18 research outputs found

    Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos

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    The cornea is the outermost layer of the eye and is a vital component of focusing incoming light on the retina. Central corneal thickness (CCT) is now recognized to have a significant role in ocular health and is a risk factor for various ocular diseases, such as keratoconus and primary open angle glaucoma. Most previous genetic studies utilized European and Asian subjects to identify genetic loci associated with CCT. Minority populations, such as Latinos, may aid in identifying additional loci and improve our understanding of the genetic architecture of CCT. In this study, we conducted a genome-wide association study (GWAS) in Latinos, a traditionally understudied population in genetic research, to further identify loci contributing to CCT. Study participants were genotyped using either the Illumina OmniExpress BeadChip (~730K markers) or the Illumina Hispanic/SOL BeadChip (~2.5 million markers). All study participants were 40 years of age and older. We assessed the association between individual single nucleotide polymorphisms (SNPs) and CCT using linear regression, adjusting for age, gender and principal components of genetic ancestry. To expand genomic coverage and to interrogate additional SNPs, we imputed SNPs from the 1000 Genomes Project reference panels. We identified a novel SNP, rs10453441 (P=6.01E-09), in an intron of WNT7B that is associated with CCT. Furthermore, WNT7B is expressed in the human cornea. We also replicated 11 previously reported loci, including IBTK, RXRA-COL5A1, COL5A1, FOXO1, LRRK1 and ZNF469 (P < 1.25E-3). These findings provide further insight into the genetic architecture of CCT and illustrate that the use of minority groups in GWAS will help identify additional loci

    Magnesium nebulization utilization in management of pediatric asthma (MagNUM PA) trial: study protocol for a randomized controlled trial

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    Shape coexistence in neutron-deficient Hg-188 investigated via lifetime measurements

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    Shape coexistence in the Z82Z \approx 82 region has been established in mercury, lead and polonium isotopes. Even-even mercury isotopes with 100N106100 \leq N \leq 106 present multiple fingerprints of this phenomenon, which seems to be no longer present for N110N \geq 110. According to a number of theoretical calculations, shape coexistence is predicted in the 188^{188}Hg isotope. The 188^{188}Hg nucleus was populated using two different fusion-evaporation reactions with two targets, 158^{158}Gd and 160^{160}Gd, and a beam of 34^{34}S, provided by the Tandem-ALPI accelerators complex at the Laboratori Nazionali di Legnaro. The channels of interest were selected using the information from the Neutron Wall array, while the γ\gamma rays were detected using the GALILEO γ\gamma-ray array. The lifetimes of the excited states were determined using the Recoil Distance Doppler-Shift method, employing the dedicated GALILEO plunger device. Using the two-bands mixing and rotational models, the deformation of the pure configurations was obtained from the experimental results. The extracted transition strengths were compared with those calculated with the state-of-the-art symmetry-conserving configuration-mixing (SCCM) and five-dimentional collective Hamiltonian (5DCH) approaches in order to shed light on the nature of the observed structures in the 188^{188}Hg nucleus. An oblate, a normal- and a super-deformed prolate bands were predicted and their underlying shell structure was also discussed.Comment: v1: 13 pages, 10 figures, comparison between IBM-CM and SCCM calculations; v2: 16 pages, 13 figures, discussion on the mixing amplitudes from the experimental B(E2) values, comparison between SCCM and 5DCH calculation

    g-factor measurements of isomeric states in (174)w

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    © Owned by the authors, published by EDP Sciences - SIF, 2016. The experimental setup GAMIPE used for gyro magnetic factor measurements at Laboratori Nazionali di Legnaro and a recent experimental work regarding K-isomers in 174 W are described. Aim of the experiment is to study the detailed structure of the isomeric states wave functions, by the measurement of the magnetic dipole moments. This piece of information can provide interesting hints for theoretical models. Preliminary results concerning the population of the isomers of interest and half-lives are presented.status: publishe

    Lifetime measurements in neutron-rich Co-63,Co-65 isotopes using the AGATA demonstrator

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    Lifetimes of the low-lying (11/2-) states in 63,65Co have been measured employing the recoil distance doppler shift method (RDDS) with the AGATA γ-ray array and the PRISMA mass spectrometer. These nuclei were populated via a multinucleon transfer reaction by bombarding a 238U target with a beam of 64Ni. The experimental B(E2) reduced transition probabilities for 63,65Co are well reproduced by large-scale shell-model calculations that predict a constant trend of the B(E2) values up to the N=40 67Co isotop
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