RESUMO
Globally, cardiac arrest (CA) is a leading cause of death and disability. Asphyxial CA (ACA)-induced kidney damage is a crucial factor in reducing the survival rate. The purpose of this study was to investigate the role of antioxidant enzymes in histopathological renal damage in an ACA rat model at different time points. A total of 88 rats were divided into five groups and exposed to ACA except for the sham group. To evaluate glomerular function and oxidative stress, serum levels of blood urea nitrogen (BUN) and creatinine (Crtn) and malondialdehyde (MDA) levels in renal tissues were measured. To determine histopathological damage, hematoxylin and eosin staining, periodic acid-Schiff staining, and Masson's trichrome staining were performed. Expression levels of antioxidant enzymes including superoxide dismutase-1 (SOD-1), superoxide dismutase-2 (SOD-2), catalase (CAT), and glutathione peroxidase (GPx) were measured by immunohistochemistry (IHC). Survival rate of the experimental rats was reduced to 80% at 6 h, 55% at 12 h, 42.9% at 1 day, and 33% at 2 days after return of spontaneous circulation. Levels of BUN, Crtn, and MDA started to increase significantly in the early period of CA induction. Renal histopathological damage increased markedly from 6 h until two days post-CA. Additionally, expression levels of antioxidant enzymes were significantly decreased at 6 h, 12 h, 1 day, and 2 days after CA. CA-induced oxidative stress and decreased levels of antioxidant enzymes (SOD-1, SOD-2, CAT, GPx) from 6 h to two days could be possible mediators of severe renal tissue damage and increased mortality rate.
Assuntos
Antioxidantes , Nefropatias , Ratos , Animais , Antioxidantes/farmacologia , Rim/patologia , Catalase , Estresse Oxidativo , Nefropatias/patologia , Superóxido Dismutase , Glutationa Peroxidase/metabolismo , Malondialdeído/metabolismoRESUMO
Globally, cardiac arrest (CA) is a leading cause of death and disability. Asphyxial CA (ACA)-induced kidney damage is a crucial factor in reducing the survival rate. The purpose of this study was to investigate the role of antioxidant enzymes in histopathological renal damage in an ACA rat model at different time points. A total of 88 rats were divided into five groups and exposed to ACA except for the sham group. To evaluate glomerular function and oxidative stress, serum levels of blood urea nitrogen (BUN) and creatinine (Crtn) and malondialdehyde (MDA) levels in renal tissues were measured. To determine histopathological damage, hematoxylin and eosin staining, periodic acid-Schiff staining, and Masson's trichrome staining were performed. Expression levels of antioxidant enzymes including superoxide dismutase-1 (SOD-1), superoxide dismutase-2 (SOD-2), catalase (CAT), and glutathione peroxidase (GPx) were measured by immunohistochemistry (IHC). Survival rate of the experimental rats was reduced to 80% at 6 h, 55% at 12 h, 42.9% at 1 day, and 33% at 2 days after return of spontaneous circulation. Levels of BUN, Crtn, and MDA started to increase significantly in the early period of CA induction. Renal histopathological damage increased markedly from 6 h until two days post-CA. Additionally, expression levels of antioxidant enzymes were significantly decreased at 6 h, 12 h, 1 day, and 2 days after CA. CA-induced oxidative stress and decreased levels of antioxidant enzymes (SOD-1, SOD-2, CAT, GPx) from 6 h to two days could be possible mediators of severe renal tissue damage and increased mortality rate.
RESUMO
PURPOSE: Abdominal lymph node (ALN) recurrence in gastric cancer (GC) is rare and usually unresectable. We investigated the effects of integration of radiotherapy (RT) and chemotherapy against ALN recurrence in GC. METHODS: We retrospectively categorized GC patients with ALN recurrence treated between 2005 and 2013 into two groups: those treated with integration of RT and chemotherapy (RCT) and those who received systemic chemotherapy only (CT). The median follow-up period after ALN recurrence for all patients was 20 months. RESULTS: Of 53 patients, 31 and 22 were in the RCT and CT groups, respectively. Isolated distant failure (DF; 35.5%) without local progression (LP) was the dominant pattern of failure (POF) in the RCT group (median DF-free period, 26 months). LP followed by DF (31.8%) was the dominant POF in the CT group; LP (median LP-free period, 8 months) occurred 10 months earlier than DF (median DF-free period, 18 months). RCT patients had significantly longer median progression-free survival (PFS) compared to CT patients (25 vs. 8 months; P = 0.021). On multivariate analysis, treatment (CT vs. RCT) was an independent prognostic factor for PFS (hazard ratio 2.085; 95% confidence interval 1.073-4.050; P = 0.013). CONCLUSIONS: Integration of RT and chemotherapy achieved long-term local control and prolonged PFS in GC patients with ALN recurrence. Local RT is feasible for treating isolated ALN recurrences.
