RESUMO
The objective of this study was to investigate the association of single nucleotide polymorphisms (SNPs) with birth weight, weight gain from birth to weaning and from weaning to yearling, yearling height and cow weight in Nelore cattle. Data from 5064 animals participating in the DeltaGen and PAINT breeding programs were used. The animals were genotyped with a panel of 777 962 SNPs (Illumina BovineHD BeadChip) and 412 993 SNPs remained after quality control analysis of the genomic data. A genome-wide association study was performed using a single-step methodology. The analyses were processed with the BLUPF90 family of programs. When applied to a genome-wide association studies, the single-step GBLUP methodology is an iterative process that estimates weights for the SNPs. The weights of SNPs were included in all analyses by iteratively applying the single-step GBLUP methodology and repeated twice so that the effect of the SNP and the effect of the animal were recalculated in order to increase the weight of SNPs with large effects and to reduce the weight of those with small effects. The genome-wide association results are reported based on the proportion of variance explained by windows of 50 adjacent SNPs. Considering the two iterations, only windows with an additive genetic variance >1.5% were presented in the results. Associations were observed with birth weight on BTA 14, with weight gain from birth to weaning on BTA 5 and 29, with weight gain from weaning to yearling on BTA 11, and with yearling height on BTA 8, showing the genes TMEM68 (transmembrane protein 8B) associated with birth weight and yearling height, XKR4 (XK, Kell blood group complex subunit-related family, member 4) associated with birth weight, NPR2 (natriuretic peptide receptor B) associated with yearling height, and REG3G (regenerating islet-derived 3-gamma) associated with weight gain from weaning to yearling. These genes play an important role in feed intake, weight gain and the regulation of skeletal growth.
Assuntos
Cruzamento , Bovinos , Estudo de Associação Genômica Ampla , Animais , Peso Corporal , Bovinos/genética , Bovinos/crescimento & desenvolvimento , Feminino , Fenótipo , Polimorfismo de Nucleotídeo Único , Desmame , Aumento de PesoRESUMO
The aim of this case-control study was to obtain a comprehensive panel of genetic polymorphisms present only in genes (cytochrome P-450 1A1--CYP1A1 and catechol-O-methyl transferase--COMT) within the metabolic pathway of sex steroids and determine their possible associations with the presence or absence of cervical cancer. Genotypes of 222 women were analyzed: a) 81 with cancer of the cervix treated at the Cancer Hospital Alfredo Abram, between June 2012 and May 2013, with diagnosis confirmed surgically and/or through histomorphological examination; and b) 141 healthy women who assisted at the Endocrine Gynecology and Climacteric Ambulatory, Department of Gynecology, UNIFESP-EPM. These polymorphisms were detected by polymerase chain reaction amplification-restriction fragment length polymorphism analysis and visualized on 3% agarose gels stained with ethidium bromide. We found a significant association between the frequency of the CYP1A1 polymorphism and the development of cervical cancer. A statistical difference was observed between patient and control groups for CYP1A1 polymorphism genotype distributions (P < 0.05). However, no significant differences were found in the COMT gene polymorphism genotype distributions between the patient and control groups (P > 0.05) or between other risk variables analyzed. The CYP1A1 gene involved in the metabolic pathway of sex steroids might influence the emergence of pathological conditions such as cervical cancer in women who carry a mutated allele, and result in 1.80 and 13.46 times increased risk for women with heterozygous or homozygous mutated genotypes, respectively.
