Association of a single nucleotide polymorphism in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with smoking status and with ‘pleasurable buzz’ during early experimentation with smoking

AimsTo extend the previously identified association between a single nucleotide polymorphism (SNP) in neuronal acetylcholine receptor subunit alpha-5 (CHRNA5) and nicotine dependence to current smoking and initial smoking-experience phenotypes.Design, setting, participantsCase–control association study with a community-based sample, comprising 363 Caucasians and 72 African Americans (203 cases, 232 controls).MeasurementsCases had smoked ≥ five cigarettes/day for ≥ 5 years and had smoked at their current rate for the past 6 months. Controls had smoked between one and 100 cigarettes in their life-time, but never regularly. Participants also rated, retrospectively, pleasurable and displeasurable sensations experienced when they first smoked. We tested for associations between smoking phenotypes and the top 25 SNPs tested for association with nicotine dependence in a previous study.FindingsA non-synonymous coding SNP in CHRNA5, rs16969968, was associated with case status [odds ratio (OR) = 1.5, P = 0.01] and, in Caucasians, with experiencing a pleasurable rush or buzz during the first cigarette (OR = 1.6, P = 0.01); these sensations were associated highly with current smoking (OR = 8.2, P = 0.0001).ConclusionsWe replicated the observation that the minor allele of rs16969968 affects smoking behavior, and extended these findings to sensitivity to smoking effects upon experimentation. While the ability to test genetic associations was limited by sample size, the polymorphism in the CHRNA5 subunit was shown to be associated significantly with enhanced pleasurable responses to initial cigarettes in regular smokers in an a priori test. The findings suggest that phenotypes related to subjective experiences upon smoking experimentation may mediate the development of nicotine dependence

Variant calling in low-coverage whole genome sequencing of a Native American population sample

Abstract Background The reduction in the cost of sequencing a human genome has led to the use of genotype sampling strategies in order to impute and infer the presence of sequence variants that can then be tested for associations with traits of interest. Low-coverage Whole Genome Sequencing (WGS) is a sampling strategy that overcomes some of the deficiencies seen in fixed content SNP array studies. Linkage-disequilibrium (LD) aware variant callers, such as the program Thunder, may provide a calling rate and accuracy that makes a low-coverage sequencing strategy viable. Results We examined the performance of an LD-aware variant calling strategy in a population of 708 low-coverage whole genome sequences from a community sample of Native Americans. We assessed variant calling through a comparison of the sequencing results to genotypes measured in 641 of the same subjects using a fixed content first generation exome array. The comparison was made using the variant calling routines GATK Unified Genotyper program and the LD-aware variant caller Thunder. Thunder was found to improve concordance in a coverage dependent fashion, while correctly calling nearly all of the common variants as well as a high percentage of the rare variants present in the sample. Conclusions Low-coverage WGS is a strategy that appears to collect genetic information intermediate in scope between fixed content genotyping arrays and deep-coverage WGS. Our data suggests that low-coverage WGS is a viable strategy with a greater chance of discovering novel variants and associations than fixed content arrays for large sample association analyses

Search for X(3872) in gamma gamma Fusion and ISR at CLEO

We report on a search for the recently reported X(3872) state using 15.1 fb^{-1} e+ e- data taken in the \sqrt{s} = 9.46-11.30 GeV region. Separate searches for the production of X(3872) in untagged gamma-gamma fusion and e+ e- annihilation following initial state radiation (ISR) are made by taking advantage of the unique correlation of J/psi -> l+ l- in X(3872) decay to pi+ pi- J/psi. No signals are observed in either case, and 90% confidence upper limits are established as (2J+1)\Gamma_{\gamma\gamma}B(X -> pi+ pi- J/psi) < 12.9 eV and \Gamma_{ee}B(X -> pi+ pi- J/psi) < 8.3 eV.Comment: 8 pages postscript,also available through http://www.lns.cornell.edu/public/CLNS/2004/, submitted to PR

Measurement of \cal{B}(D^+ --> mu^+ nu) and the Pseudoscalar Decay Constant fD+f_{D^+}

In 60 pb-1 of data taken on the psi(3770) resonance with the CLEO-c detector, we find 8 D+ to mu+ nu event candidates that are mostly signal, containing only 1 estimated background. Using this statistically compelling sample, we measure preliminary values of B(D+ to mu+ nu) = (3.5 +- 1.4 +- 0.6)*10^{-4}, and determine f_{D+} =(201+- 41+- 17) MeV.Comment: 17 pages postscript, also available through http://www.lns.cornell.edu/public/CONF/2004/, Presented at ICHEP Aug 16-22,2004, Beijing, Chin

