| 1. |
- Anastasi, A., et al.
(författare)
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Combination of KLOE sigma (e(+) e(-) -> pi(+)pi(-) gamma(gamma)) measurements and determination of a(mu)(pi+pi-) in the energy range 0.10 < s < 0.95 GeV2
- 2018
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Ingår i: Journal of High Energy Physics (JHEP). - : Springer. - 1126-6708 .- 1029-8479. ; :3
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Tidskriftsartikel (refereegranskat)abstract
- The three precision measurements of the cross section sigma (e(+)e(-) -> pi(+)pi(-)gamma(gamma)) using initial state radiation by the KLOE collaboration provide an important input for the prediction of the hadronic contribution to the anomalous magnetic moment of the muon. These measurements are correlated for both statistical and systematic uncertainties and, therefore, the simultaneous use of these measurements requires covariance matrices that fully describe the correlations. We present the construction of these covariance matrices and use them to determine a combined KLOE measurement for sigma (e(+)e(-) -> pi(+)pi(-)gamma(gamma)). We find, from this combination, a two-pion contribution to the muon magnetic anomaly in the energy range 0.10 < s < 0.95 GeV2 of a(mu)(pi+pi-) (489.8 +/- 1.7(stat) +/- 4.8(sys)) x 10(-10).
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| 2. |
- Anastasi, A., et al.
(författare)
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Measurement of the charge asymmetry for the K-S -> pi e nu decay and test of CPT symmetry with the KLOE detector
- 2018
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Ingår i: Journal of High Energy Physics (JHEP). - : SPRINGER. - 1126-6708 .- 1029-8479. ; :9
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Tidskriftsartikel (refereegranskat)abstract
- Using 1.63 fb(-1) of integrated luminosity collected by the KLOE experiment about 7 x 10(4) K-S -> pi(+/-)e(-/+)nu decays have been reconstructed. The measured value of the charge asymmetry for this decay is A(S) = (-4.9 +/- 5.7(stat) +/- 2.6(syst)) x 10(-3) which is almost twice more precise than the previous KLOE result. The combination of these two measurements gives A(S) = (3.8 +/- 5.0(stat) +/- 2.6(syst)) x 10(-3) and, together with the asymmetry of the K-L semileptonic decay, provides significant tests of the CPT symmetry. The obtained results are in agreement with CPT invariance.
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| 3. |
- Babusci, D., et al.
(författare)
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Measurement of the branching fraction for the decay K-S -> pi mu nu with the KLOE detector
- 2020
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Ingår i: Physics Letters B. - : ELSEVIER. - 0370-2693 .- 1873-2445. ; 804
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Tidskriftsartikel (refereegranskat)abstract
- Based on a sample of 300 million K-S mesons produced in phi -> KLKS decays recorded by the KLOE experiment at the DA Phi NE e(+)e(-) collider we have measured the branching fraction for the decay K-S -> pi mu nu. The K-S mesons are identified by the interaction of K-L mesons in the detector. The K-S -> pi mu nu decays are selected by a boosted decision tree built with kinematic variables and by a time-of-flight measurement. Signal efficiencies are evaluated with data control samples of K-L -> pi mu nu decays. A fit to the reconstructed muon mass distribution finds 7223 +/- 180 signal events. Normalising to the K-S -> pi(+)pi(-) decay events the result for the branching fraction is B(K-S -> pi mu nu) = (4.56 +/- 0.11(stat) +/- 0.17(syst)) x 10(-4). It is the first measurement of this decay mode and the result allows an independent determination of vertical bar V-us vertical bar and a test of the lepton-flavour universality. (c) 2020 The Author. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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| 4. |
- Babusci, D., et al.
(författare)
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Upper limit on the eta -> pi(+)pi(-) branching fraction with the KLOE experiment
- 2020
-
Ingår i: Journal of High Energy Physics (JHEP). - : SPRINGER. - 1126-6708 .- 1029-8479. ; :10
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Tidskriftsartikel (refereegranskat)abstract
- Based on an integrated luminosity of 1.61 fb(-1)e(+)e(-) collision data collected with the KLOE detector at DA Phi NE, the Frascati phi -factory, a search for the P- and CP-violating decay eta -> pi (+)pi (-) has been performed. Radiative phi -> eta gamma decay is exploited to access the eta mesons. No signal is observed in the pi (+)pi (-) invariant mass spectrum, and the upper limit on the branching fraction at 90% confidence level is determined to be B(eta -> pi (+)pi (-)) < 4.9 x 10(-6), which is approximately three times smaller than the previous KLOE result. From the combination of these two measurements we get B( -> pi (+)pi (-)) < 4.4 x 10(-6) at 90% confidence level.
