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Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8. When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10−8 threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
We report the first amplitude analysis of the decays D0→π+π−η and D+→π+π0η using a data sample taken with the BESIII detector at the center-of-mass energy of 3.773 GeV, corresponding to an integrated luminosity of 7.9 fb−1. The contribution from the process D0(+)→a0(980)+π−(0) is significantly larger than the D0(+)→a0(980)−(0)π+ contribution. The ratios B(D0→a0(980)+π−)/B(D0→a0(980)−π+) and B(D+→a0(980)+π0)/B(D+→a0(980)0π+) are measured to be 7.5+2.5−0.8stat.±1.7syst. and 2.6±0.6stat.±0.3syst., respectively. The measured D0 ratio disagrees with the theoretical predictions by orders of magnitudes, thus implying a substantial contribution from final-state interactions.
Using data samples with an integrated luminosity of 4.67 fb−1 collected by the BESIII detector operating at the BEPCII collider, we search for the process e+e−→η′ψ(2S) at center-of-mass energies from 4.66 to 4.95 GeV. No significant signal is observed, and upper limits for the Born cross sections σB(e+e−→η′ψ(2S)) at the 90\% confidence level are determined.
Based on (2.712±0.014)×109 ψ(3686) events collected by the BESIII collaboration, evidence of the hadronic decay hc→K0SK+π−+c.c. is found with a significance of 4.3σ in the ψ(3686)→π0hc process. The branching fraction of hc→K0SK+π−+c.c. is measured to be (7.3±0.8±1.8)×10−4, where the first and second uncertainties are statistical and systematic, respectively. Combining with the exclusive decay width of ηc→KK¯π, our result indicates inconsistencies with both pQCD and NRQCD predictions.
Using data samples collected with the BESIII detector operating at the BEPCII storage ring, the cross section of the inclusive process e+e−→η+X, normalized by the total cross section of e+e−→hadrons, is measured at eight center-of-mass energy points from 2.0000 GeV to 3.6710 GeV. These are the first measurements with momentum dependence in this energy region. Our measurement shows a significant discrepancy from calculations with the existing fragmentation functions. To address this discrepancy, a new QCD analysis is performed at the next-to-next-to-leading order with hadron mass corrections and higher twist effects, which can explain both the established high-energy data and our measurements reasonably well.
We measure the Born cross section for the reaction e+e−→ηhc from s√=4.129 to 4.600~GeV using data sets collected by the BESIII detector running at the BEPCII collider. A resonant structure in the cross section line shape near 4.200~GeV is observed with a statistical significance of 7σ. The parameters of this resonance are measured to be \MeasMass\ and \MeasWidth, where the first uncertainties are statistical and the second systematic.
Six C-even states, denoted as X, with quantum numbers JPC=0−+, 1±+, or 2±+, are searched for via the e+e−→γD±sD∗∓s process using (1667.39±8.84) pb−1 of e+e− collision data collected with the BESIII detector operating at the BEPCII storage ring at center-of-mass energy of s√=(4681.92±0.30) MeV. No statistically significant signal is observed in the mass range from 4.08 to 4.32 GeV/c2. The upper limits of σ[e+e−→γX]⋅B[X→D±sD∗∓s] at a 90% confidence level are determined.
Using 2.93 fb−1 of e+e− collision data collected with the BESIII detector at the center-of-mass energy of 3.773 GeV, we investigate the semileptonic decays D+→π+π−ℓ+νℓ (ℓ=e and μ). The D+→f0(500)μ+νμ decay is observed for the first time. By analyzing simultaneously the differential decay rates of D+→f0(500)μ+νμ and D+→f0(500)e+νe in different ℓ+νℓ four-momentum transfer intervals, the product of the relevant hadronic form factor ff0+(0) and the magnitude of the c→d Cabibbo-Kobayashi-Maskawa matrix element |Vcd| is determined to be ff0+(0)|Vcd|=0.0787±0.0060stat±0.0033syst for the first time. With the input of |Vcd| from the global fit in the standard model, we determine ff0+(0)=0.350±0.027stat±0.015syst. The absolute branching fractions of D+→f0(500)(π+π−)μ+νμ and D+→ρ0(π+π−)μ+νμ are determined as (0.72±0.13stat±0.10syst)×10−3 and (1.64±0.13stat±0.11syst)×10−3. Combining these results with those of previous BESIII measurements on their semielectronic counterparts from the same data sample, we test lepton flavor universality by measuring the branching fraction ratios BD+→ρ0μ+νμ/BD+→ρ0e+νe=0.88±0.10 and BD+→f0(500)μ+νμ/BD+→f0(500)e+νe = 1.14±0.28, which are compatible with the standard model expectation.