showing 10 related works from this author
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
2013
Author version made available in accordance with the publisher's policy.
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
2013
Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL (RSPO1, C3orf26, LAMA2, GJD2, ZNRF3, CD55, MIP, and ALPPL2) and confirmed one previously reported AL locus (ZC3H11B). Of the nine loci, five (LAMA2, GJD2, CD55, ALPPL2, and ZC3H11B) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse …
CP symmetries as guiding posts: Revamping tribimaximal mixing. II.
2019
In this follow up of arXiv:1812.04663 we analyze the generalized CP symmetries of the charged lepton mass matrix compatible with the complex version of the Tri-Bi-Maximal (TBM) lepton mixing pattern. These symmetries are used to `revamp' the simplest TBM \textit{Ansatz} in a systematic way. Our generalized patterns share some of the attractive features of the original TBM matrix and are consistent with current oscillation experiments. We also discuss their phenomenological implications both for upcoming neutrino oscillation and neutrinoless double beta decay experiments.
Predictions from warped flavor dynamics based on the T′ family group
2020
We propose a realistic theory of fermion masses and mixings using a five-dimensional warped scenario where all fermions propagate in the bulk and the Higgs field is localized on the IR brane. The assumed $T'$ flavor symmetry is broken on the branes by flavon fields, providing a consistent scenario where fermion mass hierarchies arise from adequate choices of the bulk mass parameters, while quark and lepton mixing angles are restricted by the family symmetry. Neutrino mass splittings, mixing parameters and the Dirac CP phase all arise from the type-I seesaw mechanism and are tightly correlated, leading to predictions for the neutrino oscillation parameters, as well as expected \znbb decay ra…
Classifying CP transformations according to their texture zeros: theory and implications
2016
We provide a classification of generalized CP symmetries preserved by the neutrino mass matrix according to the number of zero entries in the associated transformation matrix. We determine the corresponding constrained form of the lepton mixing matrix, characterized by correlations between the mixing angles and the CP violating phases. We compare with the corresponding restrictions from current neutrino oscillation global fits and show that, in some cases, the Dirac CP phase characterizing oscillations is highly constrained. Implications for current and upcoming long baseline neutrino oscillation experiments T2K, NO$\nu$A and DUNE, as well as neutrinoless double beta decay experiments are d…
Predicting neutrino oscillations with “bi-large” lepton mixing matrices
2019
We propose two schemes for the lepton mixing matrix $U = U_l^\dagger U_\nu$, where $U = U_l$ refers to the charged sector, and $U_\nu$ denotes the neutrino diagonalization matrix. We assume $U_\nu$ to be CP conserving and its three angles to be connected with the Cabibbo angle in a simple manner. CP violation arises solely from the $U_l$, assumed to have the CKM form, $U_l\simeq V_{\rm CKM}$, suggested by unification. Oscillation parameters depend on a single parameter, leading to narrow ranges for the "solar" and "accelerator" angles $\theta_{12}$ and $\theta_{23}$, as well as for the CP phase, predicted as $\delta_{\rm CP}\sim 1.3\pi$.
Generalized mu-tau reflection symmetry and leptonic CP violation
2016
14 pages.- 9 figures
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
2016
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation o…
Realistic Tri-Bi-Maximal neutrino mixing
2018
We propose a generalized version of the Tri-Bi-Maximal (TBM) ansatz for lepton mixing, leading to non-zero reactor angle $\theta_{13}$ and CP violation. The latter is characterized by two CP phases. The Dirac phase affecting neutrino oscillations is nearly maximal ($\delta_{CP} \sim \pm \pi/2$), while the Majorana phase implies narrow allowed ranges for the neutrinoless double beta decay amplitude. The solar angle $\theta_{12}$ lies nearly at its TBM value, while the atmospheric angle $\theta_{23}$ has the TBM value for maximal $\delta_{CP}$. Neutrino oscillation predictions can be tested in present and upcoming experiments.
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive err…
2020
Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects …