479) compared to those people carrying a 2G allele. CONCLUSION: Our findings indicated that the genotypes at MMP1 rs1799750 appear to play little role in determining personal susceptibility to bladder cancer for Taiwanese.


Assuntos
Metaloproteinase 1 da Matriz , Neoplasias da Bexiga Urinária , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Metaloproteinase 1 da Matriz/genética , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Neoplasias da Bexiga Urinária/epidemiologia , Neoplasias da Bexiga Urinária/genética
4.
Anticancer Res ; 41(7): 3309-3315, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34230126

RESUMO

BACKGROUND/AIM: Matrix metalloproteinase 9 (MMP9) is highly expressed in gastric cancer but the role of MMP9 is unclear. This study aimed at revealing the association of MMP9 promoter rs3918242 genotypes with gastric cancer risk. MATERIALS AND METHODS: MMP9 rs3918242 genotypes of 121 patients with gastric cancer and 363 healthy individuals were examined by polymerase chain reaction-restriction fragment length polymorphism methodology using serum samples. RESULTS: MMP9 rs3918242 TT genotype carriers had an elevated gastric cancer risk compared to wild-type CC carriers (odds ratio=3.92, 95% confidence interval=1.28-11.99; p=0.0103). Patients with CT/TT genotypes were at higher risk of metastasis (p=0.0178) than those with CC. No correlation was found between MMP9 rs3918242 genotype and gastric cancer risk with smoking or alcohol behavior, nor Helicobacter pylori infection. No correlation was observed for MMP9 rs3918242 genotypic distributions with age, gender, or body mass index. CONCLUSION: Carrying a T allele for MMP9 rs3918242 may be predictive for higher gastric cancer risk, and as a predictor for higher risk of metastasis.


Assuntos
Predisposição Genética para Doença/genética , Metaloproteinase 9 da Matriz/genética , Regiões Promotoras Genéticas/genética , Neoplasias Gástricas/genética , Estudos de Casos e Controles , Feminino , Genótipo , Infecções por Helicobacter/genética , Helicobacter pylori/patogenicidade , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Fragmento de Restrição/genética , Fatores de Risco
5.
Cent Eur J Public Health ; 29(2): 130-133, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34245553

RESUMO

OBJECTIVES: Vitamin D is a fat-soluble, prohormone vitamin that is important especially for bone mineralization and skeletal health. In recent years, vitamin D deficiency appeared as a worldwide problem, affecting many people in different ways including the Northern Cypriot population. The deficiency might be caused by the lack of exposure to sunlight, diet low in vitamin D, sedentary lifestyle, and also due to some genetic variations in the vitamin D receptor (VDR) gene. METHODS: In this study, four common VDR polymorphisms and associations with vitamin D deficiency in the Turkish Cypriot population between ages 18-40 and working in office conditions was studied by PCR- RFLP analysis. RESULTS: rs2228570 C>T variant was shown to be significantly associated with low serum vitamin D levels in the studied population. CONCLUSION: Together with the effect of rs2228570 C>T variant in the VDR gene, it is thought that the lifestyle changes in the Turkish Cypriot population might have caused the increased frequency of vitamin D deficiency in the young professionals.


Assuntos
Polimorfismo de Nucleotídeo Único , Deficiência de Vitamina D , Adolescente , Adulto , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Fragmento de Restrição , Seleção Genética , Vitamina D , Deficiência de Vitamina D/epidemiologia , Deficiência de Vitamina D/genética , Adulto Jovem
6.
Methods Mol Biol ; 2288: 49-72, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34270004