New Measurements of Upsilon(1S) Decays to Charmonium Final States

Using substantially larger data samples collected by the CLEO III detector, we report on new measurements of the decays of Upsilon(1S) to charmonium final states, including J/Psi, psi(2S), and chi_cJ. The latter two are first observations of these decays. We measure the branching fractions as follows: B(Y(1S)--> J/Psi+X)=(6.4+-0.4+-0.6)x10^-4, B(Y(1S)--> psi(2S)+X)/B(Y(1S)--> J/Psi+X)=0.41+-0.11+-0.08, B(Y(1S)--> chi_c1+X)/B(Y(1S)--> J/Psi+X)=0.35+-0.08+-0.06, B(Y(1S)--> chi_c2+X)/B(Y(1S)--> J/Psi+X)=0.52+-0.12+-0.09, and B(Y(1S)--> chi_c0+X)/B(Y(1S)--> J/Psi+X)<7.4% at 90% confidence level. We also report on the momentum and angular spectra of J/Psi's in Upsilon(1S) decay. The results are compared to predictions of the color octet and color singlet models.Comment: 27 pages postscript,also available through http://w4.lns.cornell.edu/public/CLNS/, submitted to PR

Measurement of Absolute Hadronic Branching Fractions of D Mesons and e^+e^- --> D barD Cross Sections at E_cm = 3773 MeV

Using 55.8 pb^-1 of e^+e^- collisions recorded at the psi(3770) resonance with the CLEO-c detector at CESR, we determine absolute hadronic branching fractions of charged and neutral D mesons using a double tag technique. Among measurements for three D^0 and six D^+ modes, we obtain reference branching fractions B(D^0 -> K^- pi^+)=(3.91 +- 0.08 +- 0.09)% and B(D^+ -> K^- pi^+ pi^+)=(9.5 +- 0.2 +- 0.3)%, where the uncertainties are statistical and systematic, respectively. Final state radiation is included in these branching fractions by allowing for additional, unobserved, photons in the final state. Using a determination of the integrated luminosity, we also extract the cross sections sigma(e^+e^- -> D^0 \bar D^0)=(3.60 +- 0.07 +0.07-0.05) nb and sigma(e^+e^- -> D^+D^-)=(2.79 +- 0.07 +0.10-0.04) nb.Comment: 9 pages postscript,also available through http://www.lns.cornell.edu/public/CLNS/2005/, submitted to PR

The Search for eta(1440) --> K^0_S K^pm \pi^mp in Two-Photon Fusion at CLEO

We analyze 13.8 \rm fb^{-1} of the integrated e^+e^- luminosity collected at 10.6 GeV center-of-mass energy with the CLEO II and CLEO II.V detectors to study exclusive two-photon production of hadrons with masses below 1.7{\rm \ GeV/c^2} decaying into the K^0_S K^\pm \pi^\mp final state. We observe two statistically significant enhancements in the \eta(1440) mass region. These enhancements have large transverse momentum which rules them out as being due to pseudoscalar resonances but is consistent with the production of axial-vector mesons. We use tagged two-photon events to study the properties of the observed enhancements and associate them with the production of f_1(1285) and f_1(1420). Our non-observation of \eta(1440) is inconsistent by more than two standard deviations with the first observation of this resonance in two-photon collisions by the L3 experiment. We present our estimates for 90% confidence level upper limits on the products of two-photon partial widths of pseudoscalar hadrons and their branching fractions into K^0_S(\pi^+\pi^-)K^\pm\pi^\mp.Comment: 24 pages postscript,also available through http://www.lns.cornell.edu/public/CLNS/2004/, submitted to PR

Study of tau Decays to Four-Hadron Final States with Kaons

The tau decays to four hadrons have been studied with the CLEO III detector at the Cornell Electron Storage Ring (CESR) using (7.56 +- 0.15) fb^{-1} of data collected near the Y(4S) resonance. We present the first statistically significant measurements of B(tau- -> K- pi+pi- pi0 nu, excluding K^0) = (7.4 +- 0.8 +- 1.1) x 10^{-4} and B(tau--> K- K+ pi- pi0 nu) = (5.5 +- 1.4 +- 1.2) x 10^{-5}, including the first observation of the decay, tau- -> K- omega nu, with branching fraction (4.1 +- 0.6 +- 0.7) x 10^{-4}. We also publish the first upper limit for B(tau- -> K- K+ K- pi0 nu) < 4.8 (6.1) x 10^{-6} at 90% (95%) confidence level (C.L.).Comment: 9 pages postscript, also available from http://www.lns.cornell.edu/public/CLNS/2004/, submitted to PR

Limits on Neutral D Mixing in Semileptonic Decays

Using the CLEO II.V detector observing e+e- collisions at around 10.6 GeV we search for neutral D mixing in semileptonic D0 decays tagged in charged D* decays. Combining the results from the Kenu and K*enu channels we find that the rate for D mixing is less than 0.0078 at 90% C.L.Comment: 9 pages postscript,also available through http://www.lns.cornell.edu/public/CLNS/2005/, submitted to PR