Evaluation of polygenic determinants of non-alcoholic fatty liver disease (NAFLD) by a candidate genes resequencing strategy

NAFLD is a polygenic condition but the individual and cumulative contribution of identified genes remains to be established. To get additional insight into the genetic architecture of NAFLD, GWAS-identified GCKR, PPP1R3B, NCAN, LYPLAL1 and TM6SF2 genes were resequenced by next generation sequencing in a cohort of 218 NAFLD subjects and 227 controls, where PNPLA3 rs738409 and MBOAT7 rs641738 genotypes were also obtained. A total of 168 sequence variants were detected and 47 were annotated as functional. When all functional variants within each gene were considered, only those in TM6SF2 accumulate in NAFLD subjects compared to controls (P = 0.04). Among individual variants, rs1260326 in GCKR and rs641738 in MBOAT7 (recessive), rs58542926 in TM6SF2 and rs738409 in PNPLA3 (dominant) emerged as associated to NAFLD, with PNPLA3 rs738409 being the strongest predictor (OR 3.12, 95% CI, 1.8-5.5, P 0.28 was associated with a 3-fold increased risk of NAFLD. Interestingly, rs61756425 in PPP1R3B and rs641738 in MBOAT7 genes were predictors of NAFLD severity. Overall, TM6SF2, GCKR, PNPLA3 and MBOAT7 were confirmed to be associated with NAFLD and a score based on these genes was highly predictive of this condition. In addition, PPP1R3B and MBOAT7 might influence NAFLD severity

Σ−p\Sigma^- p emission rates in K−K^- absorptions at rest on 6^6Li, 7^7Li, 9^{9}Be, 13^{13}C and 16^{16}O

An experimental study of the $K^-_{stop}A\rightarrow \Sigma^- p A'$ reaction on $A=^6$Li, $^7$Li, $^9$Be, $^{13}$C and $^{16}$O $p$-shell nuclei is presented. The data were collected by the FINUDA spectrometer operating at the DA$\Phi$NE $\phi$-factory (LNF-INFN, Italy). Emission rates for the reaction in the mentioned nuclei are measured and compared with the few existing data. The spectra of several observables are discussed; indications of Quasi-Free absorptions by a $(np)$ pair embedded in the $A$ nucleus can be obtained from the study of the missing mass distributions.Comment: Version accepted by PR

A study of the proton spectra following the capture of K−K^- in 6^6Li and 12^{12}C with FINUDA

Momenta spectra of protons emitted following the capture of $K^-$ in $^6$Li and $^{12}$C have been measured with 1% resolution. The $^{12}$C spectrum is smooth whereas for $^6$Li a well defined peak appears at about 500 MeV/$c$. The first observation of a structure in this region was identified as a strange tribaryon or, possibly, a $\bar K$-nuclear state. The peak is correlated with a $\pi^-$ coming from $\Sigma^-$ decay in flight, selected by setting momenta larger than 275 MeV/$c$. The $\Sigma^-$ could be produced, together with a 500 MeV/$c$ proton, by the capture of a $K^-$ in a deuteron-cluster substructure of the $^6$Li nucleus. The capture rate for such a reaction is (1.62\pm 0.23_{stat} ^{+0.71}_{-0.44}(sys))%/K^-_{stop}, in agreement with the existing observations on $^4$He targets and with the hypothesis that the $^6$Li nucleus can be interpreted as a $(d+\alpha)$ cluster.Comment: 21 pages, 10 figures. Accepted for publication in NP

Correlated Λd\Lambda d pairs from the Kstop−A→ΛdA′K^{-}_{stop} A \to \Lambda d A' reaction

Correlated $\Lambda d$ pairs emitted after the absorption of negative kaons at rest $K^{-}_{stop}A\to \Lambda d A'$ in light nuclei $^6Li$ and $^{12}C$ are studied. $\Lambda$-hyperons and deuterons are found to be preferentially emitted in opposite directions. The $\Lambda d$ invariant mass spectrum of $^6Li$ shows a bump whose mass is 3251$\pm$6 MeV/c$^2$. The bump mass (binding energy), width and yield are reported. The appearance of a bump is discussed in the realm of the [$\bar{K}3N$] clustering process in nuclei. The experiment was performed with the FINUDA spectrometer at DA$\Phi$NE (LNF).Comment: 13 pages, 5 figures, accepted for publication in Phys. Lett.

Proton spectra from Non-Mesonic Weak Decay of p-shell Lambda-Hypernuclei and evidence for the two-nucleon induced process

New spectra from the FINUDA experiment of the Non Mesonic Weak Decay (NMWD) proton kinetic energy for 9(Lambda)Be, 11(Lambda)B, 12(Lambda)C, 13(Lambda)C, 15 (Lambda)N and 16(Lambda)O are presented and discussed along with the published data on 5(Lambda)He and 7(Lambda)Li. Exploiting the large mass number range and the low energy threshold (15 MeV) for the proton detection of FINUDA, an evaluation of both Final State Interactions (FSI) and the two nucleon induced NMWD contributions to the decay process has been done. Based on this evaluation, a linear dependence of FSI on the hypernuclear mass number A is found and for the two nucleon stimulated decay rate the experimental value of Gamma2/Gammap=0.43+-0.25 is determined for the first time. A value for the two nucleon stimulated decay rate to the total decay rate Gamma2/GammaNMWD=0.24+-0.10 is also extracted.Comment: 11 pages and 2 figure

