Accuracy of genotype imputation in Nelore cattle

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Water buffalo genome characterization by the Illumina BovineHD BeadChip

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Influência do SNP T3801C CYP1A1 sobre os níveis de danos oxidativos no DNA de células da mucosa gástrica de pacientes infectados pelo H. Pylori

Helicobacter pylori (H. pylori) is a common gastric pathogen that has infected more than 50% of the population of the world and it has been associated with chronic gastritis, gastric ulcers, duodenal ulcer, and gastric cancer. Although, almost all infected people develop gastritis, there is a variety of clinical outcomes, and only a minority (<1%) of infected individuals develop gastric cancer. There are evidences which suggest that the chronic inflammatory reaction caused by the bacterial infection may be involved in the production of reactive oxygen species or reactive nitrogen species. It may lead to DNA damage, which together with the cellular response could lead to gene mutations, chromosomal aberrations characterizing genomic instability that may represent the early step in gastric carcinogenesis. The extent and severity of gastric mucosal inflammation, as well as the clinical outcome of the infection, depend on a number of factors, including the host genetic susceptibility such SNP T3801 CYP1A1, immune response, age at which the infection was acquired, environmental factors, especially dietary and bacterial virulence factors. Due to the risk of developing gastric cancer in humans infected by H. pylori, we used the Comet Assay to investigate the influence of the SNP T3801C CYP1A1 on levels of oxidative DNA damage in gastric epithelial cells. The study was conducted with biopsies from the gastric antrum and corpus of 103 H. pylori-infected patients and 24 uninfected control patients. Genotype of SNP T3801C CYP1A1 was determined by PCR-RFLP and DNA damage levels were measured in gastric mucosal cells from antrum and corpus by the Comet assay. Levels of DNA damage in gastric mucosa cells from antrum and corpus of H. pylori-infected patients with mild, moderate, severe gastritis, and gastric cancer were significantly higher compared to uninfected normal mucosa cells. However, levels... (Complete abstract click electronic access below)

Angiotensin converting enzyme polymorphism in type 2 diabetes mellitus

This study was undertaken to assess the frequency of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism in patients with type 2 diabetes mellitus. A total of 162 patients with type 2 diabetes and 160 individuals without this disease were analyzed. From the diabetes group, 81 patients with cardiovascular risk (according to American Diabetes Association parameters) were selected to form another subgroup. For polymorphism identification, two polymerase chain reactions were performed: one reaction to identify all genotypes and a second one to confirm the presence of the I allele. The observed genotype frequencies were as follows: diabetes group I/I (19.1%), I/D (52.5%), D/D (28.4%); control group I/I (12.5%), I/D (55.6%), D/D (31.9%); and diabetes with cardiovascular risk group I/I (16.0%), I/ D (59.3%), D/D (24.7%). No statistically significant difference was observed between the allelic and genotypic frequencies in the analyzed groups. Previous studies reported an association between the D allele and type 2 diabetes in Caucasian and East Asian populations. However, in mixed populations, such as those found in Brazil, such an association was not found. This fact does not discard the need for more studies on the frequencies of this polymorphism in the Brazilian population and the associations with risk factors, which can compromise the quality of life of diabetes patients

Avaliação da autozigosidade em vacas Nelore (Bos indicus) através de genótipos SNP de alta densidade

Pós-graduação em Medicina Veterinária - FCAV

Parâmetros genéticos para integridade óssea do fêmur e estudo da associação dos genes runx2 e tnfs11 em frangos de corte

Pós-graduação em Genética e Melhoramento Animal - FCAV

IRS-1 gene polymorphism and DNA damage in pregnant women with diabetes or mild gestational hyperglycemia

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

NLRP1 L155H polymorphism is a risk factor for preeclampsia development

Problem: Augmented levels of IL-1 ss have been pointed out as an important pathogenic factor for preeclampsia development. Inflammasome is the cytoplasmic complex responsible for pro-IL1 ss cleavage and IL-1 ss secretion. Aim of the study was to evaluate the association between polymorphisms in inflammasome'genes and preeclampsia. Method of study: Selected polymorphisms in inflammasome genes (NLRP1, NLRP3, CARD8, and IL1B) were analyzed in 286 Brazilian women with and 309 without preeclampsia. Results and Conlclusions: The NLRP1 variant rs12150220 (L155H) was associated with the development of preeclampsia (OR=1.58), suggesting a role of this inflammasome receptor in the pathogenesis of this multifactorial disorder.