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| 5. |
- Prikhna, T., et al.
(författare)
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Effects of high pressure on the physical properties of MgB2
- 2011
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Ingår i: Journal of Superconductivity and Novel Magnetism. - : Springer Science and Business Media LLC. - 1557-1939 .- 1557-1947. ; 24:5, s. 137-150
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Tidskriftsartikel (refereegranskat)abstract
- The synthesis of MgB2-based materials under high pressure gave the possibility to suppress the evaporation of magnesium and to obtain near theoretically dense nanograined structures with high superconducting, thermal conducting, and mechanical characteristics: critical current densities of 1.8-1.0×106 A/cm2 in the self-field and 103 A/cm2 in a magnetic field of 8 T at 20 K, 5-3×105 A/cm2 in self-field at 30 K, the corresponding critical fields being Hc2=15 T at 22 K and irreversible fields Hirr=13 T at 20 K, and Hirr=3.5 T at 30 K, thermal conduction of 53±2 W/(m{dot operator}K), the Vickers hardness HV=10.12±0.2 GPa under a load of 148.8 N and the fracture toughness K1 C=7.6±2.0 MPa{dot operator}m0.5 under the same load, the Young modulus E=213 GPa. Estimation of quenching current and AC losses allowed the conclusion that high-pressure-prepared materials are promising for application in transformer-type fault current limiters working at 20-30 K.
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| 6. |
- Anastasi, A., et al.
(författare)
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Combined limit on the production of a light gauge boson decaying into mu(+) mu(-) and pi(+) pi(-)
- 2018
-
Ingår i: Physics Letters B. - : ELSEVIER SCIENCE BV. - 0370-2693 .- 1873-2445. ; 784, s. 336-341
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Tidskriftsartikel (refereegranskat)abstract
- We searched for the mu(+) mu(-) decay of a light vector gauge boson, also known as dark photon, in the e(+) e(-) -> mu(+) mu(-) gamma(ISR) process by means of the Initial State Radiation (ISR) method. We used 1.93fb(-1) of data collected by the KLOE experiment at the DA Phi NE phi-factory. No structures have been observed over the irreducible mu(+) mu(-) background. A 90% CL limit on the ratio epsilon(2)= alpha'/alpha between the dark coupling constant and the fine structure constant of 3 x 10(-6)-2 x 10(-7) has been set in the dark photon mass region between 519 MeV and 973 MeV. This new limit has been combined with the published result obtained investigating the hypothesis of the dark photon decaying into hadrons in e(+) e(-) -> pi(+) pi(-) gamma(ISR) events. The combined 90% CL limit increases the sensitivity especially in the rho-omega interference region and excludes epsilon(2) greater than (13 - 2) x 10(-7). For dark photon masses greater than 600 MeV the combined limit is lower than 8 x 10(-7) resulting more stringent than present constraints from other experiments.
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| 7. |
- Babusci, D., et al.
(författare)
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Precision tests of quantum mechanics and CPT symmetry with entangled neutral kaons at KLOE
- 2022
-
Ingår i: Journal of High Energy Physics (JHEP). - : Springer Nature. - 1126-6708 .- 1029-8479.
-
Tidskriftsartikel (refereegranskat)abstract
- The quantum interference between the decays of entangled neutral kaons is studied in the process phi -> KSKL -> pi(+)pi(-)pi(+)pi(-), which exhibits the characteristic Einstein-Podolsky-Rosen correlations that prevent both kaons to decay into pi(+)pi(-) at the same time. This constitutes a very powerful tool for testing at the utmost precision the quantum coherence of the entangled kaon pair state, and to search for tiny decoherence and CPT violation effects, which may be justified in a quantum gravity framework. The analysed data sample was collected with the KLOE detector at DA Phi NE, the Frascati phi-factory, and corresponds to an integrated luminosity of about 1.7 fb(-1), i.e. to about 1.7 x 10(9) phi -> KSKL decays produced. From the fit of the observed Delta t distribution, being Delta t the difference of the kaon decay times, the decoherence and CPT violation parameters of various phenomenological models are measured with a largely improved accuracy with respect to previous analyses. The results are consistent with no deviation from quantum mechanics and CPT symmetry, while for some parameters the precision reaches the interesting level at which - in the most optimistic scenarios - quantum gravity effects might show up. They provide the most stringent limits up to date on the considered models.
