134 research outputs found

    Genome-wide association of milk fatty acids in Dutch dairy cattle

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    Background Identifying genomic regions, and preferably individual genes, responsible for genetic variation in milk fat composition of bovine milk will enhance the understanding of biological pathways involved in fatty acid synthesis and may point to opportunities for changing milk fat composition via selective breeding. An association study of 50,000 single nucleotide polymorphisms (SNPs) was performed for even-chain saturated fatty acids (C4:0-C18:0), even-chain monounsaturated fatty acids (C10:1-C18:1), and the polyunsaturated C18:2cis9,trans11 (CLA) to identify genomic regions associated with individual fatty acids in bovine milk. Results The two-step single SNP association analysis found a total of 54 regions on 29 chromosomes that were significantly associated with one or more fatty acids. Bos taurus autosomes (BTA) 14, 19, and 26 showed highly significant associations with seven to ten traits, explaining a relatively large percentage of the total additive genetic variation. Many additional regions were significantly associated with the fatty acids. Some of the regions harbor genes that are known to be involved in fat synthesis or were previously identified as underlying quantitative trait loci for fat yield or content, such as ABCG2 and PPARGC1A on BTA 6; ACSS2 on BTA 13; DGAT1 on BTA 14; ACLY, SREBF1, STAT5A, GH, and FASN on BTA 19; SCD1 on BTA26; and AGPAT6 on BTA 27. Conclusions Medium chain and unsaturated fatty acids are strongly influenced by polymorphisms in DGAT1 and SCD1. Other regions also showed significant associations with the fatty acids studied. These additional regions explain a relatively small percentage of the total additive genetic variance, but they are relevant to the total genetic merit of an individual and in unraveling the genetic background of milk fat composition. Regions identified in this study can be fine mapped to find causal mutations. The results also create opportunities for changing milk fat composition through breeding by selecting individuals based on their genetic merit for milk fat composition

    Nitrogen excretion at different stages of growth and its association with production traits in growing pigs

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    The objectives of this study were to determine nitrogen loss at different stages of growth and during the entire growing period and to investigate the associations between nitrogen excretion and production traits in growing pigs. Data from 315 pigs of an F-2 population which originated from crossing Pietrain sires with a commercial dam line were used. Nitrogen retention was derived from protein retention as measured using the deuterium dilution technique during different stages of growth (60 to 90 kg, 90 to 120 kg, and 120 to 140 kg). Pigs were fed ad libitum with 2 pelleted diets containing 17% (60 to 90 kg) and 16.5% (90 to 120 and 120 to 140 kg) CP. Average daily nitrogen excretion (ADNE) within each stage of growth was calculated on the basis of the accumulated difference between average daily nitrogen intake (ADNI) and average daily nitrogen retention (ADNR). Least ADNE, nitrogen excretion per BW gain (NEWG) and total nitrogen excretion (TNE) were observed during growth from 60 to 90 kg. In contrast, the greatest ADNE, NEWG, and TNE were found during growth from 120 to 140 kg. Statistical analyses indicated that gender, housing type, the ryanodine receptor 1 (RYR1) gene, and batch influenced nitrogen excretion (P <0.05), but the degree and direction of influences differed between growth stages. Gender differences showed that gilts excreted less nitrogen than barrows (P <0.05), which was associated with decreased feed conversion ratio (FCR; feed: gain) and lipid: protein gain ratio. Single-housed pigs showed reduced nitrogen excretion compared with group-housed pigs (P <0.05). In comparison to other genotypes, pigs carrying genotype NN (homozygous normal) at the RYR1 locus had the least nitrogen excretion (P <0.05) at all stages of growth except from 60 to 90 kg. The residual correlations indicated that NEWG and TNE have large positive correlations with FCR (r = 0.99 and 0.91, respectively) and moderate negative correlations with ADG (r = -0.53 and -0.48, respectively), for the entire growing period. Improvement in FCR, increase in ADG and reduction in lipid: protein gain ratio by 1 phenotypic SD reduced TNE per pig by 709 g, 307 g, and 211 g, respectively, over the entire growing period. The results indicate that nitrogen excretion changes substantially during growth, and it can be reduced most effectively by improvement of feed efficiency and to a lesser extent through the improvement of BW gain or body composition or both

    Contemporary review of risk-stratified management in acute uncomplicated and complicated diverticulitis