Assuntos
Adenocarcinoma/terapia , Carcinoma de Células em Anel de Sinete/terapia , Quimiorradioterapia , Linfonodos/patologia , Recidiva Local de Neoplasia/prevenção & controle , Neoplasias Gástricas/terapia , Adenocarcinoma/secundário , Adulto , Idoso , Carcinoma de Células em Anel de Sinete/secundário , Feminino , Seguimentos , Humanos , Linfonodos/efeitos dos fármacos , Linfonodos/efeitos da radiação , Metástase Linfática , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica , Recidiva Local de Neoplasia/patologia , Prognóstico , Estudos Retrospectivos , Neoplasias Gástricas/patologia , Taxa de SobrevidaRESUMO
Odontobutis obscura is a bottom-dwelling freshwater fish native to East Asia. Its range encompasses southwest China, western Japan, and Geoje Island in South Korea. Despite its widespread range in China and Japan, only a small and spatially isolated population is found in South Korea. We developed a total of 23 novel and polymorphic microsatellite loci of O. obscura using Illumina paired-end shotgun sequencing and characterized them using 80 Japanese and Korean samples. An extensive genetic polymorphism was detected at these 23 loci, with the observed number of alleles at a locus ranging from 2 to 15 and expected and observed heterozygosities ranging from 0 to 0.656 and 0 to 0.547, respectively. Korean O. obscura exhibited a much lower level of genetic variability than the Japanese population did, probably as a result of long-term isolation combined with historical bottlenecks. The Japanese and Korean populations showed a high level of genetic differentiation with FST = 0.700 and RST = 0.913. Many of our primer sets were successfully transferable to congeneric O. interrupta and O. platycephala, which exhibited even greater polymorphism than Korean O. obscura. In conclusion, our study showed that these 23 microsatellite markers are useful for understanding the conservation biology and population genetic structure of O. obscura and other congeneric species.
Assuntos
Loci Gênicos , Genética Populacional , Genoma , Repetições de Microssatélites , Perciformes/genética , Alelos , Animais , Mapeamento Cromossômico , Água Doce , Heterozigoto , Polimorfismo Genético , Análise de Sequência de DNARESUMO
Methods to identify Pinelliae Tuber and Arisaematis Rhizoma are required because of frequent reciprocal substitution between these two herbal medicines and the existence of several closely related plant materials. As a result of the morphological similarity of dried tubers, correct discrimination of authentic herbal medicines is difficult by conventional methods. Therefore, we analyzed DNA barcode sequences to identify each herbal medicine and the common adulterants at a species level. To verify the identity of these herbal medicines, we collected five authentic species (Pinellia ternata for Pinelliae Tuber, and Arisaema amurense, A. amurense var. serratum, A. erubescens, and A. heterophyllum for Arisaematis Rhizoma) and six common adulterant plant species. Maturase K (matK) and ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) genes were then amplified using universal primers. In comparative analyses of two DNA barcode sequences, we obtained 45 species-specific nucleotides sufficient to identify each species (except A. erubescens with matK) and 28 marker nucleotides for each species (except P. pedatisecta with rbcL). Sequence differences at corresponding positions of the two combined DNA barcodes provided genetic marker nucleotides that could be used to identify specimens of the correct species among the analyzed medicinal plants. Furthermore, we generated a phylogenetic tree showing nine distinct groups depending on the species. These results can be used to authenticate Pinelliae Tuber and Arisaematis Rhizoma from their adulterants and to identify each species. Thus, comparative analyses of plant DNA barcode sequences identified useful genetic markers for the authentication of Pinelliae Tuber and Arisaematis Rhizoma from several adulterant herbal materials.