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| 8. |
- Christmas, Matthew, et al.
(författare)
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Evolutionary constraint and innovation across hundreds of placental mammals
- 2023
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 380:6643
-
Tidskriftsartikel (refereegranskat)abstract
- Zoonomia is the largest comparative genomics resource for mammals produced to date. By aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect fitness and alter disease risk. At least 332 million bases (similar to 10.7%) in the human genome are unusually conserved across species (evolutionarily constrained) relative to neutrally evolving repeats, and 4552 ultraconserved elements are nearly perfectly conserved. Of 101 million significantly constrained single bases, 80% are outside protein-coding exons and half have no functional annotations in the Encyclopedia of DNA Elements (ENCODE) resource. Changes in genes and regulatory elements are associated with exceptional mammalian traits, such as hibernation, that could inform therapeutic development. Earth's vast and imperiled biodiversity offers distinctive power for identifying genetic variants that affect genome function and organismal phenotypes.
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| 9. |
- Litvak, M.L., et al.
(författare)
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Local variations of bulk hydrogen and chlorine-equivalent neutron absorption content measured at the contact between the Sheepbed and Gillespie Lake units in Yellowknife Bay, Gale Crater, using the DAN instrument onboard Curiosity
- 2014
-
Ingår i: Journal of Geophysical Research - Planets. - 2169-9097 .- 2169-9100. ; 119:6, s. 1259-1275
-
Tidskriftsartikel (refereegranskat)abstract
- Data gathered with the Dynamic Albedo of Neutron (DAN) instrument onboard rover Curiosity were analyzed for variations in subsurface neutron flux and tested for possible correlation with local geological context. A special DAN observation campaign was executed, in which 18 adjacent DAN active measurements were acquired every 0.75–1.0 m to search for the variations of subsurface hydrogen content along a 15 m traverse across geologic contacts between the Sheepbed and Gillespie Lake members of the Yellowknife Bay formation. It was found that several subunits in Sheepbed and Gillespie Lake could be characterized with different depth distributions of water-equivalent hydrogen (WEH) and different chlorine-equivalent abundance responsible for the distribution of neutron absorption elements. The variations of the average WEH at the top 60 cm of the subsurface are estimated at up to 2–3%. Chlorine-equivalent neutron absorption abundances ranged within 0.8–1.5%. The largest difference in WEH and chlorine-equivalent neutron absorption distribution is found between Sheepbed and Gillespie Lake.
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| 10. |
- Aref’eva, I. Ya., et al.
(författare)
-
p-Adic mathematical physics and B. Dragovich research
- 2017
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Ingår i: P-Adic Numbers, Ultrametric Analysis, and Applications. - : Pleiades Publishing. - 2070-0466 .- 2070-0474. ; 9:1, s. 82-85
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Tidskriftsartikel (refereegranskat)abstract
- We present a brief review of some parts of p-adic mathematical physics related to the scientific work of Branko Dragovich on the occasion of his 70th birthday.
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| 11. |
- Lundtoft, Christian, et al.
(författare)
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Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjogren's Syndrome
- 2022
-
Ingår i: Arthritis & Rheumatology. - : Wiley. - 2326-5191 .- 2326-5205. ; 74:11, s. 1842-1850
-
Tidskriftsartikel (refereegranskat)abstract
- Objective Complete genetic deficiency of the complement component C2 is a strong risk factor for monogenic systemic lupus erythematosus (SLE), but whether heterozygous C2 deficiency adds to the risk of SLE or primary Sjogren's syndrome (SS) has not been studied systematically. This study was undertaken to investigate potential associations of heterozygous C2 deficiency and C4 copy number variation with clinical manifestations in patients with SLE and patients with primary SS. Methods The presence of the common 28-bp C2 deletion rs9332736 and C4 copy number variation was examined in Scandinavian patients who had received a diagnosis of SLE (n = 958) or primary SS (n = 911) and in 2,262 healthy controls through the use of DNA sequencing. The concentration of complement proteins in plasma and classical complement function were analyzed in a subgroup of SLE patients. Results Heterozygous C2 deficiency-when present in combination with a low C4A copy number-substantially increased the risk of SLE (odds ratio [OR] 10.2 [95% confidence interval (95% CI) 3.5-37.0]) and the risk of primary SS (OR 13.0 [95% CI 4.5-48.4]) when compared to individuals with 2 C4A copies and normal C2. For patients heterozygous for rs9332736 with 1 C4A copy, the median age at diagnosis was 7 years earlier in patients with SLE and 12 years earlier in patients with primary SS when compared to patients with normal C2. Reduced C2 levels in plasma (P = 2 x 10(-9)) and impaired function of the classical complement pathway (P = 0.03) were detected in SLE patients with heterozygous C2 deficiency. Finally, in a primary SS patient homozygous for C2 deficiency, we observed low levels of anti-Scl-70, which suggests a risk of developing systemic sclerosis or potential overlap between primary SS and other systemic autoimmune diseases. Conclusion We demonstrate that a genetic pattern involving partial deficiencies of C2 and C4A in the classical complement pathway is a strong risk factor for SLE and for primary SS. Our results emphasize the central role of the complement system in the pathogenesis of both SLE and primary SS.
