Genetic associations between scrotal circumference and female reproductive traits in Nelore cattle

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

Study of lipid metabolism-related genes as candidate genes of sexual precocity in Nellore cattle

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

Genetic associations between temperament and performance traits in Nellore beef cattle

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

Associations of vitamin D deficiency with postoperative gait and mortality among patients with fractures of the proximal femur

To assess whether serum vitamin D concentration is associated with gait status and mortality among patients with fractures of the proximal femur, six months after suffering the fracture. Consecutive patients aged ≥65 years with fractures of the proximal femur, who were admitted to the orthopedics and traumatology ward of our service between January and December 2011, were prospectively evaluated. Clinical, radiological, epidemiological and laboratory analyses were performed, including vitamin D. The patients underwent surgery and were followed up as outpatients, with return visits 15, 30, 60 and 180 days after discharge, at which the outcomes of gait and mortality were evaluated. Eighty-eight patients were evaluated. Two of them were excluded because they presented oncological fractures. Thus, 86 patients of mean age 80.2 ± 7.3 years were studied. In relation to serum vitamin D, the mean was 27.8 ± 14.5 ng/mL, and 33.7% of the patients presented deficiency of this vitamin. In relation to gait, univariate and multivariate logistic regression showed that vitamin D deficiency was not associated with gait recovery, even after adjustment for gender, age and type of fracture (OR: 1.463; 95% CI: 0.524-4.088; p = 0.469). Regarding mortality, Cox regression analysis showed that vitamin D deficiency was not related to its occurrence within six months, even in multivariate analysis (HR: 0.627; 95% CI: 0.180-2.191; p = 0.465). Serum vitamin D concentration was not related to gait status and/or mortality among patients with fractures of the proximal femur, six months after suffering the fracture.

Association of apolipoprotein B and adiponectin receptor 1 genes with carcass, bone integrity and performance traits in a paternal broiler line

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

A genomewide association mapping study using ultrasound-scanned information identifies potential genomic regions and candidate genes affecting carcass traits in Nellore cattle

The aim of this study was to identify candidate genes and genomic regions associated with ultrasound-derived measurements of the rib-eye area (REA), backfat thickness (BFT) and rumpfat thickness (RFT) in Nellore cattle. Data from 640 Nellore steers and young bulls with genotypes for 290 863 single nucleotide polymorphisms (SNPs) were used for genomewide association mapping. Significant SNP associations were explored to find possible candidate genes related to physiological processes. Several of the significant markers detected were mapped onto functional candidate genes including ARFGAP3, CLSTN2 and DPYD for REA; OSBPL3 and SUDS3 for BFT; and RARRES1 and VEPH1 for RFT. The physiological pathway related to lipid metabolism (CLSTN2, OSBPL3, RARRES1 and VEPH1) was identified. The significant markers within previously reported QTLs reinforce the importance of the genomic regions, and the other loci offer candidate genes that have not been related to carcass traits in previous investigations.

Identificação de SNPs para uma anomalia de desenvolvimento em E. grandis e seus efeitos na estrutura proteica e interatoma

Pós-graduação em Ciências Biológicas (Genética) - IBB

Imputation of microsatellite alleles from dense SNP genotypes for parentage verification across multiple Bos taurus and Bos indicus breeds

To assist cattle producers transition from microsatellite (MS) to single nucleotide polymorphism (SNP) genotyping for parental verification we previously devised an effective and inexpensive method to impute MS alleles from SNP haplotypes. While the reported method was verified with only a limited data set (N = 479) from Brown Swiss, Guernsey, Holstein, and Jersey cattle, some of the MS-SNP haplotype associations were concordant across these phylogenetically diverse breeds. This implied that some haplotypes predate modern breed formation and remain in strong linkage disequilibrium. To expand the utility of MS allele imputation across breeds, MS and SNP data from more than 8000 animals representing 39 breeds (Bos taurus and B. indicus) were used to predict 9410 SNP haplotypes, incorporating an average of 73 SNPs per haplotype, for which alleles from 12 MS markers could be accurately be imputed. Approximately 25% of the MS-SNP haplotypes were present in multiple breeds (N = 2 to 36 breeds). These shared haplotypes allowed for MS imputation in breeds that were not represented in the reference population with only a small increase in Mendelian inheritance inconsistancies. Our reported reference haplotypes can be used for any cattle breed and the reported methods can be applied to any species to aid the transition from MS to SNP genetic markers. While ~91% of the animals with imputed alleles for 12 MS markers had ≤1 Mendelian inheritance conflicts with their parents' reported MS genotypes, this figure was 96% for our reference animals, indicating potential errors in the reported MS genotypes. The workflow we suggest autocorrects for genotyping errors and rare haplotypes, by MS genotyping animals whose imputed MS alleles fail parentage verification, and then incorporating those animals into the reference dataset.