Assuntos
Arisaema/genética , Código de Barras de DNA Taxonômico , Genes de Plantas , Pinellia/genética , Plantas Medicinais/genética , Arisaema/classificação , Sequência de Bases , Dados de Sequência Molecular , Filogenia , Pinellia/classificação , Plantas Medicinais/classificaçãoRESUMO
The aim of this study was to explore whether vascular endothelial growth factor (VEGF) polymorphisms confer susceptibility to psoriasis. Meta-analyses were conducted to examine the associations between the +405 C/G, -460 C/T, -1154 A/G, and -2578 A/C polymorphisms of VEGF and psoriasis using allele contrast and recessive, dominant, and additive models. Seven studies on VEGF polymorphisms and psoriasis involving 1956 subjects (psoriasis patients 665, controls 1291) were included in this meta-analysis. We observed no association between psoriasis and the VEGF +405 C allele in all study subjects (odds ratio = 0.984, 95% confidence interval = 0.754-1.285, P = 0.906), but stratification by ethnicity indicated a significant association between the VEGF +405 C allele and psoriasis in Asians (odds ratio = 0.762, 95% confidence interval = 0.628-0.923, P = 0.005). In addition, we observed a significant association between the VEGF -460 C allele and psoriasis in Europeans (odds ratio = 0.807, 95% confidence interval = 0.672-0.968, P = 0.021). Meta-analyses of the -1154 A/G polymorphism also revealed a significant association with psoriasis in Europeans. However, the VEGF -2578 A/C polymorphism showed no association in all subjects or in Europeans or Asians. This meta-analysis suggests the VEGF +405 C/G polymorphism confers susceptibility to psoriasis in Asians, and that the -460 C/T and -1154 A/G polymorphisms confer susceptibility to psoriasis in Europeans.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Psoríase/genética , Fator A de Crescimento do Endotélio Vascular/genética , Alelos , Povo Asiático/genética , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Psoríase/patologia , População Branca/genéticaRESUMO
The aim of this study was to explore whether estrogen receptor 1 (ESR1) PvuII and XbaI polymorphisms are associated with susceptibility to Alzheimer's disease (AD). We conducted a meta-analysis of the associations between AD and ESR1 PvuII and XbaI polymorphisms as well as haplotypes of the ESR1 PvuII and XbaI polymorphisms. A total of 1359 patients and 1387 controls from 9 studies on the ESR1 PvuII polymorphism and 1525 patients and 1575 controls from 8 studies on the ESR1 XbaI polymorphism were included in this meta-analysis. Gender-specific meta-analysis showed an association between the ESR1 PP+Pp genotype and AD in males (OR = 0.302, 95%CI = 0.100-0.914, P = 0.034), but not in females. No association was observed between AD and the ESR1 XbaI X allele (OR = 1.114, 95%CI = 0.868-1.429, P = 0.397). However, country-specific meta-analysis identified an association between AD and the ESR1 X allele in Japanese (OR = 1.386, 95%CI = 1.055-1.822, P = 0.019), but not Chinese or Italian populations. Meta-analyses results indicated an association between the PP/XX haplotypes and AD in Chinese population (OR for PP/XX vs others = 2.758, 95%CI = 1.750-4.346, P = 1.2 x 10(-6)). This meta-analysis showed associations between the ESR1 PvuII polymorphism and AD susceptibility in males, between AD risk and the ESR1 XbaI polymorphism in the Japanese population, and between the PP/XX haplotype and AD susceptibility in the Chinese population.
