The relationship between mobile phone dependence and academic burnout in Chinese college students: a moderated mediator model.

Objective: The aim of this study was to examine the correlation between the level of mobile phone dependence among college students and their experience of academic burnout. Additionally, the study sought to explore the potential mediating effect of study engagement and the moderating role of love. Methods: During October and December 2023, a cross-sectional study measuring mobile phone dependence, academic burnout, and study engagement among Chinese college students, using the UtrechtWork Engagement Scale-student (UWES-S), College Student Mobile Phone Dependence Questionnaire (CSMPDQ), and Academic Burnout Questionnaire (ABQ). To examine the hypothesis of mediating and moderating effect, SPSS PROCESS was utilized. Results: The predictive effect of mobile phone dependence on academic burnout was significant (ß = 0.410, t = 14.236, p < 0.001), and the predictive effect of mobile phone dependence on academic burnout remained significant when the mediating variable study engagement was introduced (ß = 0.308, t = 10.288, p < 0.001), mobile phone dependence had a significant predictive effect on study engagement (ß = -0.292, t = -11.639, p < 0.001), and study engagement had a significant positive predictive effect on academic burnout (ß = -0.270, t = -9.028, p < 0.001). Love significantly negatively predicted study engagement (ß = -0.564, t = -9.641, p < 0.001); and the interaction term for mobile phone dependence and love was significant (ß = -0.211, t = -3.688, p < 0.001), indicating a significant moderating effect of love between mobile phone dependence and study engagement. Conclusion: Mobile phones among college students has been found to have a direct correlation with academic burnout. It can also indirectly contribute to academic burnout by diminishing levels of academic engagement. This indirect relationship is further influenced by love. These findings can help researchers and educators better understand the underlying mechanisms between smartphone dependence and learning burnout in undergraduates.

Bayesian modelling of time series data (BayModTS)-a FAIR workflow to process sparse and highly variable data.

MOTIVATION: Systems biology aims to better understand living systems through mathematical modelling of experimental and clinical data. A pervasive challenge in quantitative dynamical modelling is the integration of time series measurements, which often have high variability and low sampling resolution. Approaches are required to utilize such information while consistently handling uncertainties. RESULTS: We present BayModTS (Bayesian modelling of time series data), a new FAIR (findable, accessible, interoperable, and reusable) workflow for processing and analysing sparse and highly variable time series data. BayModTS consistently transfers uncertainties from data to model predictions, including process knowledge via parameterized models. Further, credible differences in the dynamics of different conditions can be identified by filtering noise. To demonstrate the power and versatility of BayModTS, we applied it to three hepatic datasets gathered from three different species and with different measurement techniques: (i) blood perfusion measurements by magnetic resonance imaging in rat livers after portal vein ligation, (ii) pharmacokinetic time series of different drugs in normal and steatotic mice, and (iii) CT-based volumetric assessment of human liver remnants after clinical liver resection. AVAILABILITY AND IMPLEMENTATION: The BayModTS codebase is available on GitHub at https://github.com/Systems-Theory-in-Systems-Biology/BayModTS. The repository contains a Python script for the executable BayModTS workflow and a widely applicable SBML (systems biology markup language) model for retarded transient functions. In addition, all examples from the paper are included in the repository. Data and code of the application examples are stored on DaRUS: https://doi.org/10.18419/darus-3876. The raw MRI ROI voxel data were uploaded to DaRUS: https://doi.org/10.18419/darus-3878. The steatosis metabolite data are published on FairdomHub: 10.15490/fairdomhub.1.study.1070.1.

Ionic Liquids Microenvironment Modulates the Interface Properties of g-C3 N4 for Boosting the Performance of Photodegradation and Infected Wound-Healing Therapy.

The improvement of photocatalytic activity of g-C3 N4 is expected for its advanced applications but remains a challenge due to the limitations of current strategies, such as single function, inefficiency, and uneconomical. Herein, a modified g-C3 N4 with improved interface properties is constructed through the modulation of the ionic microenvironment affected by ionic liquids (ILs) and exhibits a 2.3-fold enhanced photodegradation efficiency and a 3.5-fold enhanced reaction rate relative to pristine g-C3 N4 . It has demonstrated excellent performance in photo-therapy bacterial-infected wounds. Theoretical calculation indicated that the precursor can be regulated by designing the specific ILs microenvironment to form "ILs-Mel" clusters due to the diversity of interaction energy and electrostatic potential. The cluster results in uneven stress on the 2D plane, further inducing the reconstruction of the microstructure. The synergistic effect of cations and anions of ILs on regulating the interface properties of g-C3 N4 due to the change of skeleton structure during thermolysis of ILs. The microstructure, surface, and optical-electrical properties can be adjusted by selecting different cations of ILs, and the custom-made band structure and wettability can be obtained by selecting different anions. This work provides a facile strategy to modulate the interface properties of g-C3 N4 by building specific a microenvironment of precursor.

