329 research outputs found
Effect of Fermentation on the Protein Digestibility and Levels of Non-Nutritive Compounds of Pea Protein Concentrate
Radi utvrÄivanja utjecaja fermentacije na kakvoÄu proteina u koncentratu proteina graĆĄka ispitani su sljedeÄi parametri: udjel ukupnih fenola i tanina, aktivnost inhibitora proteaze, sastav aminokiselina i probavljivost proteina in vitro nakon 11 sati fermentacije s pomoÄu bakterije Lactobacillus plantarum. Maseni se udjel fenola u koncentratu proteina graĆĄka, izraĆŸen kao ekvivalent katehina, poveÄao na bazi suhe tvari s 2,5 pri 0 h na 4,9 mg/g nakon 11 sati fermentacije. Udjel tanina se poveÄao s 0,14 pri 0 h na maksimalnih 0,96 mg/g koncentrata nakon 5 h fermentacije, a zatim se smanjio na 0,79 mg/g nakon 11 h fermentacije. Nakon 9 h fermentacije smanjila se aktivnost inhibitora tripsina, meÄutim, pri svim ostalim vremenima fermentacije dobivene su vrijednosti sliÄne onima pri 0 h. Aktivnost se inhibitora kimotripsina smanjila s 3,7 na 1,1 jedinicu inhibicije kimotripsina po mg nakon 11 sati fermentacije. Probavljivost je proteina dosegla maksimalnu vrijednost od 87,4 % nakon 5 sati fermentacije, meÄutim vrijednost aminokiselina koje sadrĆŸavaju sumpor smanjila se s 0,84 pri 0 h na 0,66 nakon 11 h fermentacije. Smanjenjem udjela sumpora promijenila se vrijednost aminokiselina korigirana probavljivoĆĄÄu proteina in vitro s 67,0 pri 0 h na 54,6 % nakon 11 h fermentacije. Dobiveni podaci potvrÄuju da je, iako je fermentacija valjana metoda za smanjenje udjela nekih nenutritivnih sastojaka u koncentratu proteina graĆĄka, potrebno odabrati odgovarajuÄe bakterije koje nemaju izraĆŸenu sposobnost razgradnje aminokiselina ĆĄto sadrĆŸavaju sumpor.In order to determine the impact of fermentation on protein quality, pea protein concentrate (PPC) was fermented with Lactobacillus plantarum for 11 h and total phenol and tannin contents, protease inhibitor activity, amino acid composition and in vitro protein digestibility were analyzed. Phenol levels, expressed as catechin equivalents (CE), increased on dry mass basis from 2.5 at 0 h to 4.9 mg CE per 1 g of PPC at 11 h. Tannin content rose from 0.14 at 0 h to a maximum of 0.96 mg CE per 1 g of PPC after 5 h, and thereafter declined to 0.79 mg/g after 11 h. After 9 h of fermentation trypsin inhibitor activity decreased, however, at all other fermentation times similar levels to the PPC at time 0 h were produced. Chymotrypsin inhibitor activity decreased from 3.7 to 1.1 chymotrypsin inhibitory units (CIU) per mg following 11 h of fermentation. Protein digestibility reached a maximum (87.4 %) after 5 h of fermentation, however, the sulfur amino acid score was reduced from 0.84 at 0 h to 0.66 at 11 h. This reduction in sulfur content altered the in vitro protein digestibility-corrected amino acid score from 67.0 % at 0 h to 54.6 % at 11 h. These data suggest that while fermentation is a viable method of reducing certain non-nutritive compounds in pea protein concentrate, selection of an alternative bacterium which metabolises sulfur amino acids to a lesser extent than L. plantarum should be considered
Strong signature of natural selection within an FHIT intron implicated in prostate cancer risk
Previously, a candidate gene linkage approach on brother pairs affected with prostate cancer identified a locus of prostate cancer susceptibility at D3S1234 within the fragile histidine triad gene (FHIT), a tumor suppressor that induces apoptosis. Subsequent association tests on 16 SNPs spanning approximately 381 kb surrounding D3S1234 in Americans of European descent revealed significant evidence of association for a single SNP within intron 5 of FHIT. In the current study, resequencing and genotyping within a 28.5 kb region surrounding this SNP further delineated the association with prostate cancer risk to a 15 kb region. Multiple SNPs in sequences under evolutionary constraint within intron 5 of FHIT defined several related haplotypes with an increased risk of prostate cancer in European-Americans. Strong associations were detected for a risk haplotype defined by SNPs 138543, 142413, and 152494 in all cases (Pearson's Ï2 = 12.34, df 1, P = 0.00045) and for the homozygous risk haplotype defined by SNPs 144716, 142413, and 148444 in cases that shared 2 alleles identical by descent with their affected brothers (Pearson's Ï2 = 11.50, df 1, P = 0.00070). In addition to highly conserved sequences encompassing SNPs 148444 and 152413, population studies revealed strong signatures of natural selection for a 1 kb window covering the SNP 144716 in two human populations, the European American (Ï = 0.0072, Tajima's D= 3.31, 14 SNPs) and the Japanese (Ï = 0.0049, Fay & Wu's H = 8.05, 14 SNPs), as well as in chimpanzees (Fay & Wu's H = 8.62, 12 SNPs). These results strongly support the involvement of the FHIT intronic region in an increased risk of prostate cancer. © 2008 Ding et al
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Biological, clinical and population relevance of 95 loci for blood lipids.