Assuntos
Doença de Alzheimer/genética , Receptor alfa de Estrogênio/genética , Predisposição Genética para Doença , Polimorfismo de Fragmento de Restrição , Alelos , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Haplótipos , Humanos , Masculino , Razão de Chances , Viés de PublicaçãoRESUMO
The aim of this study was to determine whether tumor necrosis factor-α (TNF-α) polymorphisms are associated with susceptibility to pulmonary tuberculosis (PTB) in different ethnic populations. MEDLINE and Embase databases and manual searches were employed to identify articles in which TNF-α polymorphisms were determined in patients with PTB and controls. A meta-analysis was conducted on the associations of the TNF-α -308A/G, -238A/G, and -857T/C polymorphisms with PTB susceptibility. A total of 13 studies met the inclusion criteria, including 12, 6, and 4 studies on TNF-α -308A/G, -238A/G, and -857T/C polymorphisms, respectively. Meta-analysis showed no association between the TNF-α -308A allele and PTB susceptibility in all study subjects (odds ratio, OR = 1.182, 95%CI = 0.989-1.411, P = 0.066). After stratification by ethnicity, TNF-α -308A was not found to be associated with PTB in the European, Asian, or Middle East populations. No association was identified between PTB susceptibility and the TNF-α -238A allele in all study subjects (OR = 1.031, 95%CI = 0.741-1.436, P = 0.855), or in the European and Asian populations. However, TNF-α -857T was significantly associated with PTB susceptibility specifically in Asians (OR = 0.682, 95%CI = 0.550-0.846, P = 4.8 x 10(-5)). Meta-analysis using the dominant model, recessive model, or homozygote contrast showed the same pattern of results as for the TNF-α -857T allele. Overall, no correlation was noted between the TNF-α -308A/G and -238A/G polymorphisms and PTB susceptibility. However, the TNF-α -857T/C polymorphism was found to be associated with PTB susceptibility in the Asian population.
Assuntos
Tuberculose Pulmonar/genética , Fator de Necrose Tumoral alfa/genética , Povo Asiático/genética , Estudos de Casos e Controles , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Polimorfismo de Nucleotídeo Único , Tuberculose Pulmonar/etnologiaRESUMO
The aim of this study was to determine whether vitamin D receptor (VDR) genetic polymorphisms are associated with the susceptibility to pulmonary tuberculosis (PTB). MEDLINE and Embase databases and manual literature searches were used. A meta-analysis was conducted on the associations between the VDR FokI, TaqI, BsmI, and ApaI polymorphisms and PTB susceptibility. A total of 16 studies comprising 3231 patients and 3670 controls met the study inclusion criteria, consisting of 14 studies on the VDR FokI polymorphism, 13 on the VDR TaqI polymorphism, 8 on the VDR BsmI polymorphism, and 5 on the VDR ApaI polymorphism. Meta-analysis of the VDR FokI polymorphism showed no association between PTB and the f allele of the VDR FokI polymorphism (long variant) in all subjects (OR = 1.070, 95%CI = 0.979-1.169, P = 0.134). In contrast, after stratification by ethnicity, meta-analysis indicated that the VDR FokI F allele (short variant) was associated with PTB risk in an East Asian population (OR = 1.507, 95%CI = 1.192-1.906, P = 0.001). Meta-analysis revealed no association between PTB susceptibility and the VDR TaqI t allele in all study subjects (OR = 0.986, 95%CI = 0.839-1.159, P = 0.866) or in individual ethnic populations. Furthermore, a risk of PTB was not associated with the BsmI and ApaI polymorphisms. This meta-analysis suggested that the VDR FokI polymorphism is associated with a susceptibility to PTB in East Asians.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Receptores de Calcitriol/genética , Tuberculose Pulmonar/genética , Alelos , Povo Asiático/genética , Enzimas de Restrição do DNA/genética , Genótipo , Humanos , Polimorfismo Genético , Fatores de Risco , Tuberculose Pulmonar/patologiaRESUMO
The aims of this study were to identify candidate single-nucleotide polymorphisms (SNPs) and mechanisms of amyotrophic lateral sclerosis (ALS) and to generate SNP-to-gene-to-pathway hypotheses. An ALS genome-wide association study (GWAS) dataset that included 483,051 SNPs in 276 patients with ALS and 271 controls of European descent was used in this study. Identify Candidate Causal SNPs and Pathway (ICSNPathway) analysis was applied to the GWAS dataset. ICSNPathway analysis identified 19 candidate SNPs, 8 genes, and 9 pathways, which provided 8 hypothetical biological mechanisms. The strongest hypothetical biological mechanism was that rs9352 alters the role of chromatin assembly factor 1 subunit A in the context of the pathways of chromatin and nucleosome assembly (nominal P < 0.001, false discovery rate (FDR) ≤ 0.001, 0.018, respectively). The second strongest was rs1046329 â HILS1 â chromatin assembly (nominal P < 0.001, FDR = 0.018). The third was rs11100790 â SMARCA5 â chromatin and nucleosome assembly (nominal P < 0.001, FDR ≤ 0.001, 0.018, respectively). The application of ICSNPathway analysis to the ALS GWAS dataset resulted in the identification of candidate SNPs, pathways, and biological mechanisms that might contribute to ALS susceptibility.
