Meta-Analysis of Genome-Wide Linkage Studies in Celiac Disease.

OBJECTIVE: A meta-analysis of genome-wide linkage studies allows us to summarize the extensive information available from family-based studies, as the field moves into genome-wide association studies. METHODS: Here we apply the genome scan meta-analysis (GSMA) method, a rank-based, model-free approach, to combine results across eight independent genome-wide linkages performed on celiac disease (CD), including 554 families with over 1,500 affected individuals. We also investigate the agreement between signals we identified from this meta-analysis of linkage studies and those identified from genome-wide association analysis using a hypergeometric distribution. RESULTS: Not surprisingly, the most significant result was obtained in the HLA region. Outside the HLA region, suggestive evidence for linkage was obtained at the telomeric region of chromosome 10 (10q26.12-qter; p = 0.00366), and on chromosome 8 (8q22.2-q24.21; p = 0.00491). Testing signals of association and linkage within bins showed no significant evidence for co-localization of results. CONCLUSION: This meta-analysis allowed us to pool the results from available genome-wide linkage studies and to identify novel regions potentially harboring predisposing genetic variation contributing to CD. This study also shows that linkage and association studies may identify different types of disease-predisposing variants

Male breast cancer in BRCA1 and BRCA1 mutation carriers: pathology data from the consortium of investigators of Modifiers of BRCA1/2

published_or_final_versio

Separated cross sections in \pi^0 electroproduction at threshold at Q^2 = 0.05 GeV^2/c^2

The differential cross sections \sigma_0=\sigma_T+\epsilon \sigma_L, \sigma_{LT}, and \sigma_{TT} of \pi^0 electroproduction from the proton were measured from threshold up to an additional center of mass energy of 40 MeV, at a value of the photon four-momentum transfer of Q^2= 0.05 GeV^2/c^2 and a center of mass angle of \theta=90^\circ. By an additional out-of-plane measurement with polarized electrons \sigma_{LT'} was determined. This showed for the first time the cusp effect above the \pi^+ threshold in the imaginary part of the s-wave. The predictions of Heavy Baryon Chiral Perturbation Theory are in disagreement with these data. On the other hand, the data are somewhat better predicted by the MAID phenomenological model and are in good agreement with the dynamical model DMT.Comment: 6 pages, 4 figure

Founder populations and their uses for breast cancer genetics

Numerous founder mutations have been reported in BRCA1 and BRCA2. For genetic screening of a population with a founder mutation, testing can be targeted to the mutation, allowing for a more rapid and less expensive test. In addition, more precise estimates of the prior probability of carrying a mutation and of the likelihood of a mutation carrier developing cancer should be possible. For a given founder mutation a large number of carriers are available, so that focused scientific studies of penetrance, expression, and genetic and environmental modifiers of risk can be performed. Finally, founder populations may be a powerful resource to localize additional breast cancer susceptibility loci, because of the reduction in locus heterogeneity

New detectors for the kaon and hypernuclear experiments with KaoS at MAMI and with PANDA at GSI

The KaoS spectrometer at the Mainz Microtron MAMI, Germany, is perceived as the ideal candidate for a dedicated spectrometer in kaon and hypernuclei electroproduction. KaoS will be equipped with new read-out electronics, a completely new focal plane detector package consisting of scintillating fibres, and a new trigger system. First prototypes of the fibre detectors and the associated new front-end electronics are shown in this contribution. The Mainz hypernuclei research program will complement the hypernuclear experiments at the planned FAIR facility at GSI, Germany. At the proposed antiproton storage ring the spectroscopy of double Lambda hypernuclei is one of the four main topics which will be addressed by the PANDA Collaboration. The experiments require the operation of high purity germanium (HPGe) detectors in high magnetic fields (B= 1T) in the presence of a large hadronic background. The performance of high resolution Ge detectors in such an environment has been investigated.Comment: Presentation at International Symposium on the Development of Detectors for Particle, Astroparticle and Synchrotron Radiation Experiments, Stanford, Ca (SNIC06), 6 pages, LaTeX, 11 eps figure

Measurement of the LT-asymmetry in \pi^0 electroproduction at the energy of the \Delta (1232) resonance

The reaction p(e,e'p)pi^0 has been studied at Q^2=0.2 (GeV/c)^2 in the region of W=1232 MeV. From measurements left and right of q, cross section asymmetries \rho_LT have been obtained in forward kinematics \rho_LT(\theta_\pi^0=20deg) = (-11.68 +/- 2.36_stat +/- 2.36_sys)$ and backward kinematics \rho_LT(\theta_\pi^0=160deg) =(12.18 +/- 0.27_stat +/- 0.82_sys). Multipole ratios \Re(S_1+^* M_1+)/|M_1+|^2 and \Re(S_0+^* M_1+)/|M_1+|^2 were determined in the framework of the MAID2003 model. The results are in agreement with older data. The unusally strong negative \Re(S_0+^* M_1+)/|M_1+|^2 required to bring also the result of Kalleicher et al. in accordance with the rest of the data is almost excluded.Comment: 7 pages, 7 figures, 4 tables. Changed content. Accepted for publication in EPJ

Final State Interaction Effects in pol 3He(pol e,e'p)

Asymmetries in quasi-elastic pol 3He(pol e,e'p) have been measured at a momentum transfer of 0.67 (GeV/c)^2 and are compared to a calculation which takes into account relativistic kinematics in the final state and a relativistic one-body current operator. With an exact solution of the Faddeev equation for the 3He-ground state and an approximate treatment of final state interactions in the continuum good agreement is found with the experimental data.Comment: 11 pages, 6 figures, submitted to Phys. Lett. B, revised version, sensitivity study to relativity and NN-potential adde

Coherent \pi^0 threshold production from the deuteron at Q^2 = 0.1 GeV^2/c^2

First data on coherent threshold \pi^0 electroproduction from the deuteron taken by the A1 Collaboration at the Mainz Microtron MAMI are presented. At a four-momentum transfer of q^2=-0.1 GeV^2/c^2 the full solid angle was covered up to a center-of-mass energy of 4 MeV above threshold. By means of a Rosenbluth separation the longitudinal threshold s wave multipole and an upper limit for the transverse threshold s wave multipole could be extracted and compared to predictions of Heavy Baryon Chiral Perturbation Theory.Comment: 7 pages, 7 figures, latex2

Measurements of the \gamma * p --> \Delta(1232) reaction at low Q2

We report new p$(\vec{e},e^\prime p)\pi^\circ$ measurements in the $\Delta^{+}(1232)$ resonance at the low momentum transfer region utilizing the magnetic spectrometers of the A1 Collaboration at MAMI. The mesonic cloud dynamics are predicted to be dominant and appreciably changing in this region while the momentum transfer is sufficiently low to be able to test chiral effective calculations. The results disagree with predictions of constituent quark models and are in reasonable agreement with dynamical calculations with pion cloud effects, chiral effective field theory and lattice calculations. The reported measurements suggest that improvement is required to the theoretical calculations and provide valuable input that will allow their refinements

The first determination of Generalized Polarizabilities of the proton by a Virtual Compton Scattering experiment

Absolute differential cross sections for the reaction (e+p -> e+p+gamma) have been measured at a four-momentum transfer with virtuality Q^2=0.33 GeV^2 and polarization \epsilon = 0.62 in the range 33.6 to 111.5 MeV/c for the momentum of the outgoing photon in the photon-proton center of mass frame. The experiment has been performed with the high resolution spectrometers at the Mainz Microtron MAMI. From the photon angular distributions, two structure functions which are a linear combination of the generalized polarizabilities have been determined for the first time.Comment: 4 pages, 3 figure