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants associated with plasma lipids in >100,000 individuals of European ancestry. Here we report 95 significantly associated loci (P < 5 x 10(-8)), with 59 showing genome-wide significant association with lipid traits for the first time. The newly reported associations include single nucleotide polymorphisms (SNPs) near known lipid regulators (for example, CYP7A1, NPC1L1 and SCARB1) as well as in scores of loci not previously implicated in lipoprotein metabolism. The 95 loci contribute not only to normal variation in lipid traits but also to extreme lipid phenotypes and have an impact on lipid traits in three non-European populations (East Asians, South Asians and African Americans). Our results identify several novel loci associated with plasma lipids that are also associated with CAD. Finally, we validated three of the novel genes-GALNT2, PPP1R3B and TTC39B-with experiments in mouse models. Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD
Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project
Waist-to-hip ratio (WHR), a relative comparison of waist and hip circumferences, is an easily accessible measurement of body fat distribution, in particular central abdominal fat. A high WHR indicates more intra-abdominal fat deposition and is an established risk factor for cardiovascular disease and type 2 diabetes. Recent genome-wide association studies have identified numerous common genetic loci influencing WHR, but the contributions of rare variants have not been previously reported. We investigated rare variant associations with WHR in 1510 European-American and 1186 African-American women from the National Heart, Lung, and Blood Institute-Exome Sequencing Project. Association analysis was performed on the gene level using several rare variant association methods. The strongest association was observed for rare variants in IKBKB (P=4.0 Ă 10â8) in European-Americans, where rare variants in this gene are predicted to decrease WHRs. The activation of the IKBKB gene is involved in inflammatory processes and insulin resistance, which may affect normal food intake and body weight and shape. Meanwhile, aggregation of rare variants in COBLL1, previously found to harbor common variants associated with WHR and fasting insulin, were nominally associated (P=2.23 Ă 10â4) with higher WHR in European-Americans. However, these significant results are not shared between African-Americans and European-Americans that may be due to differences in the allelic architecture of the two populations and the small sample sizes. Our study indicates that the combined effect of rare variants contribute to the inter-individual variation in fat distribution through the regulation of insulin response
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De Novo Mutations across 1,465 Diverse Genomes Reveal Mutational insights and Reductions in the amish Founder Population
De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose impact is relevant to studies of human evolution, genetics, and disease. Utilizing high-coverage whole-genome sequencing data as part of the Trans-Omics for Precision Medicine (TOPMed) Program, we called 93,325 single-nucleotide DNMs across 1,465 trios from an array of diverse human populations, and used them to directly estimate and analyze DNM counts, rates, and spectra. We find a significant positive correlation between local recombination rate and local DNM rate, and that DNM rate explains a substantial portion (8.98 to 34.92%, depending on the model) of the genome-wide variation in population-level genetic variation from 41K unrelated toPMed samples. Genome-wide heterozygosity does correlate with DNM rate, but only explain
Measurement of the production of a W boson in association with a charm quark in pp collisions at âs = 7 TeV with the ATLAS detector
The production of a W boson in association with a single charm quark is studied using 4.6 fbâ1 of pp collision data at sâ = 7 TeV collected with the ATLAS detector at the Large Hadron Collider. In events in which a W boson decays to an electron or muon, the charm quark is tagged either by its semileptonic decay to a muon or by the presence of a charmed meson. The integrated and differential cross sections as a function of the pseudorapidity of the lepton from the W-boson decay are measured. Results are compared to the predictions of next-to-leading-order QCD calculations obtained from various parton distribution function parameterisations. The ratio of the strange-to-down sea-quark distributions is determined to be 0.96+0.26â0.30 at Q 2 = 1.9 GeV2, which supports the hypothesis of an SU(3)-symmetric composition of the light-quark sea. Additionally, the cross-section ratio Ï(W + +cÂŻÂŻ)/Ï(W â + c) is compared to the predictions obtained using parton distribution function parameterisations with different assumptions about the sâsÂŻÂŻÂŻ quark asymmetry