Análise de parentesco e variabilidade genética de pacu (Piaractus mesopotamicus) por meio de marcadores SNPs: subsídios para o melhoramento genético

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

Polimorfismos de nucleotídeo único (SNPs) nos genes codificadores da IL-10, TNF-α e em NFkB1 e sua associação com parâmetros clínicos, laboratoriais e de seguimento de pacientes com linfoma de Hodgkin clássico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

The Quality of Spousal Social Support as a Moderator of the Associations Between Child Maltreatment Severity and Adult Trauma Symptoms

Child maltreatment has been linked to a myriad of long-term difficulties, including trauma symptomatology. However, not all victims experience long-term distress. Thus, a burgeoning area of research focuses on factors that may impede or facilitate resiliency to the psychological correlates of child maltreatment. Specifically, the severity of the abusive acts may be associated with greater long-term difficulties. To date, however, with the exception of child sexual abuse, few studies have examined the severity of maltreatment as a risk factor in the development of trauma symptoms. In contrast, social support has been theorized to contribute to resiliency following abuse. However, to date, the majority of studies examining positive social support as a protective factor have relied on self-report measures of perceived social support, rather than observational measures of received social support. Moreover, no study to date has examined the role that negative social support (i.e, blaming, criticizing) may play in potentiating trauma symptoms among victims of child maltreatment. Because child maltreatment involves serious boundary violations by a trusted person, a marital relationship is an important domain in which to examine these constructs. That is, it may serve as an arena for the manifestation of psychological disturbances related to maltreatment. Thus, the present study examined whether observationally measured positive and negative spousal social support moderated the relationship between child maltreatment severity (i.e., sexual, physical, psychological abuse; neglect) and trauma symptomatology in women and men. Results indicated that the severity of each type of child maltreatment significantly predicted increased adult trauma symptomatology. Contrary to hypothesized outcomes, positive spousal social support did not predict decreased trauma symptomatology. However, negative spousal social support generally did predict increased trauma symptomatology. There were no consistent patterns of interactions between child maltreatment severity and either type of social support. Future directions for research will be discussed and clinical implications with regard to the intrapersonal and interpersonal functioning of child maltreatment victims will be highlighted.

Polimorfismos de nucleotídeo único (SNPs) nos genes codificadores da IL-10, TNF-α e em NFkB1 e sua associação com parâmetros clínicos, laboratoriais e de seguimento de pacientes com linfoma de Hodgkin clássico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Schizophrenia, brain disease and meta-analyses: Integrating the pieces and testing Fusar-Poli`s hypothesis

This paper aims to discuss and test the hypothesis raised by Fusar-Poli [Fusar-Poli P. Can neuroimaging prove that schizophrenia is a brain disease? A radical hypothesis. Medical Hypotheses in press, corrected proof] that ""on the basis of the available imaging literature there is no consistent evidence to reject the radical and provocative hypothesis that schizophrenia is not a brain disease"". To achieve this goal, all meta-analyses on `fMRI and schizophrenia` published during the current decade and indexed in Pubmed were summarized, as much as some other useful information, e.g., meta-analyses on genetic risk factors. Our main conclusion is that the literature fully supports the hypothesis that schizophrenia is a syndrome (not a disease) associated with brain abnormalities, despite the fact that there is no singular and reductionist pathway from the nosographic entity (schizophrenia) to its causes. This irreducibility is due to the fact that the syndrome has more than one dimension (e.g., cognitive, psychotic and negative) and each of them is related to abnormalities in specific neuronal networks. A psychiatric diagnosis is a statistical procedure; these dimensions are not identically represented in each diagnosticated case and this explains the existence of more than one pattern of brain abnormalities related to schizophrenia. For example, chronification is associated with negativism while the first psychotic episode is not; in that sense, the same person living with schizophrenia may reveal different symptoms and fMRI patterns along the course of his life, and this is precisely what defines schizophrenia since the time when it was called Dementia Praecox (first by pick then by Kraepelin). It is notable that 100% of the collected meta-analyses on `fMRI and schizophrenia` reveal positive findings. Moreover, all meta-analyses that found positive associations between schizophrenia and genetic risk factors have to do with genes (SNPs) especially activated in neuronal tissue of the central nervous system (CNS), suggesting that, to the extent these polymorphisms are related to schizophrenia`s etiology, they are also related to abnormal brain activity. (C) 2009 Elsevier Ltd. All rights reserved.

Association of single nucleotide polymorphisms in the bovine leptin and leptin receptor genes with growth and ultrasound carcass traits in Nellore cattle

Given the important role of leptin in metabolism, we looked for a possible association of leptin and leptin receptor polymorphisms with carcass and growth traits in Nellore cattle. We examined associations of leptin and leptin receptor SNPs with ultrasound carcass (longissimus dorsi muscle area (ribeye area), backfat thickness and rump fat thickness and growth traits (weaning weight adjusted to 210 days of age, yearling weight adjusted to 550 days of age, weight gain of weaning to yearling and scrotal circumference adjusted to 550 days of age) of 2162 Bos primigenius indicus (Nellore) animals. Allele and genotypic frequencies were calculated for each marker. Allele substitution, additive and dominance effects of the polymorphisms were also evaluated. Some alleles of the molecular markers had low frequencies, lower than 1%, in the sample analyzed, although the same polymorphisms described for B. p. taurus cattle were found. Due to very low allelic frequencies, the E2JW, A59V and UASMS2 markers were not included in the analysis, because they were almost fixed. E2FB was found to be significantly associated with weight gain, ribeye area and backfat thickness. The promoter region markers, C963T and UASMS1, were also found to be significantly associated with ribeye area. T945M was significantly associated with weight gain. We conclude that the leptin and receptor gene markers would be useful for marker-assisted selection.