Polymorphisms in TOX and NCOA2 genes and their associations with reproductive traits in cattle

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

The presence of the NOS3 gene polymorphism for intron 4 mitigates the beneficial effects of exercise training on ambulatory blood pressure monitoring in adults

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Human Platelet Polymorphism can be a genetic marker associated with HIV/HCV coinfection

To evaluate the associations of HPA polymorphisms -1, -3, and -5 with HIV/HCV coinfection were included in this study 60 HIV/HCV-coinfected patients from the Sao Paulo State health service centers. Data reported by Verdichio-Moraes et al. (2009: J. Med Virol 81:757-759) were used as the non-infected and HCV monoinfected groups. Human Platelet Polymorphism genotyping was performed in 60 Patients co-infected with HIV/HCV by PCR-SSP or PCR-RFLP. HIV subtyping and HCV genotyping was performed by RT-PCR followed sequencing. The data analyses were performed using the χ2 test or Fisher's Exact Test and the logistic regression model. Patients coinfected with HIV/HCV presented HCV either genotype 1 (78.3%) or non-1 (21.7%) and HIV either subtype B (85.0%) or non-B (15%). The Human Platelet Polymorphism-1a/1b genotype was more frequent (P < 0.05) in HIV/HCV coinfection than in HCV monoinfection and the allelic frequency of Human Platelet Polymorphism-5b in the Patients coinfected with HIV/HCV was higher (P < 0.05) than in HCV monoinfected cases and non-infected individuals. These data suggest that the presence of specific HPA allele on platelets could favor the existence of coinfection. On the other hand, Human Platelet Polymorphism-5a/5b was more frequent (P < 0.05) in HIV/HCV coinfected and HCV monoinfected groups than in the non-infected individuals, suggesting that this platelet genotype is related to HCV infection, regardless of HIV presence. Results suggest that the Human Platelet Polymorphism profile in HIV/HCV coinfected individuals differs from the one of both HCV monoinfected and non-infected population. So, the Human Platelet Polymorphism can be a genetic marker associated with HIV/HCV coinfection.

Genome-wide scan for visceral leishmaniasis in mixed-breed dogs identifies candidate genes involved in T helper cells and macrophage signaling

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Assessment of autozygosity in Nellore cows (Bos indicus) through high-density SNP genotypes

The use of relatively low numbers of sires in cattle breeding programs, particularly on those for carcass and weight traits in Nellore beef cattle (Bos indicus) in Brazil, has always raised concerns about inbreeding, which affects conservation of genetic resources and sustainability of this breed. Here, we investigated the distribution of autozygosity levels based on runs of homozygosity (ROH) in a sample of 1,278 Nellore cows, genotyped for over 777,000 SNPs. We found ROH segments larger than 10 Mb in over 70% of the samples, representing signatures most likely related to the recent massive use of few sires. However, the average genome coverage by ROH (>1 Mb) was lower than previously reported for other cattle breeds (4.58%). In spite of 99.98% of the SNPs being included within a ROH in at least one individual, only 19.37% of the markers were encompassed by common ROH, suggesting that the ongoing selection for weight, carcass and reproductive traits in this population is too recent to have produced selection signatures in the form of ROH. Three short-range highly prevalent ROH autosomal hotspots (occurring in over 50% of the samples) were observed, indicating candidate regions most likely under selection since before the foundation of Brazilian Nellore cattle. The putative signatures of selection on chromosomes 4, 7, and 12 may be involved in resistance to infectious diseases and fertility, and should be subject of future investigation.