RESUMO

Molecular markers are employed for doubled haploid (DH) technology by researchers and applied plant breeders in many crops. In the 1990s, isozymes and RFLPs were commonly used marker technologies to characterize DHs and were later replaced by PCR- based markers (e.g., RAPDs, AFLPs, ISSRs, SSRs) and today by SNPs. Markers are used for multiple purposes in DH production, that is, for the study of genes underlying haploid induction and confirming homozygous plants of gametophytic origin. Furthermore, they are tools for investigating segregation in DH populations and for mapping simple and complex traits using DHs. The deployment of DHs and markers for developing trait-linked markers are demonstrated with examples from rapeseed, wheat, and barley. Marker development for resistance to viruses derived from genetic resources and their use in, for example, pyramiding of resistance genes, are given as an example for the combination of DH-technology and marker development in research. Today, marker systems amenable to automation are frequently used in applied plant breeding. Practical examples are given from Lantmännen (LM) ( https://Lantmannen.com ) using large-scale genotyping for variety development based on SSRs and SNPs.


Assuntos
Produtos Agrícolas/genética , Melhoramento Vegetal/métodos , Brassica napus/genética , Produtos Agrícolas/virologia , DNA de Plantas/genética , Diploide , Resistência à Doença/genética , Genes de Plantas , Marcadores Genéticos , Haploidia , Homozigoto , Hordeum/genética , Isoenzimas/genética , Biologia Molecular/métodos , Doenças das Plantas/genética , Doenças das Plantas/virologia , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único , Triticum/genética
7.
Egypt J Immunol ; 28(3): 94-101, 2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-34185458

RESUMO

Stromal cell derived factor - 1 (SDF-1) is expressed by bone marrow derived stromal cells and stromal tissues in multiple organs. SDF-1 possesses diverse physiological and biochemical functions concerning autoimmunity and inflammation. SDF-1 gene polymorphisms play various roles in immune related diseases. This study aimed to evaluate association of SDF-1ß G801A gene polymorphism and type 2 diabetes mellitus (T2DM) as regard prevalence and glycemic control. The study included hundred Egyptian subjects; 50 patients with T2DM recruited from the Internal Medicine Department, Beni-Suef University Hospital, and 50 age and sex matched healthy subjects. Participants were subjected to full clinical examination and routine laboratory investigations including fasting blood glucose, 2 hours post prandial blood glucose, serum creatinine, lipid profile and glycated hemoglobin (HbA1c). SDF-1ß G801A gene polymorphism was analyzed using polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP). The frequency of GG and AG genotypes was higher in patients compared to controls with no statistical significance. Higher frequency of homozygous GG genotype and G allele were observed among patients with poor glycemic control (HbA1c ≥ 8% ) compared to those with good glycemic control (HbA1c < 8%) (P = 0.001 and 0.018 respectively). In conclusion, this study suggested an association between SDF-1 ß gene polymorphism and type 2 diabetes mellitus in Egyptian patients. Further studies are needed to confirm our observations.


Assuntos
Diabetes Mellitus Tipo 2 , Estudos de Casos e Controles , Quimiocina CXCL12/genética , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Egito , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único
8.
FEMS Microbiol Ecol ; 97(8)2021 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-34180510

RESUMO

Disease has become an increasingly recognised problem in the marine environment, but our understanding of the factors that drive disease or our ability to predict its occurrence is limited. Marine sponges are known for their close associations with microorganisms, which are generally accepted to underpin sponge health and function. The aim of this study is to explore whether the microbial community composition of sponges can act as a predictor of disease occurrence under stressful environmental conditions. The development of a naturally occurring disease in the temperate sponge species Scopalina sp. was reproducibly recreated in a flow-through aquarium environment using increasing temperature stress. Throughout the experiments, four morphological health states were observed and described. Fingerprinting based on terminal restriction fragment length polymorphism of the bacterial community uncovered a statistically significant signature in healthy sponges prior to stress or apparent symptoms that correlated with the time it took for the disease to occur. This shows that the bacterial community composition of individual sponges can act as predictors of necrotic disease development. To the best of our knowledge, this is the first time a microbial signature of this nature has been reported in marine sponges and this finding can contribute to unravelling cause-effect pathways for stress-related dysbiosis and disease.


