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Using an 𝑒+𝑒− collision data sample of 2.93 fb−1 collected at a center-of-mass energy of 3.773 GeV by the BESIII detector at BEPCII, we report the observation of 𝐷0→𝑎0(980)−𝑒+𝜈𝑒 and evidence for 𝐷+→𝑎0(980)0𝑒+𝜈𝑒 with significances of 6.4𝜎 and 2.9𝜎, respectively. The absolute branching fractions are determined to be ℬ(𝐷0→𝑎0(980)−𝑒+𝜈𝑒)×ℬ(𝑎0(980)−→𝜂𝜋−) = [1.33+0.33−0.29(stat)±0.09(syst)]×10−4 and ℬ(𝐷+→𝑎0(980)0𝑒+𝜈𝑒)×ℬ(𝑎0(980)0→𝜂𝜋0)=[1.66+0.81
−0.66(stat)±0.11(syst)]×10−4. This is the first time the 𝑎0(980) meson has been measured in a 𝐷0 semileptonic decay, which would open one more interesting page in the investigation of the nature of the puzzling 𝑎0(980) states.
Using a sample of 4.48×108 ψ(3686) events collected with the BESIII detector at the BEPCII collider, we study the two-photon decays of the pseudoscalar mesons π0, η, η′, η(1405), η(1475), η(1760), and X(1835) in J/ψ radiative decays using ψ(3686)→π+π−J/ψ events. The π0, η and η′ mesons are clearly observed in the two-photon mass spectra, and the branching fractions are determined to be B(J/ψ→γπ0→3γ)=(3.57±0.12±0.16)×10−5, B(J/ψ→γη→3γ)=(4.42±0.04±0.18)×10−4, and B(J/ψ→γη′→3γ)=(1.26±0.02±0.05)×10−4, where the first errors are statistical and the second systematic. No clear signal for η(1405), η(1475), η(1760) or X(1835) is observed in the two-photon mass spectra, and upper limits at the 90% confidence level on the product branching fractions are obtained.
We study the decays of J/ψ and ψ(3686) to the final states Σ(1385)0Σ¯(1385)0 and Ξ0Ξ¯0 based on a single baryon tag method using data samples of (1310.6±7.0)×106 J/ψ and (447.9±2.9)×106 ψ(3686) events collected with the BESIII detector at the BEPCII collider. The decays to Σ(1385)0Σ¯(1385)0 are observed for the first time. The measured branching fractions of J/ψ and ψ(3686)→Ξ0Ξ¯0 are in good agreement with, and much more precise, than the previously published results. The angular parameters for these decays are also measured for the first time. The measured angular decay parameter for J/ψ→Σ(1385)0Σ¯(1385)0, α=−0.64±0.03±0.10, is found to be negative, different to the other decay processes in this measurement. In addition, the "12\% rule" and isospin symmetry in the J/ψ and ψ(3686)→ΞΞ¯ and Σ(1385)Σ¯(1385) systems are tested.
We report the first measurement of the absolute branching fraction for Λ+c→Λμ+νμ. This measurement is based on a sample of e+e− annihilation data at a center-of-mass energy of s√=4.6 GeV collected with the BESIII detector at the BEPCII storage rings. The sample corresponds to an integrated luminosity of 567 pb−1. The branching fraction is determined to be B(Λ+c→Λμ+νμ)=(3.49±0.46(stat)±0.27(syst))%. In addition, we calculate the ratio B(Λ+c→Λμ+νμ)/B(Λ+c→Λe+νe) to be 0.96±0.16(stat)±0.04(syst).
By analyzing 2.93 fb−1 of data taken at the ψ(3770) resonance peak with the BESIII detector, we measure the branching fractions for the hadronic decays D+ → K0S K0S K +, D+ → K0S K0Sπ+, D0 → K0S K0S and D0 → K0S K0S K0S . They are determined to be B(D+ → K0S K0S K +) = (2.54 ± 0.05stat. ± 0.12sys.) × 10−3, B(D+ → K0S K0Sπ+) = (2.70 ± 0.05stat. ± 0.12sys.) × 10−3, B(D0 → K0S K0S ) = (1.67 ± 0.11stat. ± 0.11sys.) × 10−4 and B(D0 → K0S K0S K0S ) = (7.21 ± 0.33stat. ± 0.44sys.) × 10−4, where the second one is measured for the first time and the others are measured with significantly improved precision over the previous measurements.