Multiplicity dependence of jet-like two-particle correlations in p-Pb collisions at sNN\sqrt{s_{NN}} = 5.02 TeV

Two-particle angular correlations between unidentified charged trigger and associated particles are measured by the ALICE detector in p-Pb collisions at a nucleon-nucleon centre-of-mass energy of 5.02 TeV. The transverse-momentum range 0.7 $< p_{\rm{T}, assoc} < p_{\rm{T}, trig} <$ 5.0 GeV/$c$ is examined, to include correlations induced by jets originating from low momen\-tum-transfer scatterings (minijets). The correlations expressed as associated yield per trigger particle are obtained in the pseudorapidity range $|\eta|<0.9$. The near-side long-range pseudorapidity correlations observed in high-multiplicity p-Pb collisions are subtracted from both near-side short-range and away-side correlations in order to remove the non-jet-like components. The yields in the jet-like peaks are found to be invariant with event multiplicity with the exception of events with low multiplicity. This invariance is consistent with the particles being produced via the incoherent fragmentation of multiple parton--parton scatterings, while the yield related to the previously observed ridge structures is not jet-related. The number of uncorrelated sources of particle production is found to increase linearly with multiplicity, suggesting no saturation of the number of multi-parton interactions even in the highest multiplicity p-Pb collisions. Further, the number scales in the intermediate multiplicity region with the number of binary nucleon-nucleon collisions estimated with a Glauber Monte-Carlo simulation.Comment: 23 pages, 6 captioned figures, 1 table, authors from page 17, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/161

Multi-particle azimuthal correlations in p-Pb and Pb-Pb collisions at the CERN Large Hadron Collider

Measurements of multi-particle azimuthal correlations (cumulants) for charged particles in p-Pb and Pb-Pb collisions are presented. They help address the question of whether there is evidence for global, flow-like, azimuthal correlations in the p-Pb system. Comparisons are made to measurements from the larger Pb-Pb system, where such evidence is established. In particular, the second harmonic two-particle cumulants are found to decrease with multiplicity, characteristic of a dominance of few-particle correlations in p-Pb collisions. However, when a $|\Delta \eta|$ gap is placed to suppress such correlations, the two-particle cumulants begin to rise at high-multiplicity, indicating the presence of global azimuthal correlations. The Pb-Pb values are higher than the p-Pb values at similar multiplicities. In both systems, the second harmonic four-particle cumulants exhibit a transition from positive to negative values when the multiplicity increases. The negative values allow for a measurement of $v_{2}\{4\}$ to be made, which is found to be higher in Pb-Pb collisions at similar multiplicities. The second harmonic six-particle cumulants are also found to be higher in Pb-Pb collisions. In Pb-Pb collisions, we generally find $v_{2}\{4\} \simeq v_{2}\{6\}\neq 0$ which is indicative of a Bessel-Gaussian function for the $v_{2}$ distribution. For very high-multiplicity Pb-Pb collisions, we observe that the four- and six-particle cumulants become consistent with 0. Finally, third harmonic two-particle cumulants in p-Pb and Pb-Pb are measured. These are found to be similar for overlapping multiplicities, when a $|\Delta\eta| > 1.4$ gap is placed.Comment: 25 pages, 11 captioned figures, 3 tables, authors from page 20, published version, figures at http://aliceinfo.cern.ch/ArtSubmission/node/87

Association of Hypertriglyceridemia with All-Cause Mortality and Atherosclerotic Cardiovascular Events in a Low-Risk Italian Population: The TG-REAL Retrospective Cohort Analysis

Background Evidence regarding the relationships among high plasma triglycerides (TG), all-cause mortality, and atherosclerotic cardiovascular disease (ASCVD) events in low-to-moderate risk individuals is limited. The aim of this study was to determine whether the presence of high TG levels influences the risk of all-cause mortality and ASCVD events in a population cohort followed in the real-world clinical setting. Methods and Results A retrospective longitudinal cohort analysis using administrative databases of 3 Italian Local Health Units was performed. All individuals with at least one TG measurement between January 1, 2010 and December 31, 2015 were followed through December 2016. Outcome measures included incident ASCVD events and all-cause mortality. Individuals with normal TG levels (&lt;150 mg/dL) were compared with those with high (150-500 mg/dL) and very high TG (&gt;500 mg/dL). 158 042 individuals (142 289 with normal, 15 558 with high, and 195 with very high TG) were considered. In the whole cohort, the overall incidence rates of ASCVD and all-cause mortality were 7.2 and 17.1 per 1000 person-years, respectively. After multivariate adjustment for potential confounders, individuals with high and very high TG showed a significantly increased risk of all-cause mortality (hazard ratio [HR]=1.49 [95% confidence interval (CI) 1.36-1.63], P&lt;0.001, and HR=3.08 [95% CI 1.46-6.50], P&lt;0.01, respectively) and incident ASCVD events (HR=1.61 [95% CI 1.43-1.82], P&lt;0.001, and HR=2.30 [95% CI 1.02-5.18], P&lt;0.05, respectively) as compared to those with normal TG. Conclusions Moderate-to-severe elevation of TG is associated with a significantly increased risk of all-cause mortality and ASCVD events in a large cohort of low-to-moderate cardiovascular risk individuals in a real-world clinical setting