Assuntos
Microbiota , Poríferos , Animais , Bactérias/genética , Disbiose , Filogenia , Polimorfismo de Fragmento de Restrição
9.
J Equine Vet Sci ; 102: 103458, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34119210

RESUMO

Having considered that the current methods are costly and time-consuming, we designed an only 3 pairs primer-based PCR test to accurately identify the species and gender in horses, donkeys, mules and hinnies. Through a thorough sequence comparison between horse and donkey's highly similar genomes, and a vast amount of preliminary confirmation, we found that three fragments, CNGB3 gene on an autosome, displacement loop region on mitochondrial DNA and SRY genes on chromosome Y, within these equine DNA, are enough to enable us achieving our goal. The PCR test described here would be an economical, fast and accurate alternative for the most commonly-used methods, polymerase chain reaction-restriction fragment length polymorphism, microsatellite assay, and sequencing.


Assuntos
Equidae , Cromossomo Y , Animais , Equidae/genética , Cavalos/genética , Repetições de Microssatélites/genética , Reação em Cadeia da Polimerase/veterinária , Polimorfismo de Fragmento de Restrição
10.
Braz J Biol ; 82: e241110, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34133560

RESUMO

Plasmodium vivax is the most common human malaria parasite in Asian countries including Pakistan. Present study was designed to explore the genetic diversity of plasmodium vivax genotypes based on Pvmsp-3α and Pvmsp-3ßgenes using allelic specific nested PCR and RFLP assays markers from field isolates in district Mardan, Pakistan. Blood samples of 200 P. vivax malarial patients were collected after taking their written informed consent. Genetic diversity in nested PCR products was determined by Restriction Fragment Length Polymorphism (RFLP) utilizing Alu1 and PstI restriction enzymes for alpha and beta gene products digestion, respectively. For analysis the genetic diversity of the sub allelic variants of Pvmsp3α and Pvmsp3ß genes, Chi-Square test was performed by utilizing Minitab programming software 18. The P value 0.05 was considered as statistically significant. For Pvmsp-3α genes after gel electrophoresis of digested products, four distinct genotypes were obtained from total of 50 samples; type A: 35 (70%) (1.5-2.0 kb), 12 of type B (24%) (1.5-1.7 kb), 2 of type C (4%) (0.5-1.5) and one for type D (2%) (0.5-0.65 kb) which could be characterized into 9 allelic pattern (A1-A4, B1-B3, C1, D), in which A3 remained the most predominant. For Pvmsp-3ßgenes, three distinct genotypes were obtained from 50 samples; 40(80%) of type A (1.5-2.5 kb), 9 (18%) of type B (1.0-1.5kb) and 1(2%) of type C (0.65 kb) which could be characterized into 6 allelic patterns (A1-A3, B1-B2, and C1). Most dominant one in Type A was A1 alleles which were noted (46%), while in Type B, the most dominant were B1 (10%).This study is the first ever report of molecular epidemiology and genetic variation in Pvmsp-3α and Pvmsp-3ß genes of P. vivax isolates by using PCR/RFLP from District Mardan and showed a remarkable level of genetic diversity in the studied genes of circulating parasites in the study area. The results of this study will contribute in future studies about the genetic structure of parasite and vaccine development against the malaria.


Assuntos
Plasmodium vivax , Proteínas de Protozoários , Variação Genética , Genótipo , Humanos , Paquistão , Plasmodium vivax/genética , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Proteínas de Protozoários/genética
11.
Comp Immunol Microbiol Infect Dis ; 77: 101677, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34116387