Using data samples collected with the BESIII detector at the BEPCII collider at six center-of-mass energies between 4.008 and 4.600 GeV, we observe the processes e+e− → φφω and e+e− → φφφ. The Born cross sections are measured and the ratio of the cross sections σ(e+e− → φφω)/σ(e+e− → φφφ) is estimated to be 1.75 ± 0.22 ± 0.19 averaged over six energy points, where the first uncertainty is statistical and the second is systematic. The results represent first measurements of these interactions.
Measurements of cross section of e⁺e⁻ → pp¯π⁰ at center-of-mass energies between 4.008 and 4.600 GeV
(2017)
Based on e+e− annihilation data samples collected with the BESIII detector at the BEPCII collider at 13 center-of-mass energies from 4.008 to 4.600 GeV, measurements of the Born cross section of e+e− → pp¯π0 are performed. No significant resonant structure is observed in the measured energy dependence of the cross section. The upper limit on the Born cross section of e+e− → Y (4260) → pp¯π0 at the 90% C.L. is determined to be 0.01 pb. The upper limit on the ratio of the branching fractions B(Y (4260)→pp¯π0) B(Y (4260)→π+π− J/ψ) at the 90% C.L. is determined to be 0.02%.
The electromagnetic process is studied with the initial-state-radiation technique using 7.5 fb−1 of data collected by the BESIII experiment at seven energy points from 3.773 to 4.600 GeV. The Born cross section and the effective form factor of the proton are measured from the production threshold to 3.0 GeV/ using the invariant-mass spectrum. The ratio of electric and magnetic form factors of the proton is determined from the analysis of the proton-helicity angular distribution.
Using 5.9 pb−1 of e+e− annihilation data collected at center-of-mass energies from 3.640 to 3.701 GeV with the BESIII detector at the BEPCII Collider, we measure the observed cross sections of e+e−→K0SX (where X=anything). From a fit to these observed cross sections with the sum of continuum and ψ(3686) and J/ψ Breit-Wigner functions and considering initial state radiation and the BEPCII beam energy spread, we obtain for the first time the inclusive decay branching fraction B(ψ(3686)→K0SX)=(16.04±0.29±0.90)%, where the first uncertainty is statistical and the second is systematic.
Born cross sections for the processes e+e− → ωη and e+e− → ωπ0 have been determined for centerof-mass energies between 2.00 and 3.08 GeV with the BESIII detector at the BEPCII collider. The results obtained in this work are consistent with previous measurements but with improved precision. Two resonant structures are observed. In the e+e− → ωη cross sections, a resonance with a mass of (2176 ± 24 ± 3) MeV/c2 and a width of (89 ± 50 ± 5) MeV is observed with a significance of 6.2σ. Its properties are consistent with the φ(2170). In the e+e− → ωπ0 cross sections, a resonance denoted Y (2040) is observed with a significance of more than 10σ. Its mass and width are determined to be (2034 ± 13 ± 9) MeV/c2 and (234 ± 30 ± 25) MeV, respectively, where the first uncertainties are statistical and the second ones are systematic.
The Born cross sections of the e+e− → +¯ − and e+e− → −¯ + processes are determined for centerof-mass energy from 2.3864 to 3.0200 GeV with the BESIII detector. The cross section lineshapes can be described properly by a pQCD function and the resulting ratio of effective form factors for the + and − is consistent with 3. In addition, ratios of the + electric and magnetic form factors, |GE /GM |, are obtained at three center-of-mass energies through an analysis of the angular distributions. These measurements, which are studied for the first time in the off-resonance region, provide precision experimental input for understanding baryonic structure. The observed new features of the ± form factors require more theoretical discussions for the hyperons.