Assuntos
Esclerose Lateral Amiotrófica/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Esclerose Lateral Amiotrófica/patologia , Feminino , Estudos de Associação Genética , Genoma Humano , Humanos , Masculino , Pessoa de Meia-Idade , Transdução de Sinais/genética , População BrancaRESUMO
We investigated whether Pro12Ala (CâG) and His447His (CâT) polymorphisms of the peroxisome proliferator-activated receptor gamma (PPARγ) gene are associated with susceptibility to Alzheimer's disease (AD). We conducted a meta-analysis of the associations between the PPARγ Pro12Ala and His447His polymorphisms and AD in subjects. The meta-analysis was performed according to the apolipoprotein E (APOE) É4 allele status. A total of eight studies were considered in our meta-analysis, comprising 2948 patients with AD and 3753 controls. Meta-analysis showed no association between AD and the PPARγ Pro12Ala G allele in any of the study subjects [odds ratio (OR) = 1.013, 95% confidence interval (95%CI) = 0.906-1.132, P = 0.821] or in the European and Asian populations (OR = 0.997, 95%CI = 0.890-1.118, P = 0.965; OR = 1.409, 95%CI = 0.832-2.387, P = 0.202, respectively). We tested whether the APOE É4 allele affects the association between the PPARγ Pro12Ala polymorphism and AD. Meta-analysis showed no association between AD and the PPARγ G allele in any of the study subjects with or without the APOE É4 allele. Meta-analysis showed no association between AD and the PPARγ His447His T allele in the European population (OR for T allele = 0.912, 95%CI = 0.732-1.136, P = 0.409). This meta-analysis has shown that there is a lack of association between the PPARγ Pro12Ala and His447His polymorphisms and AD risk.
Assuntos
Doença de Alzheimer/genética , Apolipoproteínas E/genética , Predisposição Genética para Doença , PPAR gama/genética , Polimorfismo de Nucleotídeo Único , Alelos , Doença de Alzheimer/etnologia , Doença de Alzheimer/patologia , Substituição de Aminoácidos , Povo Asiático , Estudos de Casos e Controles , Expressão Gênica , Frequência do Gene , Humanos , Razão de Chances , Risco , População BrancaRESUMO
The purpose of this study was to identify differentially expressed (DE) genes and biological processes associated with changes in gene expression in ankylosing spondylitis (AS). We performed a meta-analysis using the integrative meta-analysis of expression data program on publicly available microarray AS Gene Expression Omnibus (GEO) datasets. We performed Gene Ontology (GO) enrichment analyses and pathway analysis using the Kyoto Encyclopedia of Genes and Genomes. Four GEO datasets, including 31 patients with AS and 39 controls, were available for the meta-analysis. We identified 65 genes across the studies that were consistently DE in patients with AS vs controls (23 upregulated and 42 downregulated). The upregulated gene with the largest effect size (ES; -1.2628, P = 0.020951) was integral membrane protein 2A (ITM2A), which is expressed by CD4+ T cells and plays a role in activation of T cells. The downregulated gene with the largest ES (1.2299, P = 0.040075) was mitochondrial ribosomal protein S11 (MRPS11). The most significant GO enrichment was in the respiratory electron transport chain category (P = 1.67 x 10-9). Therefore, our meta-analysis identified genes that were consistently DE as well as biological pathways associated with gene expression changes in AS.