Assuntos
Catecol O-Metiltransferase/genética , Citocromo P-450 CYP1A1/genética , Neoplasias do Colo do Útero/genética , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , HumanosRESUMO
The rotifer Brachionus sp. is commonly used for larval feeding in marine fish hatcheries. The aim of this study was to evaluate whether the inclusion of Acartia tonsa nauplii in the initial diet of carapeva larvae improves their survival, growth and resistance to stress when compared to the regimen containing only rotifers. Adult copepods were collected in the wild and cultured with the microalgae Chaetoceros muelleri, Isochrysis galbana and Nannochloropsis oculata to obtain nauplii. Carapeva larvae were grown for 15 days using four treatments and three replicates: 1) Brachionus plicatilis rotifers (10 to 15/mL); 2) A. tonsa nauplii (0.25 to 0.5/mL); 3) Brachionus plicatilis rotifers (5 to 7.5/mL) + A. tonsa nauplii (0.12 to 0.25/mL), and 4) no supply of live feed. After 15 days, the carapeva larvae were subjected to stress by exposure to air for 10 seconds and then returned to the source tank to evaluate survival after 24 h. Survival and stress resistance were higher in carapeva larvae fed B. plicatilis + A. tonsa nauplii (P<0.05), 20.9 ± 11.2% and 88.9%, respectively. These results confirm the positive effect of the inclusion of copepod nauplii in the diet of fish larvae. However, more research is needed to validate these results...(AU)
O rotífero Brachionus sp. é o alimento vivo mais comumente utilizado na larvicultura de peixes marinhos. O objetivo deste estudo foi avaliar se a inclusão de náuplios de Acartia tonsa na alimentação inicial de larvas de carapeva melhora sua sobrevivência, crescimento e resistência ao estresse, comparado com o regime contendo apenas rotíferos. Copépodos adultos foram coletados no ambiente e cultivados com as microalgas Chaetoceros muelleri, Isochrysis galbana and Nannochloropsis oculata para obtenção dos náuplios. As larvas de carapeva foram cultivadas por 15 dias com quatro tratamentos e três repetições: 1) rotíferos Brachionus plicatilis (10 a 15/mL); 2) náuplios de A. tonsa (0,25 a 0,5/mL); 3) rotíferos Brachionus plicatilis (5 a 7,5/ mL) + náuplios de A. tonsa (0,12 a 0,25/mL) e 4) sem suplementação de alimento vivo. Após 15 dias, as larvas de carapeva foram submetidas a estresse por exposição ao ar, por 10 segundos e retornadas aos tanques para avaliar a sobrevivência após 24 h. As larvas alimentadas com rotífero B. plicatilis + náuplio de A. tonsa apresentaram maiores sobrevivência e resistência ao estresse (P<0,05), 20,9 ± 11,2% e 88,9%, respectivamente. Esses resultados confirmam o efeito positivo da inclusão de náuplios de copépodos na dieta de larvas de peixes. Contudo, são necessárias mais pesquisas para validar esses resultados...(AU)
Assuntos
Animais , Peixes/crescimento & desenvolvimento , Ração Animal , Microalgas , Rotíferos , Alimentos Marinhos , Indústria PesqueiraRESUMO
The rotifer Brachionus sp. is commonly used for larval feeding in marine fish hatcheries. The aim of this study was to evaluate whether the inclusion of Acartia tonsa nauplii in the initial diet of carapeva larvae improves their survival, growth and resistance to stress when compared to the regimen containing only rotifers. Adult copepods were collected in the wild and cultured with the microalgae Chaetoceros muelleri, Isochrysis galbana and Nannochloropsis oculata to obtain nauplii. Carapeva larvae were grown for 15 days using four treatments and three replicates: 1) Brachionus plicatilis rotifers (10 to 15/mL); 2) A. tonsa nauplii (0.25 to 0.5/mL); 3) Brachionus plicatilis rotifers (5 to 7.5/mL) + A. tonsa nauplii (0.12 to 0.25/mL), and 4) no supply of live feed. After 15 days, the carapeva larvae were subjected to stress by exposure to air for 10 seconds and then returned to the source tank to evaluate survival after 24 h. Survival and stress resistance were higher in carapeva larvae fed B. plicatilis + A. tonsa nauplii (P<0.05), 20.9 ± 11.2% and 88.9%, respectively. These results confirm the positive effect of the inclusion of copepod nauplii in the diet of fish larvae. However, more research is needed to validate these results...
O rotífero Brachionus sp. é o alimento vivo mais comumente utilizado na larvicultura de peixes marinhos. O objetivo deste estudo foi avaliar se a inclusão de náuplios de Acartia tonsa na alimentação inicial de larvas de carapeva melhora sua sobrevivência, crescimento e resistência ao estresse, comparado com o regime contendo apenas rotíferos. Copépodos adultos foram coletados no ambiente e cultivados com as microalgas Chaetoceros muelleri, Isochrysis galbana and Nannochloropsis oculata para obtenção dos náuplios. As larvas de carapeva foram cultivadas por 15 dias com quatro tratamentos e três repetições: 1) rotíferos Brachionus plicatilis (10 a 15/mL); 2) náuplios de A. tonsa (0,25 a 0,5/mL); 3) rotíferos Brachionus plicatilis (5 a 7,5/ mL) + náuplios de A. tonsa (0,12 a 0,25/mL) e 4) sem suplementação de alimento vivo. Após 15 dias, as larvas de carapeva foram submetidas a estresse por exposição ao ar, por 10 segundos e retornadas aos tanques para avaliar a sobrevivência após 24 h. As larvas alimentadas com rotífero B. plicatilis + náuplio de A. tonsa apresentaram maiores sobrevivência e resistência ao estresse (P<0,05), 20,9 ± 11,2% e 88,9%, respectivamente. Esses resultados confirmam o efeito positivo da inclusão de náuplios de copépodos na dieta de larvas de peixes. Contudo, são necessárias mais pesquisas para validar esses resultados...