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    BACKGROUND: Acute colonic diverticulitis is a common clinical condition. Severity of the disease is based on clinical, laboratory, and radiological investigations and dictates the need for medical or surgical intervention. Recent clinical trials have improved the understanding of the natural history of the disease resulting in new approaches to and better evidence for the management of acute diverticulitis. METHODS: We searched the Cochrane Library (years 2004-2015), MEDLINE (years 2004-2015), and EMBASE (years 2004-2015) databases. We used the search terms "diverticulitis, colonic" or "acute diverticulitis" or "divertic*" in combination with the terms "management," "antibiotics," "non-operative," or "surgery." Registers for clinical trials (such as the WHO registry and the https://clinicaltrials.gov/) were searched for ongoing, recruiting, or closed trials not yet published. RESULTS: Antibiotic treatment can be avoided in simple, non-complicated diverticulitis and outpatient management is safe. The management of complicated disease, ranging from a localized abscess to perforation with diffuse peritonitis, has changed towards either percutaneous or minimally invasive approaches in selected cases. The role of laparoscopic lavage without resection in perforated non-fecal diverticulitis is still debated; however, recent evidence from two randomised controlled trials has found a higher re-intervention in this group of patients. CONCLUSIONS: A shift in management has occurred towards conservative management in acute uncomplicated disease. Those with uncomplicated acute diverticulitis may be treated without antibiotics. For complicated diverticulitis with purulent peritonitis, the use of peritoneal lavage appears to be non-superior to resection

    Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay

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    <p>Abstract</p> <p>Background</p> <p>Repeated blocks of genome sequence have been shown to be associated with genetic diversity and disease risk in humans, and with phenotypic diversity in model organisms and domestic animals. Reliable tests are desirable to determine whether individuals are carriers of copy number variants associated with disease risk in humans and livestock, or associated with economically important traits in livestock. In some cases, copy number variants affect the phenotype through a dosage effect but in other cases, allele combinations have non-additive effects. In the latter cases, it has been difficult to develop tests because assays typically return an estimate of the sum of the copy number counts on the maternally and paternally inherited chromosome segments, and this sum does not uniquely determine the allele configuration. In this study, we show that there is an old solution to this new problem: segregation analysis, which has been used for many years to infer alleles in pedigreed populations.</p> <p>Methods</p> <p>Segregation analysis was used to estimate copy number alleles from assay data on simulated half-sib sheep populations. Copy number variation at the Agouti locus, known to be responsible for the recessive self-colour black phenotype, was used as a model for the simulation and an appropriate penetrance function was derived. The precision with which carriers and non-carriers of the undesirable single copy allele could be identified, was used to evaluate the method for various family sizes, assay strategies and assay accuracies.</p> <p>Results</p> <p>Using relationship data and segregation analysis, the probabilities of carrying the copy number alleles responsible for black or white fleece were estimated with much greater precision than by analyzing assay results for animals individually. The proportion of lambs correctly identified as non-carriers of the undesirable allele increased from 7% when the lambs were analysed alone to 80% when the lambs were analysed in half-sib families.</p> <p>Conclusions</p> <p>When a quantitative assay is used to estimate copy number alleles, segregation analysis of related individuals can greatly improve the precision of the estimates. Existing software for segregation analysis would require little if any change to accommodate the penetrance function for copy number assay data.</p

    The Imprinted Gene DIO3 Is a Candidate Gene for Litter Size in Pigs

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    Genomic imprinting is an important epigenetic phenomenon, which on the phenotypic level can be detected by the difference between the two heterozygote classes of a gene. Imprinted genes are important in both the development of the placenta and the embryo, and we hypothesized that imprinted genes might be involved in female fertility traits. We therefore performed an association study for imprinted genes related to female fertility traits in two commercial pig populations. For this purpose, 309 SNPs in fifteen evolutionary conserved imprinted regions were genotyped on 689 and 1050 pigs from the two pig populations. A single SNP association study was used to detect additive, dominant and imprinting effects related to four reproduction traits; total number of piglets born, the number of piglets born alive, the total weight of the piglets born and the total weight of the piglets born alive. Several SNPs showed significant () additive and dominant effects and one SNP showed a significant imprinting effect. The SNP with a significant imprinting effect is closely linked to DIO3, a gene involved in thyroid metabolism. The imprinting effect of this SNP explained approximately 1.6% of the phenotypic variance, which corresponded to approximately 15.5% of the additive genetic variance. In the other population, the imprinting effect of this QTL was not significant (), but had a similar effect as in the first population. The results of this study indicate a possible association between the imprinted gene DIO3 and female fertility traits in pigs
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