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| 12. |
- Dragovich, B., et al.
(författare)
-
Giorgio Parisi : The Nobel Prize in Physics 2021
- 2022
-
Ingår i: P-Adic Numbers, Ultrametric Analysis, and Applications. - : Pleiades Publishing Inc. - 2070-0466 .- 2070-0474. ; 14:1, s. 81-83
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Giorgio Parisi awarded with the Nobel Prize in Physics 2021 "for the discovery of the interplay of disorder and fluctuations in physical systems from atomic to planetary scales". We are happy to congratulate Professor Parisi with this award and the recognition of his great scientific achievements. G. Parisi is a member of the Editorial Board of this journal - p-Adic Numbers, Ultrametric Analysis and Applications. In this note, we present a brief review of some his remarkable research ideas and related developments, in particular along ultrametric modeling.
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| 13. |
- Dragovich, B., et al.
(författare)
-
On p-adic mathematical physics
- 2009
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Ingår i: P-Adic Numbers, Ultrametric Analysis, and Applications. - Berlin : Springer. - 2070-0466 .- 2070-0474. ; 1:1, s. 1-17
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Forskningsöversikt (refereegranskat)abstract
- A brief review of some selected topics in p-adic mathematical physics is presented.
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| 14. |
- Dragovich, B., et al.
(författare)
-
On the Occasion of the Centenary of the Birth of V. S. Vladimirov (1923-2012)
- 2023
-
Ingår i: P-Adic Numbers, Ultrametric Analysis, and Applications. - : Springer. - 2070-0466 .- 2070-0474. ; 15:3, s. 243-244
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- In this note, on the occasion of the centenary of the birth, we are remembering Vasilii Sergeevich Vladimirov as an outstanding scientist and his contributions to pure and applied mathematics, especiallyp-adic analysis and its applications.
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| 15. |
- Dragovich, B., et al.
(författare)
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p-Adic mathematical physics : the first 30 years
- 2017
-
Ingår i: P-Adic Numbers, Ultrametric Analysis, and Applications. - : Pleiades Publishing. - 2070-0466 .- 2070-0474. ; 9:2, s. 87-121
-
Tidskriftsartikel (refereegranskat)abstract
- p-Adic mathematical physics is a branch of modern mathematical physics based on the application of p-adic mathematical methods in modeling physical and related phenomena. It emerged in 1987 as a result of efforts to find a non-Archimedean approach to the spacetime and string dynamics at the Planck scale, but then was extended to many other areas including biology. This paper contains a brief review of main achievements in some selected topics of p-adic mathematical physics and its applications, especially in the last decade. Attention is mainly paid to developments with promising future prospects.
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| 16. |
- Dragovich, B., et al.
(författare)
-
Vasiliy Sergeevich Vladimirov (09.01.1923 – 03.11.2012)
- 2013
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Ingår i: P-Adic Numbers, Ultrametric Analysis, and Applications. - : Pleiades Publishing. - 2070-0466 .- 2070-0474. ; 5:1, s. 83-86
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- We present a brief biographical review of the scientific work and achievements of Vasiliy Sergeevich Vladimirov on the occasion of his death on November 3, 2012.
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| 17. |
- Kozyrev, A., et al.