Assuntos
Animais , Alimentos Marinhos , Microalgas , Peixes/crescimento & desenvolvimento , Ração Animal , Rotíferos , Indústria PesqueiraRESUMO
We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53 11 Glu/Gln or Lys (GAG->CAG or AAG), TP53 72 Arg/Pro (CCG->CCC), and TP53 248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method. TP53 11 presented the following genotypic distribution: the control group was 98.28% homozygous wild-type (Glu) and 1.72% homozygous variant (Gln/Lys), and the heterozygous genotype was not identified. The genotypic distribution in the endometriosis group was 96% homozygous wild-type (Glu) and 4% heterozygous (Glu-Gln/Lys); the homozygous variant genotype was not identified (P = 0.02). TP53 72 showed the following genotypic distribution: the control group was 29.75% homozygous wild-type (Arg), 47.11% heterozygous (Arg-Pro), and 23.14% homozygous variant (Pro). The genotypic distribution in the endometriosis group was 16.15% homozygous wild-type (Arg), 51.54% heterozygous (Arg-Pro), and 32.31% homozygous variant (Pro) (odds ratio = 2.26; 95% confidence interval = 1.19-4.03; P = 0.02). Only one patient had the homozygous TP53 248 genotype (Arg-Trp/Gln); all other patients were homozygous wild-type in both the control and endometriosis groups (P = 0.51; NS). We found that TP53 72 polymorphism may be associated with susceptibility to endometriosis; the presence of at least 1 polymorphic allele increased the chance of disease development by 2.26-fold. Hence, this genetic variant is a potential candidate marker for endometriosis.
Assuntos
Códon/genética , Endometriose/genética , Predisposição Genética para Doença/genética , Polimorfismo Genético , Proteína Supressora de Tumor p53/genética , Adulto , Idoso , Alelos , Brasil , Análise Mutacional de DNA , Feminino , Frequência do Gene , Genótipo , Humanos , Desequilíbrio de Ligação , Pessoa de Meia-Idade , Reação em Cadeia da PolimeraseRESUMO
Studies have shown that estrogen replacement therapy and estrogen plus progestin replacement therapy alter serum levels of total, LDL and HDL cholesterol levels. However, HDL cholesterol levels in women vary considerably in response to hormone replacement therapy (HRT). A significant portion of the variability of these levels has been attributed to genetic factors. Therefore, we investigated the influence of estrogen receptor-alpha (ESR1) gene polymorphisms on HDL levels in response to postmenopausal HRT. We performed a prospective cohort study on 54 postmenopausal women who had not used HRT before the study and had no significant general medical illness. HRT consisted of conjugated equine estrogen and medroxyprogesterone acetate continuously for 1 year. The lipoprotein levels were measured from blood samples taken before the start of therapy and after 1 year of HRT. ESR1 polymorphism (MspI C>T, HaeIII C>T, PvuII C>T, and XbaI A>G) frequencies were assayed by restriction fragment length polymorphism. A general linear model was used to describe the relationships between HDL levels and genotypes after adjusting for age. A significant increase in HDL levels was observed after HRT (P = 0.029). Women with the ESR1 PvuII TT genotype showed a statistically significant increase in HDL levels after HRT (P = 0.032). No association was found between other ESR1 polymorphisms and HDL levels. According to our results, the ESR1 PvuII TT genotype was associated with increased levels of HDL after 1 year of HRT.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , HDL-Colesterol/sangue , Terapia de Reposição de Estrogênios , Receptor alfa de Estrogênio/genética , Estrogênios Conjugados (USP)/uso terapêutico , Acetato de Medroxiprogesterona/uso terapêutico , Polimorfismo Genético/genética , Estudos de Coortes , HDL-Colesterol/genética , Genótipo , Polimorfismo de Fragmento de Restrição , Estudos ProspectivosRESUMO
Studies have shown that estrogen replacement therapy and estrogen plus progestin replacement therapy alter serum levels of total, LDL and HDL cholesterol levels. However, HDL cholesterol levels in women vary considerably in response to hormone replacement therapy (HRT). A significant portion of the variability of these levels has been attributed to genetic factors. Therefore, we investigated the influence of estrogen receptor-alpha (ESR1) gene polymorphisms on HDL levels in response to postmenopausal HRT. We performed a prospective cohort study on 54 postmenopausal women who had not used HRT before the study and had no significant general medical illness. HRT consisted of conjugated equine estrogen and medroxyprogesterone acetate continuously for 1 year. The lipoprotein levels were measured from blood samples taken before the start of therapy and after 1 year of HRT. ESR1 polymorphism (MspI C>T, HaeIII C>T, PvuII C>T, and XbaI A>G) frequencies were assayed by restriction fragment length polymorphism. A general linear model was used to describe the relationships between HDL levels and genotypes after adjusting for age. A significant increase in HDL levels was observed after HRT (P = 0.029). Women with the ESR1 PvuII TT genotype showed a statistically significant increase in HDL levels after HRT (P = 0.032). No association was found between other ESR1 polymorphisms and HDL levels. According to our results, the ESR1 PvuII TT genotype was associated with increased levels of HDL after 1 year of HRT.