Mapping cortical brain asymmetry in 17,141 healthy individuals worldwide via the ENIGMA Consortium
(2017)
Using a data sample of e+e− collision data corresponding to an integrated luminosity of 2.93 fb−1 collected with the BESIII detector at a center-of-mass energy of s=3.773GeV, we search for the singly Cabibbo-suppressed decays D0→π0π0π0, π0π0η, π0ηη and ηηη using the double tag method. The absolute branching fractions are measured to be B(D0→π0π0π0)=(2.0±0.4±0.3)×10−4, B(D0→π0π0η)=(3.8±1.1±0.7)×10−4 and B(D0→π0ηη)=(7.3±1.6±1.5)×10−4 with the statistical significances of 4.8σ, 3.8σ and 5.5σ, respectively, where the first uncertainties are statistical and the second ones systematic. No significant signal of D0→ηηη is found, and the upper limit on its decay branching fraction is set to be B(D0→ηηη)<1.3×10−4 at the 90% confidence level.
Using 16 energy points of e+e− annihilation data collected in the vicinity of the J/ψ resonance with the BESIII detector and with a total integrated luminosity of around 100 pb−1, we study the relative phase between the strong and electromagnetic amplitudes of J/ψ decays. The relative phase between J/ψ electromagnetic decay and the continuum process (e+e− annihilation without the J/ψ resonance) is confirmed to be zero by studying the cross section lineshape of μ+μ− production. The relative phase between J/ψ strong and electromagnetic decays is then measured to be (84.9 ± 3.6)◦ or (−84.7 ± 3.1)◦ for the 2(π+π−)π0 final state by investigating the interference pattern between the J/ψ decay and the continuum process. This is the first measurement of the relative phase between J/ψ strong and electromagnetic decays into a multihadron final state using the lineshape of the production cross section. We also study the production lineshape of the multihadron final state ηπ+π− with η → π+π−π0, which provides additional information about the phase between the J/ψ electromagnetic decay amplitude and the continuum process. Additionally, the branching fraction of J/ψ → 2(π+π−)π0 is measured to be (4.73 ± 0.44)% or (4.85 ± 0.45)%, and the branching fraction of J/ψ → ηπ+π− is measured to be (3.78 ± 0.68) × 10−4. Both of them are consistent with the world average values. The quoted uncertainties include both statistical and systematic uncertainties, which are mainly caused by the low statistics.
We report the first observation of the decay Λ+c→Σ−π+π+π0, based on data obtained in e+e− annihilations with an integrated luminosity of 567~pb−1 at s√=4.6~GeV. The data were collected with the BESIII detector at the BEPCII storage rings. The absolute branching fraction B(Λ+c→Σ−π+π+π0) is determined to be (2.11±0.33(stat.)±0.14(syst.))%. In addition, an improved measurement of B(Λ+c→Σ−π+π+) is determined as (1.81±0.17(stat.)±0.09(syst.))%.
We report the first measurements of absolute branching fractions for the W -exchange-only processes + c → 0K + and + c → (1530)0K + with the double-tag technique, by analyzing an e+e− collision data sample, that corresponds to an integrated luminosity of 567 pb−1 collected at a center-of-mass energy of 4.6 GeV by the BESIII detector. The branching fractions are measured to be B(+c → 0K +) = (5.90 ± 0.86 ± 0.39) × 10−3 and B(+c → (1530)0K +) = (5.02 ± 0.99 ± 0.31) × 10−3, where the first uncertainties are statistical and the second systematic. Our results are more precise than the previous relative measurements.
Using a data sample of 448.1 × 106 ψ(3686) events collected with the BESIII detector at the BEPCII collider, we report the first observation of the electromagnetic Dalitz decay ψ(3686) → η e+e−, with significances of 7.0σ and 6.3σ when reconstructing the η meson via its decay modes η → γπ+π− and η → π+π−η (η → γγ ), respectively. The weighted average branching fraction is determined to be B(ψ(3686) → η e+e−) = (1.90 ± 0.25 ± 0.11) × 10−6, where the first uncertainty is statistical and the second systematic.
Using 448.1 × 106 ψ(3686) decays collected with the BESIII detector at the BEPCII e+e− storage rings, the branching fractions and angular distributions of the decays χcJ → Ξ−Ξ¯¯¯¯+ and Ξ0Ξ¯¯¯¯0 (J = 0, 1, 2) are measured based on a partial-reconstruction technique. The decays χc1 → Ξ0Ξ¯¯¯¯0 and χc2 → Ξ0Ξ¯¯¯¯0 are observed for the first time with statistical significances of 7σ and 15σ, respectively. The results of this analysis are in good agreement with previous measurements and have significantly improved precision.