Assuntos
Complexo de Proteínas da Cadeia de Transporte de Elétrons/genética , Proteínas de Membrana/genética , Proteínas Mitocondriais/genética , Proteínas Ribossômicas/genética , Espondilite Anquilosante/genética , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD4-Positivos/metabolismo , Linfócitos T CD4-Positivos/patologia , Estudos de Casos e Controles , Complexo de Proteínas da Cadeia de Transporte de Elétrons/metabolismo , Perfilação da Expressão Gênica , Regulação da Expressão Gênica , Humanos , Ativação Linfocitária , Proteínas de Membrana/imunologia , Proteínas de Membrana/metabolismo , Proteínas Mitocondriais/metabolismo , Anotação de Sequência Molecular , Análise de Sequência com Séries de Oligonucleotídeos , Proteínas Ribossômicas/metabolismo , Espondilite Anquilosante/imunologia , Espondilite Anquilosante/metabolismo , Espondilite Anquilosante/patologiaRESUMO
We investigated whether the tumor necrosis factor-a (TNF-α) promoter -238 A/G and -308 A/G polymorphisms are associated with rheumatoid arthritis (RA) and vitiligo susceptibility. MEDLINE and EMBASE databases and a manual search were used to identify articles in which TNF-α polymorphisms were determined in RA or vitiligo patients and controls. Meta-analysis was used to examine the associations between the TNF-α -238 A/G polymorphism and RA and vitiligo using the allelic contrast and dominant models. Fifteen studies (10 RA and 5 vitiligo) involving 3678 cases and 4400 controls were considered. We observed an association between the TNF-α -238 A allele and RA when all subjects were considered [odds ratio (OR) = 0.686, 95% confidence interval (CI) = 0.476-0.968, P = 0.043]. After stratification by ethnicity, we found no association between the TNF-α -238 A allele and RA in European or Asian populations. We observed no association between the TNF-α -308 A allele and vitiligo (OR = 1.787, 95%CI = 0.894-3.573, P = 0.101). However, the adjusted OR by the trim-and-fill technique was significant (OR = 2.064, 95%CI = 1.138- 3.743). After stratification by geographic continent, the TNF-α -308 A allele was significantly associated with vitiligo in Middle Eastern populations (OR = 1.569, 95%CI = 1.224-2.013, P = 3.8 x 10(-5)). The TNF-α -238 A/G polymorphism was associated with RA susceptibility, and the TNF-α -308 A/G polymorphism may be a significant risk factor for vitiligo in Middle Eastern populations.
Assuntos
Artrite Reumatoide/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Fator de Necrose Tumoral alfa/genética , Vitiligo/genética , Alelos , Artrite Reumatoide/patologia , Povo Asiático/genética , Humanos , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Fatores de Risco , Vitiligo/patologia , População Branca/genéticaRESUMO
The purpose of this study was to examine whether tu-mor necrosis factor-α (TNF-α) -308 A/G and -238 A/G polymorphisms confer susceptibility to glaucoma. A meta-analysis was conducted ex-amining the association between TNF-α -308 A/G and -238 A/G poly-morphisms and glaucoma. A total of 13 studies on TNF-α -308 A/G and 238 A/G polymorphisms were included in this meta-analysis. The meta-analysis revealed no association between the TNF-α -308 A al-lele and glaucoma [odds ratio (OR) = 1.403, 95% confidence inter-val (CI) = 0.784-2.513, P = 0.254]. Subgroup analysis by disease type revealed no association between the TNF-α -308 A allele and glau-coma. The meta-analysis revealed no significant association between the TNF-α -238 A allele and glaucoma (OR = 1.120, 95%CI = 0.708-1.773, P = 0.628). This meta-analysis showed no association between the A alleles of the TNF-α -308 A/G or -238 A/G polymorphisms and glaucoma.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Glaucoma/genética , Fator de Necrose Tumoral alfa/genética , Alelos , Glaucoma/patologia , Humanos , Polimorfismo de Nucleotídeo Único , Regiões Promotoras GenéticasRESUMO
The purpose of this study was to examine whether the insertion (I) or deletion (D) polymorphism of the angiotensin-converting enzyme gene (ACE) is associated with susceptibility to systemic sclerosis (SSc). A meta-analysis examining the associations between the ACE I/D polymorphism and SSc was conducted in overall and European populations using 1) allelic contrast (D vs I); 2) recessive (DD vs ID + II); 3) dominant (DD + ID vs II); and 4) additive (DD vs ID vs II) models. A total of 7 studies consisting of 837 cases and 754 controls were available for meta-analysis. The meta-analysis revealed no association between the D allele and SSc in any study subjects [odds ratio (OR) = 0.956, 95% confidence interval (CI) = 0.733-1.246, P = 0.737]. Stratification by ethnicity indicated no association between the D allele of the ACE I/D polymorphism and SSc in Europeans (OR = 1.117, 95%CI = 0.776-1.607, P = 0.551). Meta-analysis using all other genetic models showed the same D allele pattern in the overall and European groups. This meta-analysis showed that the ACE I/D polymorphism was not associated with susceptibility to SSc in the study subjects and in Europeans.