RESUMO

OBJECTIVE: Toxoplasma gondii is a protozoan parasite that is widely prevalent in most warm-blooded vertebrates. Humans mainly become infected by eating raw or undercooked meat. This study was designed to investigate the infection of cattle with T. gondii in Jahrom, southern Iran. METHODS: Tissue samples consisting of heart, diaphragm, and tongue were collected from 125 slaughtered cattle. DNA samples were extracted from the homogenized tissues. T. gondii was detected and genotyped using nested-polymerase chain reaction (Nested-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) based on GRA6 and SAG2 (3', 5' terminal regions) genes, respectively. RESULTS: The prevalence of T. gondii DNA was 56% in cattle. The most infected tissue was the diaphragm (54.4%) followed by the heart (48.8%) and tongue (43.2%). Type II was the most prevalent genotype (70%) among T. gondii isolates. CONCLUSION: In this study, the high prevalence of T. gondii infection in cattle meat indicates the important role of cattle in the transmission of infection to humans. Therefore, incorporating the correct method of consuming meat in health education programs is crucial to prevent human infection.


Assuntos
Doenças dos Bovinos , Toxoplasma , Toxoplasmose Animal , Animais , Bovinos , Doenças dos Bovinos/epidemiologia , DNA de Protozoário/genética , Genótipo , Irã (Geográfico)/epidemiologia , Reação em Cadeia da Polimerase/veterinária , Polimorfismo de Fragmento de Restrição , Toxoplasma/genética , Toxoplasmose Animal/diagnóstico , Toxoplasmose Animal/epidemiologia
12.
Pan Afr Med J ; 38: 287, 2021.
Artigo em Francês | MEDLINE | ID: mdl-34122714

RESUMO

Colorectal cancer (CRC) is a major global public health problem. Folate metabolism is involved in DNA synthesis, repair and methylation. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Common MTHFR C677T polymorphism was correlated to CRC. This case-control study was conducted to analyze the association between this polymorphism and the risk of sporadic CRC in a Moroccan population. The study involved 76 patients with sporadic colorectal cancer confirmed histologically and 182 patients (control group) without a history of cancer. Deoxyribonucleic acid (DNA) was isolated from peripheral blood and genotypes were determined using PCR-RFLP. The risk of association was estimated using odds ratio (OR) with 95% confidence interval. Genotype frequency of MTHFR in patients and in the control group was CC 34.1%, CT 56.6%, TT 9.21%, CC 51.6%, CT 42.8% and TT 6% respectively. CT genotype and its combination with TT genotype and allele T were associated with an increased risk of CRC and with an OR of 2.02 (with 95% confidence interval [CI]: 1.14-3.58, p = 0.01), 2.05 (95 % CI: 1.18-3.58, p= 0.01) and 1.61 (95% CI: 1.07-2.40, p=0.02). Homozygous TT weren´t a protection factor in our study, with an OR of 2.30 (95% CI: 0.81-6.52, p = 0.11). There was a statistically significant association between the MTHFR C677T variant and the risk of occurrence of sporadic colorectal cancer in the studied population.


Assuntos
Neoplasias Colorretais/genética , Predisposição Genética para Doença , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos , Reação em Cadeia da Polimerase , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição
13.
Gene ; 793: 145750, 2021 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-34077777

RESUMO

OBJECTIVE: Graves' disease (GD) is a common autoimmune disease manifesting with diffuse symmetric thyroid gland enlargement, pretibial myxedema, and Graves' ophthalmopathy (GO). Recently, the vitamin D receptor (VDR) gene has been linked to various autoimmune diseases. This study aimed to investigate the association of VDR gene polymorphisms with susceptibility to GD and GO in the Southwest Chinese Han population. METHODS: A two-stage association study was performed in 1,209 controls and 650 GD patients by PCR-RFLP assay. Real-time PCR and ELISA were carried out to quantify gene expression and cytokine production. RESULTS: The first-stage study showed that the frequency of VDR/Apa I AA genotype was significantly increased in GD (Pc = 1.67 × 10-2, OR = 1.98). The second-stage and combined studies confirmed the association of VDR/Apa I with GD (AA genotype: Pc = 3.45 × 10-4, OR = 1.87; A allele: Pc = 2.62 × 10-2, OR = 1.20). The stratification analysis showed that GO patients had a higher frequency of the VDR/Apa I AA genotype (Pc = 8.69 × 10-5, OR = 2.84). Functional experiments showed a decreased VDR expression and TGF-ß1 production as well as an increased IL-17 production in VDR/Apa I AA genotype carriers. CONCLUSION: The VDR/Apa I polymorphism is significantly associated with GD and GO, and it may be involved in the development of GD and GO by influencing VDR mRNA expression levels and the secretion levels of cytokines.