We report a measurement of the observed cross sections of e+ e− → J/ψX based on 3.21 fb − 1 of data accumulated at energies from 3.645 to 3.891 GeV with the BESIII detector operated at the BEPCII collider. In analysis of the cross sections, we measured the decay branching fractions of B(ψ(3686) → J/ψX) = (64.4 ± 0.6 ± 1.6)% and B(ψ(3770) → J/ψX) = (0.5 ± 0.2 ± 0.1)% for the first time. The energy-dependent line shape of these cross sections cannot be well described by two Breit-Wigner (BW) amplitudes of the expected decays ψ (3686) → J/ψX and ψ(3770) → J/ψX. Instead, it can be better described with one more BW amplitude of the decay R(3760)→ J/ψX. Under this assumption, we extracted the R (3760) mass M R (3760 ) = 3766.2 ± 3.8 ± 0.4 MeV/c2, total width Γ tot R ( 3760 ) = 22.2 ± 5.9 ± 1.4 MeV, and product of leptonic width and decay branching fraction
ΓeeR(3760) B[R(3760) → J/ψX] = (79.4 ± 85.5 ± 11.7) eV. The significance of the R(3760) is 5.3σ. The first uncertainties of these measured quantities are from fits to the cross sections and second systematic.
The process 𝑒+𝑒−→𝜙𝜂′ has been studied for the first time in detail using data sample collected with the BESIII detector at the BEPCII collider at center of mass energies from 2.05 to 3.08 GeV. A resonance with quantum numbers 𝐽𝑃𝐶=1−− is observed with mass 𝑀=(2177.5±4.8(stat)±19.5(syst))MeV/𝑐2 and width Γ=(149.0±15.6(stat)±8.9(syst)) MeV with a statistical significance larger than 10𝜎, including systematic uncertainties. If the observed structure is identified with the 𝜙(2170), then the ratio of partial width between the 𝜙𝜂′ by BESIII and 𝜙𝜂 by BABAR is (ℬ𝑅𝜙𝜂Γ𝑅𝑒𝑒)/(ℬ𝑅𝜙𝜂′Γ𝑅𝑒𝑒)=0.23±0.10(stat)±0.18(syst), which is smaller than the prediction of the 𝑠¯𝑠𝑔 hybrid models by several orders of magnitude.
Search for the reaction channel e⁺e⁻ → ηcηπ⁺π⁻ at center-of-mass energies from 4.23 to 4.60 GeV
(2021)
Using data collected with the BESIII detector operating at the Beijing Electron Positron Collider, we search for the process 𝑒+𝑒−→𝜂𝑐𝜂𝜋+𝜋−. The search is performed using five large datasets recorded at center-of-mass energies of 4.23, 4.26, 4.36, 4.42, and 4.60 GeV. The 𝜂𝑐 meson is reconstructed in 16 exclusive decay modes. No signal is observed in the 𝜂𝑐 mass region at any center-of-mass energy. The upper limits on the reaction cross sections are determined to be 6.2, 10.8, 27.6, 22.6 and 23.7 pb at the 90% confidence level at the center-of-mass energies listed above.
A partial-wave analysis of the decay 𝐽/𝜓→𝐾+𝐾−𝜋0 has been made using (223.7±1.4)×106 𝐽/𝜓 events collected with the BESIII detector in 2009. The analysis, which is performed within the isobar-model approach, reveals contributions from 𝐾*2(1430)±, 𝐾*2(1980)± and 𝐾*4(2045)± decaying to 𝐾±𝜋0. The two latter states are observed in 𝐽/𝜓 decays for the first time. Two resonance signals decaying to 𝐾+𝐾− are also observed. These contributions cannot be reliably identified and their possible interpretations are discussed. The measured branching fraction 𝐵(𝐽/𝜓→𝐾+𝐾−𝜋0) of (2.88±0.01±0.12)×10−3 is more precise than previous results. Branching fractions for the reported contributions are presented as well. The results of the partial-wave analysis differ significantly from those previously obtained by BESII and BABAR.
