Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

Nuclear cataract is the most common type of age-related cataract and a leading cause of blindness worldwide. Age-related nuclear cataract is heritable (h2 = 0.48), but little is known about specific genetic factors underlying this condition. Here we report findings from the largest to date multi-ethnic meta-analysis of genome-wide association studies (discovery cohort N = 14,151 and replication N = 5299) of the International Cataract Genetics Consortium. We confirmed the known genetic association of CRYAA (rs7278468, P = 2.8 × 10−16) with nuclear cataract and identified five new loci associated with this disease: SOX2-OT (rs9842371, P = 1.7 × 1

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

Elevated blood pressure (BP), a leading cause of global morbidity and mortality, is influenced by both genetic and lifestyle factors. Cigarette smoking is one such lifestyle factor. Across five ancestries, we performed a genome-wide gene–smoking interaction study of mean arterial pressure (MAP) and pulse pressure (PP) in 129 913 individuals in stage 1 and follow-up analysis in 480 178 additional individuals in stage 2. We report here 136 loci significantly associated with MAP and/or PP. Of these, 61 were previously published through main-effect analysis of BP traits, 37 were recently reported by us for systolic BP and/or diastolic BP through gene–smoking interaction analysis and 38 were newly identified (P < 5 × 10−8, false discovery rate < 0.05). We also identified nine new signals near known loci. Of the 136 loci, 8 showed significant interaction with smoking status. They include CSMD1 previously reported for insulin resistance and BP in the spontaneously hypertensive rats. Many of the 38 new loci show biologic plausibility for a role in BP regulation. SLC26A7 encodes a chloride/bicarbonate exchanger expressed in the renal outer medullary collecting duct. AVPR1A is widely expressed, including in vascular smooth muscle cells, kidney, myocardium and brain. FHAD1 is a long non-coding RNA overexpressed in heart failure. TMEM51 was associated with contractile function in cardiomyocytes. CASP9 plays a central role in cardiomyocyte apoptosis. Identified only in African ancestry were 30 novel loci. Our findings highlight the value of multi-ancestry investigations, particularly in studies of interaction with lifestyle factors, where genomic and lifestyle differences may contribute to novel findings

“A Legacy of Confusion”: An Exploratory Study of Service Provision under the Reinstated Interim Federal Health Program

Afer years of cuts, Canada’s refugee health-care program, the Interim Federal Health Program (IFHP), was fully restored in 2016. In this exploratory study, eleven semi-structured qualitative interviews were conducted with refugee service providers in the City of Ottawa to learn about their experience with the restored IFHP to date. Five themes emerged from the interviews: service provision challenges during the years of IFHP cuts; support for IFHP restoration; entitlement gaps in the current IFHP; ongoing confusion about the IFHP; and administrative barriers deterring health professionals from IFHP participation. More research is needed to determine whether the identifed challenges with the reinstated IFHP arise on a national scale.Après des années de réductions budgétaires, le programme canadien de soins de santé aux réfugiés, ou Programme fédéral de santé intérimaire (PFSI), a été pleinement réha-bilité en 2016. Dans cette étude exploratoire ont été menés onze entretiens qualitatifs semi-structurés avec des fournisseurs de services aux réfugiés de la Ville d’Ottawa pour ensavoir plus sur l’expérience qu’ils ont à ce jour du PFSI réhabilité. De ces entretiens se sont dégagés cinq thèmes : les défis en matière de fourniture de services au cours des années de réductions budgétaires du PFSI, l’appui à la réhabilitation du PFSI, les lacunes de statut dans le PFSI actuel, la confusion actuelle concernant le PFSI, et les obstacles administratifs décourageant les professionnels de la santé de participer au PFSI. Des travaux de recherche sont encore nécessaires pour établir si les défis qui accompagnent la réhabilitation du PFSI se situent à l’échelle nationale

Energy-band alignments at LaAlO3 and Ge interfaces

10.1063/1.2387986Applied Physics Letters8920-APPL

Effect of nitrogen doping on optical properties and electronic structures of SrTiO3 films

10.1063/1.2403181Applied Physics Letters8923-APPL

Evolution of Fermi level position and Schottky barrier height at Ni/MgO(0 0 1) interface

10.1016/j.susc.2005.10.010Surface Science5991-3255-261SUSC

Board level drop test reliability of IC packages

Proceedings - Electronic Components and Technology Conference1630-636PECC