Assuntos
Predisposição Genética para Doença , Oftalmopatia de Graves/genética , Polimorfismo de Nucleotídeo Único , Receptores de Calcitriol/genética , Adulto , Alelos , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , Desoxirribonucleases de Sítio Específico do Tipo II/química , Feminino , Expressão Gênica , Frequência do Gene , Estudo de Associação Genômica Ampla , Oftalmopatia de Graves/etnologia , Oftalmopatia de Graves/imunologia , Oftalmopatia de Graves/patologia , Humanos , Interleucina-17/genética , Interleucina-17/imunologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Fragmento de Restrição , RNA Mensageiro/genética , RNA Mensageiro/imunologia , Receptores de Calcitriol/imunologia , Fator de Crescimento Transformador beta1/genética , Fator de Crescimento Transformador beta1/imunologia
14.
Trop Anim Health Prod ; 53(2): 316, 2021 May 12.
Artigo em Inglês | MEDLINE | ID: mdl-33977374

RESUMO

The present study was conducted to identify the polymorphism of estrogen receptor (ESR) gene and its biological association with litter traits (litter size at birth, litter size at weaning, litter weight at birth and litter weight at weaning) of Doom pigs native to Assam. A total of 50 adult pigs (12 males and 38 females) chosen randomly from three different herds (Herd I, Herd II, and Herd III) were utilized in the present study. Detection of polymorphism of ESR gene was done by means of PCR-RFLP method. The amplified PCR product was digested with Pvu II restriction enzyme. PCR-RFLP analysis of ESR gene revealed polymorphic banding pattern. Two genotypes viz. AA and AB were identified. AA genotype yielded one fragment (120 bp) and AB genotype yielded three fragments (120, 65, and 55 bp). BB genotype was not found in the population under study. The frequencies of A and B alleles were found to be 0.650 and 0.350, respectively, and the genotypic frequencies of ESR gene were found to be 0.300 and 0.700 for AA and AB genotypes, respectively. There was no significant (P > 0.05) effect of ESR genotype on litter traits and the population under study was not in Hardy-Weinberg Equilibrium for ESR gene. Clustal W Multiple alignment of partial sequence of ESR gene revealed single nucleotide changes at 33, 65, 70, 83, and 92nd nucleotide positions. The presence of Pvu II polymorphism and identification of single nucleotide variation of ESR gene opens interesting prospects for improvement of litter traits in Doom pig through selective breeding program, especially based on marker-assisted selection.


Assuntos
Receptores de Estrogênio , Alelos , Animais , Feminino , Frequência do Gene , Genótipo , Tamanho da Ninhada de Vivíparos/genética , Masculino , Polimorfismo de Fragmento de Restrição , Gravidez , Receptores de Estrogênio/genética , Sus scrofa , Suínos/genética
15.
Medicine (Baltimore) ; 100(20): e25922, 2021 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-34011063