There has recently been a dramatic renewal of interest in hadron spectroscopy and charm physics. This renaissance has been driven in part by the discovery of a plethora of charmonium-like XYZ states at BESIII and B factories, and the observation of an intriguing proton-antiproton threshold enhancement and the possibly related X(1835) meson state at BESIII, as well as the threshold measurements of charm mesons and charm baryons.
We present a detailed survey of the important topics in tau-charm physics and hadron physics that can be further explored at BESIII during the remaining operation period of BEPCII. This survey will help in the optimization of the data-taking plan over the coming years, and provides physics motivation for the possible upgrade of BEPCII to higher luminosity.
We measure the Born cross sections of the process 𝑒+𝑒−→𝐾+𝐾−𝐾+𝐾− at center-of-mass (c.m.) energies, √𝑠, between 2.100 and 3.080 GeV. The data were collected using the BESIII detector at the BEPCII collider. An enhancement at √𝑠=2.232 GeV is observed, very close to the 𝑒+𝑒−→Λ¯Λ production threshold. A similar enhancement at the same c.m. energy is observed in the 𝑒+𝑒−→𝜙𝐾+𝐾− cross section. The energy dependence of the 𝐾+𝐾−𝐾+𝐾− and 𝜙𝐾+𝐾− cross sections differs significantly from that of 𝑒+𝑒−→𝜙𝜋+𝜋−.
Using 𝑒+𝑒−→Λ+𝑐¯Λ−𝑐 production from a 567 pb−1 data sample collected by BESIII at 4.6 GeV, a full angular analysis is carried out simultaneously on the four decay modes of Λ+𝑐→𝑝𝐾0𝑆, Λ𝜋+, Σ+𝜋0, and Σ0𝜋+. For the first time, the Λ+𝑐 transverse polarization is studied in unpolarized 𝑒+𝑒− collisions, where a nonzero effect is observed with a statistical significance of 2.1𝜎. The decay asymmetry parameters of the Λ+𝑐 weak hadronic decays into 𝑝𝐾0𝑆, Λ𝜋+, Σ+𝜋0 and Σ0𝜋+ are measured to be 0.18±0.43(stat)±0.14(syst), −0.80±0.11(stat)±0.02(syst), −0.57±0.10(stat)±0.07(syst), and −0.73±0.17(stat)±0.07(syst), respectively. In comparison with previous results, the measurements for the Λ𝜋+ and Σ+𝜋0 modes are consistent but with improved precision, while the parameters for the 𝑝𝐾0𝑆 and Σ0𝜋+ modes are measured for the first time.
We study the hadronic decays of Λ+c to the final states Σ+η and Σ+η′, using an e+e− annihilation data sample of 567 pb−1 taken at a center-of-mass energy of 4.6 GeV with the BESIII detector at the BEPCII collider. We find evidence for the decays Λ+c→Σ+η and Σ+η′ with statistical significance of 2.5σ and 3.2σ, respectively. Normalizing to the reference decays Λ+c→Σ+π0 and Σ+ω, we obtain the ratios of the branching fractions B(Λ+c→Σ+η)B(Λ+c→Σ+π0) and B(Λ+c→Σ+η′)B(Λ+c→Σ+ω) to be 0.35±0.16±0.03 and 0.86±0.34±0.07, respectively. The upper limits at the 90\% confidence level are set to be B(Λ+c→Σ+η)B(Λ+c→Σ+π0)<0.58 and B(Λ+c→Σ+η′)B(Λ+c→Σ+ω)<1.2. Using BESIII measurements of the branching fractions of the reference decays, we determine B(Λ+c→Σ+η)=(0.41±0.19±0.05)% (<0.68%) and B(Λ+c→Σ+η′)=(1.34±0.53±0.21)% (<1.9%). Here, the first uncertainties are statistical and the second systematic. The obtained branching fraction of Λ+c→Σ+η is consistent with the previous measurement, and the branching fraction of Λ+c→Σ+η′ is measured for the first time.