(författare)
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A comparative study of LaBr3(Ce3+) and CeBr3 based gamma-ray spectrometers for planetary remote sensing applications
- 2016
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Ingår i: Review of Scientific Instruments. - : AIP Publishing. - 0034-6748 .- 1089-7623. ; 87:8
-
Tidskriftsartikel (refereegranskat)abstract
- The recent availability of large volume cerium bromide crystals raises the possibility of substantially improving gamma-ray spectrometer limiting flux sensitivities over current systems based on the lanthanum tri-halides, e.g., lanthanum bromide and lanthanum chloride, especially for remote sensing, low-level counting applications or any type of measurement characterized by poor signal to noise ratios. The Russian Space Research Institute has developed and manufactured a highly sensitive gamma-ray spectrometer for remote sensing observations of the planet Mercury from the Mercury Polar Orbiter (MPO), which forms part of ESA’s BepiColombo mission. The Flight Model (FM) gamma-ray spectrometer is based on a 3-in. single crystal of LaBr3(Ce3+) produced in a separate crystal development programme specifically for this mission. During the spectrometers development, manufacturing, and qualification phases, large crystals of CeBr3 became available in a subsequent phase of the same crystal development programme. Consequently, the Flight Spare Model (FSM) gamma-ray spectrometer was retrofitted with a 3-in. CeBr3 crystal and qualified for space. Except for the crystals, the two systems are essentially identical. In this paper, we report on a comparative assessment of the two systems, in terms of their respective spectral properties, as well as their suitability for use in planetary mission with respect to radiation tolerance and their propensity for activation. We also contrast their performance with a Ge detector representative of that flown on MESSENGER and show that: (a) both LaBr3(Ce3+) and CeBr3 provide superior detection systems over HPGe in the context of minimally resourced spacecraft and (b) CeBr3 is a more attractive system than LaBr3(Ce3+) in terms of sensitivities at lower gamma fluxes. Based on the tests, the FM has now been replaced by the FSM on the BepiColombo spacecraft. Thus, CeBr3 now forms the central gamma-ray detection element on the MPO spacecraft. Published by AIP Publishing.
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| 18. |
- Kozyrev, S. V., et al.
(författare)
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p-Adic wavelets and their applications
- 2014
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Ingår i: Proceedings of the Steklov Institute of Mathematics. - 0081-5438 .- 1531-8605. ; 285:1, s. 157-196
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Tidskriftsartikel (refereegranskat)abstract
- The theory of p-adic wavelets is presented. One-dimensional and multidimensional wavelet bases and their relation to the spectral theory of pseudodifferential operators are discussed. For the first time, bases of compactly supported eigenvectors for p-adic pseudodifferential operators were considered by V.S. Vladimirov. In contrast to real wavelets, p-adic wavelets are related to the group representation theory; namely, the frames of p-adic wavelets are the orbits of p-adic transformation groups (systems of coherent states). A p-adic multiresolution analysis is considered and is shown to be a particular case of the construction of a p-adic wavelet frame as an orbit of the action of the affine group.
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| 19. |
- Ivansson, Emma L., et al.
(författare)
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Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy
- 2016
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 113:22, s. E3091-E3100
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Tidskriftsartikel (refereegranskat)abstract
- Canine degenerative myelopathy (DM) is a naturally occurring neurodegenerative disease with similarities to some forms of amyotrophic lateral sclerosis (ALS). Most dogs that develop DM are homozygous for a common superoxide dismutase 1 gene (SOD1) mutation. However, not all dogs homozygous for this mutation develop disease. We performed a genome-wide association analysis in the Pembroke Welsh Corgi (PWC) breed comparing DM-affected and -unaffected dogs homozygous for the SOD1 mutation. The analysis revealed a modifier locus on canine chromosome 25. A haplotype within the SP110 nuclear body protein (SP110) was present in 40% of affected compared with 4% of unaffected dogs (P = 1.5 x 10(-5)), and was associated with increased probability of developing DM (P = 4.8 x 10(-6)) and earlier onset of disease (P = 1.7 x 10(-5)). SP110 is a nuclear body protein involved in the regulation of gene transcription. Our findings suggest that variations in SP110-mediated gene transcription may underlie, at least in part, the variability in risk for developing DM among PWCs that are homozygous for the disease-related SOD1 mutation. Further studies are warranted to clarify the effect of this modifier across dog breeds.
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| 20. |
- Khrennikov, Andrei, 1958-, et al.