RESUMO

BACKGROUND: Numerous studies have investigated the associations between Vitamin D receptor (VDR) gene polymorphisms and risk of intervertebral disc degeneration but the results remain controversial. This study aimed to drive a more precise estimation of association between VDR gene polymorphisms and risk of intervertebral disc degeneration. METHODS: PubMed, EMBASE, Cochrane library, Web of Science and China Knowledge Resource Integrated Database for papers on VDR gene polymorphisms and risk of intervertebral disc degeneration were searched. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association in the homozygote model, heterozygote model, dominant model, recessive model and an additive model. RESULTS: Overall, 23 articles were included in the final meta-analysis. The subgroup analyses by ethnicity showed a significant association of VDR FokI mutation with disc degeneration risk in Caucasians (recessive model, OR with 95%CI 1.301, [1.041, 1.626]; additive model, OR with 95%CI 1.119, [1.006, 1.245]). The results of subgroup analyses by ethnicity showed a significant association of VDR TaqI mutation with disc degeneration risk in Asians but not in Caucasians. There was a significant association between VDR ApaI mutation and risk of disc degeneration and subgroup analyses by ethnicity showed a significant association in Caucasians and in Asians. CONCLUSIONS: In summary, VDR FokI polymorphisms was associated with disc degeneration risk among Caucasians but not Asians, VDR TaqI polymorphisms was associated with disc degeneration risk among Asians but not Caucasians, while VDR ApaI polymorphism was associated with disc degeneration risk among Asians and Caucasians.


Assuntos
Predisposição Genética para Doença , Degeneração do Disco Intervertebral/genética , Dor Lombar/genética , Receptores de Calcitriol/genética , Grupo com Ancestrais do Continente Asiático/genética , Estudos de Casos e Controles , Grupo com Ancestrais do Continente Europeu/genética , Humanos , Degeneração do Disco Intervertebral/complicações , Degeneração do Disco Intervertebral/epidemiologia , Dor Lombar/epidemiologia , Razão de Chances , Polimorfismo de Fragmento de Restrição
16.
Medicine (Baltimore) ; 100(16): e25508, 2021 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-33879686

RESUMO

BACKGROUND: Several studies have been performed to investigate the association between vitamin D receptor (VDR) gene polymorphism and acute pancreatitis, but the results are inconclusive. We conducted this meta-analysis for a precise estimation of the association between BsmI (rs1544410), ApaI (rs7975232), TaqI (rs731236), and FokI (rs2228570) polymorphisms and acute pancreatitis. METHODS: Appropriate studies were retrieved by searching Web of Science, PubMed, Scopus, and Google scholar databases, until January 31, 2021. Two reviewers independently conducted data extraction and literature quality evaluation. Odds ratios and 95% confidence intervals were calculated to evaluate the strength of the association.All of the data were analyzed with Stata 16.0. RESULTS: The results of this meta-analysis will be submitted to a peer-reviewed journal for publication. CONCLUSIONS: This meta-analysis will summarize the association between BsmI, ApaI, TaqI, and FokI polymorphisms and the risk of acute pancreatitis. ETHICS AND DISSEMINATION: Ethical approval was not required for this study. The systematic review will be published in a peer-reviewed journal, presented at conferences, and shared on social media platforms. OSF REGISTRATION NUMBER: DOI 10.17605/OSF.IO/83W7R.


Assuntos
Predisposição Genética para Doença , Pancreatite/genética , Receptores de Calcitriol/genética , Humanos , Metanálise como Assunto , Razão de Chances , Pancreatite/epidemiologia , Polimorfismo de Fragmento de Restrição , Fatores de Risco , Revisões Sistemáticas como Assunto
17.
BMC Vet Res ; 17(1): 162, 2021 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-33853591

RESUMO

BACKGROUND: Leishmania parasites express various essential proteins in different growth phases (logarithmic/stationary) and forms (promastigote/amastigote). Targeting the genes encoding such proteins paves the way for controlling these parasites. Centrin is an essential gene, which its protein product seems to be vital for the proliferation of Leishmania parasites. Herein, this study was contrived to analyze the expression level of the centrin gene in different growth phases and forms of Leishmania infantum (L. infantum) parasites isolated from various endemic areas of canine leishmaniasis (CanL) in Iran. RESULTS: All three collected isolates were identified as L. infantum using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Real-time reverse transcription (RT)-PCR revealed a statistically significant up-regulation (3.13-fold) in the logarithmic phase promastigotes compared to stationary ones (p < 0.01), whereas centrin was expressed equally in intracellular amastigotes at different time points during cell culture. Also, our finding revealed a slight up-regulation of the centrin gene (1.22-fold) in the intracellular amastigotes compared to logarithmic phase promastigotes, which was found statistically non-significant (p > 0.05). CONCLUSIONS: Centrin gene in Iranian isolates of L. infantum is more expressed in exponential than stationary phases and seems to be considered as a promising target in the development of a genetically modified live attenuated vaccine for CanL control.