Using a 3.19 fb−1 data sample collected at an 𝑒+𝑒− center-of-mass energy of 𝐸cm=4.178 GeV with the BESIII detector, we measure the branching fraction of the leptonic decay 𝐷+𝑠→𝜇+𝜈𝜇 to be ℬ𝐷+𝑠→𝜇+𝜈𝜇=(5.49±0.16stat±0.15syst)×10−3. Combining our branching fraction with the masses of the 𝐷+𝑠 and 𝜇+ and the lifetime of the 𝐷+𝑠, we determine 𝑓𝐷+𝑠|𝑉𝑐𝑠|=246.2±3.6stat±3.5syst MeV. Using the 𝑐→𝑠 quark mixing matrix element |𝑉𝑐𝑠| determined from a global standard model fit, we evaluate the 𝐷+𝑠 decay constant 𝑓𝐷+𝑠=252.9±3.7stat±3.6syst MeV. Alternatively, using the value of 𝑓𝐷+𝑠 calculated by lattice quantum chromodynamics, we find |𝑉𝑐𝑠|=0.985±0.014stat±0.014syst. These values of ℬ𝐷+𝑠→𝜇+𝜈𝜇, 𝑓𝐷+𝑠|𝑉𝑐𝑠|, 𝑓𝐷+𝑠 and |𝑉𝑐𝑠| are each the most precise results to date.
Measurement of branching fractions for D meson decaying into ϕ meson and a pseudoscalar meson
(2019)
The four decay modes D0 → φπ0, D0 → φη, D+ → φπ+, and D+ → φK + are studied by using a data sample taken at the centre-of-mass energy √s = 3.773 GeV with the BESIII detector, corresponding to an integrated luminosity of 2.93 fb−1. The branching fractions of the first three decay modes are measured to be B(D0 → φπ0) = (1.168 ± 0.028 ± 0.028) × 10−3, B(D0 → φη) = (1.81 ± 0.46 ± 0.06) × 10−4, and B(D+ → φπ+) = (5.70 ± 0.05 ± 0.13) × 10−3, respectively, where the first uncertainties are statistical and the second are systematic. In addition, the upper limit of the branching fraction for D+ → φK+ is given to be 2.1 × 10−5 at the 90% confidence level. The ratio of B(D0 → φπ0) to B(D+ → φπ+) is calculated to be (20.49 ± 0.50 ± 0.45)%, which is consistent with the theoretical prediction based on isospin symmetry between these two decay modes.
Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical and genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological overlap remain largely unknown. A recent SCZ genome wide association study (GWAS) by the Psychiatric Genomics Consortium identified 128 independent genome-wide significant single nucleotide polymorphisms (SNPs). The present study investigated whether these SCZ-associated SNPs also contribute to BD development through the performance of association testing in a large BD GWAS dataset (9747 patients, 14278 controls). After re-imputation and correction for sample overlap, 22 of 107 investigated SCZ SNPs showed nominal association with BD. The number of shared SCZ-BD SNPs was significantly higher than expected (p = 1.46x10-8). This provides further evidence that SCZ-associated loci contribute to the development of BD. Two SNPs remained significant after Bonferroni correction. The most strongly associated SNP was located near TRANK1, which is a reported genome-wide significant risk gene for BD. Pathway analyses for all shared SCZ-BD SNPs revealed 25 nominally enriched gene-sets, which showed partial overlap in terms of the underlying genes. The enriched gene-sets included calcium- and glutamate signaling, neuropathic pain signaling in dorsal horn neurons, and calmodulin binding. The present data provide further insights into shared risk loci and disease-associated pathways for BD and SCZ. This may suggest new research directions for the treatment and prevention of these two major psychiatric disorders.
Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts
(2014)
Background: Gene variants known to contribute to Autoimmune Addison's disease (AAD) susceptibility include those at the MHC, MICA, CIITA, CTLA4, PTPN22, CYP27B1, NLRP-1 and CD274 loci. The majority of the genetic component to disease susceptibility has yet to be accounted for.
Aim: To investigate the role of 19 candidate genes in AAD susceptibility in six European case-control cohorts.