(författare)
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2-Adic clustering of the PAM matrix
- 2009
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Ingår i: Journal of Theoretical Biology. - : Elsevier BV. - 0022-5193 .- 1095-8541. ; 261:3, s. 396-406
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Tidskriftsartikel (refereegranskat)abstract
- In this paper we demonstrate that the use of the system of 2-adic numbers provides a new insight to some problems of genetics, in particular, degeneracy of the genetic code and the structure of the PAM matrix in bioinformatics. The 2-adic distance is an ultrametric and applications of ultrametric in bioinformatics are not surprising. However, by using the 2-adic numbers we match ultrametric with a number theoretic structure. In this way we find new applications of an ultrametric which differ from known up to now in bioinformatics.We obtain the following results. We show that the PAM matrix A allows the expansion into the sum of the two matrices A=A(2)+A(∞)A=A(2)+A(∞), where the matrix A(2)A(2) is 2-adically regular (i.e. matrix elements of this matrix are close to locally constant with respect to the discussed earlier by the authors 2-adic parametrization of the genetic code), and the matrix A(∞)A(∞) is sparse. We discuss the structure of the matrix A(∞)A(∞) in relation to the side chain properties of the corresponding amino acids.We introduce the family of substitution matrices A(α,β)=αA(2)+βA(∞)A(α,β)=αA(2)+βA(∞), α,β≥0α,β≥0 which should allow to vary the alignment procedure in order to take into account the different chemical and geometric properties of the amino acids.
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| 21. |
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| 22. |
- Khrennikov, Andrei, et al.
(författare)
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Application of p-adic analysis to time series
- 2013
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Ingår i: Infinite Dimensional Analysis Quantum Probability and Related Topics. - 0219-0257. ; 16:4, s. 1350030-
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Tidskriftsartikel (refereegranskat)abstract
- Time series defined by a p-adic pseudo-differential equation is investigated using the expansion of the time series over p-adic wavelets. Quadratic correlation function is computed. This correlation function shows a degree-like behavior and is locally constant for some time periods. It is natural to apply this kind of models for the investigation of avalanche processes and punctuated equilibrium as well as fractal-like analysis of time series generated by measurement of pressure in oil wells.
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| 23. |
- Khrennikov, Andrei, et al.
(författare)
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Contextual quantization and the principle of complementarity of Probabilities
- 2005
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Ingår i: Open systems & information dynamics. - : World Scientific Pub Co Pte Lt. - 1230-1612 .- 1573-1324 .- 1793-7191. ; 12:3, s. 303-318
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Tidskriftsartikel (refereegranskat)abstract
- The contextual probabilistic quantization procedure is formulated. This approach to quantization has much broader field of applications, compared with the canonical quantization. The contextual probabilistic quantization procedure is based on the notions of probability context and the principle of complementarity of probabilities. The general definition of probability context is given. The principle of complementarity of probabilities, which combines the ideas of the Bohr complementarity principle and the technique of noncommutative probability, is introduced. The principle of complementarity of probabilities is the criterion of possibility of the contextual quantization.
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| 24. |
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| 25. |
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| 26. |
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| 27. |
- Löfgren, Sara E, et al.
(författare)
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Genetic association of miRNA-146a with systemic lupus erythematosus in Europeans through decreased expression of the gene
- 2012
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Ingår i: Genes and Immunity. - : Springer Science and Business Media LLC. - 1476-5470 .- 1466-4879. ; 13:3, s. 268-274
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Tidskriftsartikel (refereegranskat)abstract
- A recent genome-wide association study revealed a variant (rs2431697) in an intergenic region, between the pituitary tumor-transforming 1 (PTTG1) and microRNA (miR-146a) genes, associated with systemic lupus erythematosus (SLE) susceptibility. Here, we analyzed with a case-control design this variant and other candidate polymorphisms in this region together with expression analysis in order to clarify to which gene this association is related. The single-nucleotide polymorphisms (SNPs) rs2431697, rs2910164 and rs2277920 were genotyped by TaqMan assays in 1324 SLE patients and 1453 healthy controls of European ancestry. Genetic association was statistically analyzed using Unphased. Gene expression of PTTG1, the miRNAs miR-3142 and primary and mature forms of miR-146a in peripheral blood mononuclear cells (PBMCs) were assessed by quantitative real-time PCR. Of the three variants analyzed, only rs2431697 was genetically associated with SLE in Europeans. Gene expression analysis revealed that this SNP was not associated with PTTG1 expression levels, but with the microRNA-146a, where the risk allele correlates with lower expression of the miRNA. We replicated the genetic association of rs2341697 with SLE in a case-control study in Europeans and demonstrated that the risk allele of this SNP correlates with a downregulation of the miRNA 146a, potentially important in SLE etiology.
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| 28. |
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| 29. |
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| 30. |
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| 31. |
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