Assuntos
Doenças do Cão/parasitologia , Leishmania infantum/genética , Leishmania infantum/metabolismo , Leishmaniose/veterinária , Combinação Trimetoprima e Sulfametoxazol/metabolismo , Animais , Cães , Regulação da Expressão Gênica , Irã (Geográfico) , Leishmania infantum/crescimento & desenvolvimento , Estágios do Ciclo de Vida , Polimorfismo de Fragmento de Restrição , Reação em Cadeia da Polimerase em Tempo Real/veterinária
18.
PLoS Negl Trop Dis ; 15(4): e0009317, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33826630

RESUMO

BACKGROUND: Paracoccidioidomycosis (PCM) is a systemic and endemic fungal infection in Latin American, mainly in Brazil. The majority of PCM cases occur in large areas in Brazil, comprising the South, Southeast and Midwest regions, with the latter demonstrating a higher incidence of the species Paracoccidioides lutzii. METHODOLOGY AND MAIN FINDINGS: This study presents clinical, molecular and serological data of thirteen new PCM cases during 2016 to 2019 from the state of Mato Grosso do Sul, located in the Midwest region, Brazil. From these thirteen cases, sixteen clinical isolates were obtained and their genomic DNAs were subjected to genotyping by tub1 -PCR-RFLP. Results showed Paracoccidioides brasiliensis sensu stricto (S1) (11/16; 68.8%), Paracoccidioides restrepiensis (PS3) (4/16; 25.0%) and P. lutzii (1/16; 6.2%) as Paracoccidiodes species. Therefore, in order to understand whether the type of phylogenetic species that are circulating in the state influence the reactivity profile of serological tests, we performed double agar gel immunodiffusion (DID), using exoantigens from genotyped strains found in this series of PCM cases. Overall, our DID tests have been false negative in about 30% of confirmed PCM cases. All patients were male, most with current or previous rural activity, with ages ranging from 17 to 59 years, with 11 patients (84.6%) over 40 years of age. No clinical or epidemiological differences were found between Paracoccidioides species. However, it is important to note that the only case of P. lutzii died as an outcome. CONCLUSIONS: This study suggests P. brasiliensis sensu stricto (S1) as the predominant species, showing its wide geographic distribution in Brazil. Furthermore, our findings revealed, for the first time, the occurrence of P. restrepiensis (PS3) in the state of Mato Grosso do Sul, Brazil. Despite our setbacks, it would be interesting to provide the complete sequencing of these clinical isolates to complement the molecular information presented.


Assuntos
Antígenos de Fungos/imunologia , Paracoccidioides/imunologia , Paracoccidioidomicose/imunologia , Paracoccidioidomicose/microbiologia , Adolescente , Adulto , Anticorpos Antifúngicos/imunologia , Brasil/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular , Paracoccidioides/classificação , Paracoccidioides/isolamento & purificação , Paracoccidioidomicose/diagnóstico , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Sorotipagem , Adulto Jovem
19.
PLoS Negl Trop Dis ; 15(4): e0009288, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33872307