Assuntos
Predisposição Genética para Doença , Mutação INDEL , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Escleroderma Sistêmico/genética , Alelos , Frequência do Gene , Humanos , Razão de Chances , Grupos Raciais/genéticaRESUMO
This study analyzed 394 Korean rice landrace accessions, including 93 waxy varieties, for polymorphisms using 29 simple sequence repeat (SSR) markers. In total, 381 alleles served as raw data for estimating the genetic diversity (GD) and population structure. The number of alleles per locus ranged from 3 to 44 (average = 13.14). The expected heterozygosity and polymorphism information content (PIC) ranged from 0.0341 to 0.9358 (mean = 0.5623) and from 0.0783 to 0.9367 (mean = 0.5839), respectively. The mean GDs in waxy, low amylose content, intermediate amylose content, and high amylose content (HAC) varieties were 0.6014, 0.5922, 0.5858, and 0.7232, respectively, whereas the mean PIC values for each SSR locus were 0.5701, 0.5594, 0.5550, and 0.6926, respectively. HAC varieties had the highest GD and PIC. Consistent with clustering by genetic distances, a model-based structural analysis revealed 3 subpopulations. Analysis of molecular variance revealed that the between-population component of genetic variance was 22.35%, and that of the within-population component was 77.65%. Significant correlations were observed between eating quality and protein content (r = -0.262), K(+) (r = -0.655), Mg(2+) (r = -0.680), 1000-GW (r = 0.159), and amylose content (r = -0.134). The overall FST value was 0.2235, indicating moderate differentiation among the groups. Analysis of variance of the 3 genetic groups (mean of 9 phenotypic and 5 physicochemical traits) by the Duncan multiple range test showed significant differences in 10 traits. This preliminary study represents a first step toward more efficient conservation and greater utilization of rice landraces to broaden the genetic bases of commercially grown varieties.
Assuntos
Oryza/genética , Polimorfismo Genético , Locos de Características Quantitativas , Característica Quantitativa Herdável , Alelos , Amilose/metabolismo , Frequência do Gene , Genótipo , Repetições de Microssatélites , Família Multigênica , Oryza/classificação , Oryza/metabolismo , Fenótipo , Proteínas de Plantas/metabolismo , República da CoreiaRESUMO
The aim of this study was to evaluate the effects of muscle fatigue of triceps surae and quadriceps muscles in stepping down in ongoing gait. We expected that the subjects would compensate for muscle fatigue to prevent potential loss of balance in stepping down. A total of 10 young participants walked over a walkway at a self-selected velocity to step down a height difference of 10-cm halfway. Five trials were performed before and after a muscle fatigue protocol. Participants performed two fatigue protocols: one for ankle muscle fatigue and another for knee muscle fatigue. Kinematics of and ground reaction forces on the leading leg were recorded. Fatigue did not cause a change in the frequency of heel or toe landing. Our results indicate that in stepping down fatigue effects are compensated by redistributing work to unfatigued muscle groups and by gait changes aimed at enhancing balance control, which was however only partially successful.