Assuntos
HDL-Colesterol/sangue , Receptor alfa de Estrogênio/genética , Terapia de Reposição de Estrogênios , Estrogênios Conjugados (USP)/uso terapêutico , Acetato de Medroxiprogesterona/uso terapêutico , Polimorfismo Genético/genética , HDL-Colesterol/genética , Estudos de Coortes , Feminino , Genótipo , Humanos , Pessoa de Meia-Idade , Polimorfismo de Fragmento de Restrição , Estudos ProspectivosRESUMO
Os AINEs são drogas amplamente utilizadas para o alívio da dor de origem musculoesquelética e em procedimentos cirúrgicos, principalmente ortopédicos,, no pré, trans e pós-operatório. Os efeitos colaterais dos AINEs resultam de sua ação inibitória sobre a cicloxigenase, destacando sua atuação sobre o aparelho digestório, tornando o exame gastroscópico de grande valia para uma avaliação intraluminal direta. Foram utilizados seis cães, sendo um mantido como controle, sem raça definida, três machos e três fêmeas e idades variadas onde se dividiu o experimento em três módulos: Módulo 1: flunixim meglumine na dosagem de 1,0 mg/kg a cada 24 horas por 5 dias; Módulo 2: piroxican na dosagem de 0,3 mg/kg a cada 48 horas, perfazendo um total de 3 aplicações; e, Módulo 3: cetoprofeno na dosagem de 1,0 mg/kg com intervalo de 24 horas durante 5 dias. Os pacientes foram submetidos a exame endoscópico no 1º, 4º, 6º, 8º, 10º dia. Nas três drogas testadas foram observadas lesões gástricas que variaram de gastrite leve até ulceração, sendo o piroxican o que demonstrou maior potencial ulcerogênico. Clinicamente não foi observada qualquer alteração. O exame endoscópico se mostrou eficaz, preciso e com grande acuidade para o diagnóstico das alterações gástricas provocadas pelas drogas testadas.
Assuntos
Animais , Anti-Inflamatórios não Esteroides , Cães , Fenômenos Fisiológicos do Sistema Digestório , Gastroscopia/métodosRESUMO
A decrease in ribosomal gene activity is an essential feature of the aging process as it was observed in Alzheimer's disease, in elderly Down's patients and in elderly healthy people. It is well known that aging is also associated with a reduction in melatonin synthesis. We studied 24 male Wistar rats cytogenetically, by using Ag-stained NOR (6 three-month-old rats underwent pinealectomy and were studied after 20 days; 6 control rats of the same age; 6 three-month-old rats underwent pinealectomy and were studied after 8 months; 6 control rats of the same age). Our results indicate that the absence of the pineal gland leads to a decrease in NOR activity. Further studies are necessary to determine if pinealectomy in rats could provide an animal model for aging.
Assuntos
Envelhecimento/genética , Região Organizadora do Nucléolo/fisiologia , Glândula Pineal/fisiologia , Ribossomos , Envelhecimento/metabolismo , Envelhecimento/fisiologia , Animais , Masculino , Melatonina/metabolismo , Glândula Pineal/cirurgia , Ratos , Ratos WistarRESUMO
DNA methylation is an epigenetic mechanism controlling of gene expression. We studied the effect of a demethylation agent 5-azacytidine, on ribosomal gene activity observed by Nucleolus Staining Giemsa in the chromosomes of eight Alzheimer's disease patients, eight elderly healthy individuals and eight young healthy controls. Metaphase cells were obtained from lymphocyte cultures. All the acrocentric chromosome pairs were analyzed using G banding followed by Nucleolus Staining Giemsa banding in the same cell. The Alzheimer's disease patients and elderly healthy control did not show a variation in the transcriptional activity of ribosomal genes with or without 5-azacytidine treatment, whereas the young control group showed an increase in this activity with the treatment.