RESUMO

BACKGROUND: Visceral leishmaniasis (VL) is re-emerging in Armenia since 1999 with 167 cases recorded until 2019. The objectives of this study were (i) to determine for the first time the genetic diversity and population structure of the causative agent of VL in Armenia; (ii) to compare these genotypes with those from most endemic regions worldwide; (iii) to monitor the diversity of vectors in Armenia; (iv) to predict the distribution of the vectors and VL in time and space by ecological niche modeling. METHODOLOGY/PRINCIPAL FINDINGS: Human samples from different parts of Armenia previously identified by ITS-1-RFLP as L. infantum were studied by Multilocus Microsatellite Typing (MLMT). These data were combined with previously typed L. infantum strains from the main global endemic regions for population structure analysis. Within the 23 Armenian L. infantum strains 22 different genotypes were identified. The combined analysis revealed that all strains belong to the worldwide predominating MON1-population, however most closely related to a subpopulation from Southeastern Europe, Maghreb, Middle East and Central Asia. The three observed Armenian clusters grouped within this subpopulation with strains from Greece/Turkey, and from Central Asia, respectively. Ecological niche modeling based on VL cases and collected proven vectors (P. balcanicus, P. kandelakii) identified Yerevan and districts Lori, Tavush, Syunik, Armavir, Ararat bordering Georgia, Turkey, Iran and Azerbaijan as most suitable for the vectors and with the highest risk for VL transmission. Due to climate change the suitable habitat for VL transmission will expand in future all over Armenia. CONCLUSIONS: Genetic diversity and population structure of the causative agent of VL in Armenia were addressed for the first time. Further genotyping studies should be performed with samples from infected humans, animals and sand flies from all active foci including the neighboring countries to understand transmission cycles, re-emergence, spread, and epidemiology of VL in Armenia and the entire Transcaucasus enabling epidemiological monitoring.


Assuntos
Doenças Transmissíveis Emergentes/diagnóstico , Leishmania infantum/genética , Leishmaniose Visceral/diagnóstico , Leishmaniose Visceral/epidemiologia , Repetições de Microssatélites , Armênia/epidemiologia , Pré-Escolar , Doenças Transmissíveis Emergentes/epidemiologia , Doenças Transmissíveis Emergentes/parasitologia , Ecossistema , Feminino , Genótipo , Humanos , Lactente , Leishmaniose Visceral/parasitologia , Masculino , Epidemiologia Molecular , Tipagem Molecular , Projetos Piloto , Polimorfismo de Fragmento de Restrição , Medição de Risco
20.
Viruses ; 13(4)2021 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-33924242

RESUMO

Complications of hepatitis C virus (HCV) chronic infection cause ~400,000 deaths worldwide annually. One complication, liver fibrosis, is influenced by host genetic factors. Genes influencing fibrosis include immune, metabolic, oxidative stress, and viral entry genes, such as interleukin 10 (IL10), microsomal triglyceride-transfer protein (MTP), superoxide dismutase-2 (SOD2), and apolipoprotein E (APOE)-encoding genes, respectively. Thus, correlating variations in these genes with HCV-induced fibrosis represents an attractive biomarker for the prognosis of fibrosis severity in chronically infected patients. Here, we aimed to test whether polymorphisms in IL10, MTP, SOD2, and APOE genes correlated with the severity of fibrosis induced by HCV genotype 4 (HCV-gt4) in a cohort of chronically infected Egyptian patients. Our results demonstrate a significant association between the severity of fibrosis and specific SNPs in IL-10, SOD2, and ApoE-encoding genes. Haplotype-combination analysis for IL10, MTP, SOD2, and APOE showed statistically significant associations between specific haplotype combinations and fibrosis severity. Identifying biomarkers correlating with the severity of HCV-gt4-induced fibrosis would significantly impact precision prophylaxis and treatment of patients at risk.


Assuntos
Apolipoproteínas E/genética , Hepacivirus/patogenicidade , Interleucina-10/genética , Cirrose Hepática/virologia , Proteínas de Membrana Transportadoras/genética , Polimorfismo de Nucleotídeo Único , Índice de Gravidade de Doença , Superóxido Dismutase/genética , Adulto , Estudos de Coortes , Egito , Feminino , Predisposição Genética para Doença , Genótipo , Hepacivirus/genética , Hepacivirus/imunologia , Hepatite C Crônica/virologia , Humanos , Cirrose Hepática/genética , Cirrose Hepática/imunologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Fragmento de Restrição , Adulto Jovem
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