Assuntos
Marcha/fisiologia , Fadiga Muscular/fisiologia , Músculo Quadríceps/fisiopatologia , Adulto , Fenômenos Biomecânicos/fisiologia , Feminino , Humanos , Masculino , Equilíbrio Postural/fisiologia , Caminhada/fisiologia , Adulto JovemRESUMO
The Korean mussel Mytilus coruscus, an endemic marine bivalve mollusk, is economically important. Its population is currently decreasing due to overexploitation and invasion of a more competitive species, Mytilus galloprovincialis. In this study, microsatellite markers for M. coruscus were developed using a cost-effective pyrosequencing technique. Among the 33,859 dinucleotide microsatellite sequences identified, 176 loci that contained more than 8 CA, CT, or AT repeats were selected for primer synthesis. Sixty-four (36.4%) primer sets were produced from the 100- to 200-bp polymerase chain reaction products obtained from 2 M. coruscus individuals. Twenty of these were chosen to amplify DNA from 82 M. coruscus individuals, and 18 polymorphic loci and 2 monomorphic loci were selected as microsatellite markers. The number of alleles and the allele richness of the polymorphic loci ranged from 2 to 22 and from 2.0 to 19.7 with means of 10.8 and 10.1, respectively. Null alleles were detected for all but three loci, which resulted in an observed heterozygosity lower than the expected heterozygosity and therefore an excess of homozygotes. In a cross-species transfer analysis of these markers using 7 Mytilidae species, the locus Mc65 was amplified from all species tested and was found to be polymorphic in all of them. Among the species, M. galloprovincialis, Lithophaga curta, and Hormomya mutabilis showed the same transferability of 25%, but the five amplified loci were polymorphic only in M. galloprovincialis and H. mutabilis. These microsatellite markers may be useful for future resource management and artificial production of juveniles for aquaculture.
Assuntos
Marcadores Genéticos , Repetições de Microssatélites , Mytilus/genética , Alelos , Animais , DNA/genética , Primers do DNA/genética , Loci Gênicos , Genótipo , Mytilus/classificação , Reação em Cadeia da Polimerase , Polimorfismo Genético , República da Coreia , Análise de Sequência de DNA , Especificidade da EspécieRESUMO
We investigated whether Toll-like receptor (TLR) polymorphisms confer susceptibility to rheumatoid arthritis and whether they influence clinical characteristics of rheumatoid arthritis. Studies were considered relevant for our meta-analysis if at least two comparisons of an issue were available. Eleven studies with 2078 patients with rheumatoid arthritis and 2581 controls were included, encompassing European and Asian studies. Meta-analysis of three European studies showed no significant association between the TLR4 Asp299Gly (rs4986790) polymorphism and rheumatoid arthritis (odds ratio = 0.897, 95% confidence interval = 0.734-1.096, P = 0.289). One Turkish study showed a significant difference between TLR9 rs187084 allele frequencies and rheumatoid arthritis patients and controls, while another study revealed a significant association between rheumatoid factor and TLR8 rs5741883. A Korean study on the numbers of guanine-thymine [(GT)(n)] repeats in intron II of the TLR2 gene found a significantly higher S-allele frequency in rheumatoid arthritis patients than in controls (30.3 vs 23.0%). Overall findings for the meta-analysis including all the studies conclude that TLR polymorphism is associated with development and clinical characteristics of rheumatoid arthritis in Asian and Middle East populations.
Assuntos
Artrite Reumatoide/genética , Receptores Toll-Like/genética , Estudos de Casos e Controles , Etnicidade/genética , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Íntrons , Masculino , Polimorfismo GenéticoRESUMO
BACKGROUND The purpose of this study was to evaluate telomerase activity in peripheral whole blood from head and neck squamous cell carcinoma (HNSCC) patients as a biomarker for diagnosis of HNSCC or detection of recurrence during follow-up. MATERIALS AND METHODS Telomerase activity was measured from peripheral whole blood extracts by telomerase repeat amplification protocol (TRAP) in HNSCC patients before and after surgery and in a control group. Sixty-two HNSCC patients and 42 control subjects were included. RESULTS Telomerase activity was found in 41 out of 62 (66.1%) HNSCC patients before surgery and in 8 out of 42 (19.0%) controls (p<0.001). Among 41 HNSCC patients who showed positive telomerase activity before surgery, 32 (78.1%) showed a conversion of telomerase activity to negative after surgery. In follow-up, 6 out of 8 (75%) showed conversion of telomerase activity from negative to positive after recurrence. Telomerase activity was changed to negative in 4 out of 6 (66%) recurred patients with positive telomerase activity after second surgery. CONCLUSION The telomerase activity in peripheral whole blood extracts of HNSCC patients might be a useful biomarker for detecting recurrence after treatment. Further study with larger sample size using a more sensitive detection method of telomerase activity is necessary to verify these results.