ATLAS Run 2 searches for electroweak production of supersymmetric particles interpreted within the pMSSM
A summary of the constraints from searches performed by the ATLAS collaboration for the electroweak production of charginos and neutralinos is presented. Results from eight separate ATLAS searches are considered, each using 140 fbâ1 of proton-proton data at a centre-of-mass energy of â = 13 TeV collected at the Large Hadron Collider during its second data-taking run. The results are interpreted in the context of the 19-parameter phenomenological minimal supersymmetric standard model, where R-parity conservation is assumed and the lightest supersymmetric particle is assumed to be the lightest neutralino. Constraints from previous electroweak, flavour and dark matter related measurements are also considered. The results are presented in terms of constraints on supersymmetric particle masses and are compared with limits from simplified models. Also shown is the impact of ATLAS searches on parameters such as the dark matter relic density and the spin-dependent and spin-independent scattering cross-sections targeted by direct dark matter detection experiments. The Higgs boson and Z boson âfunnel regionsâ, where a low-mass neutralino would not oversaturate the dark matter relic abundance, are almost completely excluded by the considered constraints. Example spectra for non-excluded supersymmetric models with light charginos and neutralinos are also presented
Constraints on the Higgs boson self-coupling from single- and double-Higgs production with the ATLAS detector using pp collisions at âs=13 TeV
Constraints on the Higgs boson self-coupling are set by combining double-Higgs boson analyses in the bbÌ
bbÌ
, bbÌ
Ï+Ïâ and bbÌ
γγ decay channels with single-Higgs boson analyses targeting the γγ, ZZâ, WWâ, Ï+Ïâ and bbÌ
decay channels. The data used in these analyses were recorded by the ATLAS detector at the LHC in protonâproton collisions at âs = 13 TeV and correspond to an integrated luminosity of 126â139 fbâ1. The combination of the double-Higgs analyses sets an upper limit of
ÎŒHH <2.4 at 95% confidence level on the double-Higgs production cross-section normalised to its Standard Model prediction. Combining the single-Higgs and double-Higgs analyses, with the assumption
that new physics affects only the Higgs boson self-coupling (λHHH ), values outside the interval â0.4 < Îșλ = (λHHH /λSMHHH) < 6.3 are excluded at 95% confidence level. The combined single-Higgs and double-Higgs analyses provide results with fewer assumptions, by adding in the fit more coupling modifiers introduced to account for the Higgs boson interactions with the other Standard Model particles. In this relaxed scenario, the constraint becomes â1.4 < Îșλ < 6.1 at 95% CL
Centers For Mendelian Genomics: a Decade of Facilitating Gene Discovery
PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration.
METHODS: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution.
RESULTS: We highlight the cumulative gene discoveries facilitated by the program, biomedical research leveraged by the approach, and the larger impact on the research community. Beyond generating a list of gene-phenotype relationships and participating in widespread data sharing, the CMGs have created resources, tools, and training for the larger community to foster understanding of genes and genome variation. The CMGs have participated in a wide range of data sharing activities, including deposition of all eligible CMG data into the Analysis, Visualization, and Informatics Lab-space (AnVIL), sharing candidate genes through the Matchmaker Exchange and the CMG website, and sharing variants in Genotypes to Mendelian Phenotypes (Geno2MP) and VariantMatcher.
CONCLUSION: The work is far from complete; strengthening communication between research and clinical realms, continued development and sharing of knowledge and tools, and improving access to richly characterized data sets are all required to diagnose the remaining molecularly undiagnosed patients
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