Methods: A sequential association study design was employed with genotyping using Sequenom iPlex technology. In phase one, 85 SNPs in 19 genes were genotyped in UK and Norwegian AAD cohorts (691 AAD, 715 controls). In phase two, 21 SNPs in 11 genes were genotyped in German, Swedish, Italian and Polish cohorts (1264 AAD, 1221 controls). In phase three, to explore association of GATA3 polymorphisms with AAD and to determine if this association extended to other autoimmune conditions, 15 SNPs in GATA3 were studied in UK and Norwegian AAD cohorts, 1195 type 1 diabetes patients from Norway, 650 rheumatoid arthritis patients from New Zealand and in 283 UK Graves' disease patients. Meta-analysis was used to compare genotype frequencies between the participating centres, allowing for heterogeneity.
Results: We report significant association with alleles of two STAT4 markers in AAD cohorts (rs4274624: P = 0.00016; rs10931481: P = 0.0007). In addition, nominal association of AAD with alleles at GATA3 was found in 3 patient cohorts and supported by meta-analysis. Association of AAD with CYP27B1 alleles was also confirmed, which replicates previous published data. Finally, nominal association was found at SNPs in both the NF-κB1 and IL23A genes in the UK and Italian cohorts respectively.
Conclusions: Variants in the STAT4 gene, previously associated with other autoimmune conditions, confer susceptibility to AAD. Additionally, we report association of GATA3 variants with AAD: this adds to the recent report of association of GATA3 variants with rheumatoid arthritis.
Bipolar disorder (BD) is a genetically complex mental illness characterized by severe oscillations of mood and behavior. Genome-wide association studies (GWAS) have identified several risk loci that together account for a small portion of the heritability. To identify additional risk loci, we performed a two-stage meta-analysis of >9 million genetic variants in 9,784 bipolar disorder patients and 30,471 controls, the largest GWAS of BD to date. In this study, to increase power we used ~2,000 lithium-treated cases with a long-term diagnosis of BD from the Consortium on Lithium Genetics, excess controls, and analytic methods optimized for markers on the Xchromosome. In addition to four known loci, results revealed genome-wide significant associations at two novel loci: an intergenic region on 9p21.3 (rs12553324, p = 5.87×10-9; odds ratio = 1.12) and markers within ERBB2 (rs2517959, p = 4.53×10-9; odds ratio = 1.13). No significant X-chromosome associations were detected and X-linked markers explained very little BD heritability. The results add to a growing list of common autosomal variants involved in BD and illustrate the power of comparing well-characterized cases to an excess of controls in GWAS.
A wide variety of enzymatic pathways that produce specialized metabolites in bacteria, fungi and plants are known to be encoded in biosynthetic gene clusters. Information about these clusters, pathways and metabolites is currently dispersed throughout the literature, making it difficult to exploit. To facilitate consistent and systematic deposition and retrieval of data on biosynthetic gene clusters, we propose the Minimum Information about a Biosynthetic Gene cluster (MIBiG) data standard.
Major mood disorders, which primarily include bipolar disorder and major depressive disorder, are the leading cause of disability worldwide and pose a major challenge in identifying robust risk genes. Here, we present data from independent large-scale clinical data sets (including 29 557 cases and 32 056 controls) revealing brain expressed protocadherin 17 (PCDH17) as a susceptibility gene for major mood disorders. Single-nucleotide polymorphisms (SNPs) spanning the PCDH17 region are significantly associated with major mood disorders; subjects carrying the risk allele showed impaired cognitive abilities, increased vulnerable personality features, decreased amygdala volume and altered amygdala function as compared with non-carriers. The risk allele predicted higher transcriptional levels of PCDH17 mRNA in postmortem brain samples, which is consistent with increased gene expression in patients with bipolar disorder compared with healthy subjects. Further, overexpression of PCDH17 in primary cortical neurons revealed significantly decreased spine density and abnormal dendritic morphology compared with control groups, which again is consistent with the clinical observations of reduced numbers of dendritic spines in the brains of patients with major mood disorders. Given that synaptic spines are dynamic structures which regulate neuronal plasticity and have crucial roles in myriad brain functions, this study reveals a potential underlying biological mechanism of a novel risk gene for major mood disorders involved in synaptic function and related intermediate phenotypes.