Improving Electrocatalytic Oxygen Evolution through Local Field Distortion in Mg/Fe Dual-site Catalysts.

Transition metal single atom electrocatalysts (SACs) with metal-nitrogen-carbon (M-N-C) configuration show great potential in oxygen evolution reaction (OER), whereby the spin-dependent electrons must be allowed to transfer along reactants (OH- /H2 O, singlet spin state) and products (O2 , triplet spin state). Therefore, it is imperative to modulate the spin configuration in M-N-C to enhance the spin-sensitive OER energetics, which however remains a significant challenge. Herein, we report a local field distortion induced intermediate to low spin transition by introducing a main-group element (Mg) into the Fe-N-C architecture, and decode the underlying origin of the enhanced OER activity. We unveil that, the large ionic radii mismatch between Mg2+ and Fe2+ can cause a FeN4 in-plane square local field deformation, which triggers a favorable spin transition of Fe2+ from intermediate (dxy 2 dxz 2 dyz 1 dz2 1 , 2.96 µB ) to low spin (dxy 2 dxz 2 dyz 2 , 0.95 µB ), and consequently regulate the thermodyna-mics of the elementary step with desired Gibbs free energies. The as-obtained Mg/Fe dual-site catalyst demonstrates a superior OER activity with an overpotential of 224 mV at 10 mA cm-2 and an electrolysis voltage of only 1.542 V at 10 mA cm-2 in the overall water splitting, which outperforms those of the state-of-the-art transition metal SACs.

Structure engineering of CeO2 for boosting the Au/CeO2 nanocatalyst in the green and selective hydrogenation of nitrobenzene.

Exploring eco-friendly and cost-effective strategies for structure engineering at the nanoscale is important for boosting heterogeneous catalysis but still under a long-standing challenge. Herein, multifunctional polyphenol tannic acid, a low-cost natural biomass containing catechol and galloyl species, was employed as a green reducing agent, chelating agent, and stabilizer to prepare Au nanoparticles, which were dispersed on different-shaped CeO2 supports (e.g., rod, flower, cube, and octahedral). Systematic characterizations revealed that Au/CeO2-rod had the highest oxygen vacancy density and Ce(III) proportion, favoring the dispersion and stabilization of the metal active sites. Using isopropanol as a hydrogen-transfer reagent, deep insights into the structure-activity relationship of the Au/CeO2 catalysts with various morphologies of CeO2 in the catalytic nitrobenzene transfer hydrogenation reaction were gained. Notably, the catalytic performance followed the order: Au/CeO2-rod (110), (100), (111) > Au/CeO2-flower (100), (111) > Au/CeO2-cube (100) > Au/CeO2-octa (111). Au/CeO2-rod displayed the highest conversion of 100% nitrobenzene and excellent stability under optimal conditions. Moreover, DFT calculations indicated that nitrobenzene molecules had a suitable adsorption energy and better isopropanol dehydrogenation capacity on the Au/CeO2 (110) surface. A reaction pathway and the synergistic catalytic mechanism for catalytic nitrobenzene transfer hydrogenation are proposed based on the results. This work demonstrates that CeO2 structure engineering is an efficient strategy for fabricating advanced and environmentally benign materials for nitrobenzene hydrogenation.

Perfusion and T2 Relaxation Time as Predictors of Severity and Outcome in Sepsis-Associated Acute Kidney Injury: A Preclinical MRI Study.

BACKGROUND: Preventing sepsis-associated acute kidney injury (S-AKI) can be challenging because it develops rapidly and is often asymptomatic. Probability assessment of disease progression for therapeutic follow-up and outcome are important to intervene and prevent further damage. PURPOSE: To establish a noninvasive multiparametric MRI (mpMRI) tool, including T1 , T2 , and perfusion mapping, for probability assessment of the outcome of S-AKI. STUDY TYPE: Preclinical randomized prospective study. ANIMAL MODEL: One hundred and forty adult female SD rats (65 control and 75 sepsis). FIELD STRENGTH/SEQUENCE: 9.4T; T1 and perfusion map (FAIR-EPI) and T2 map (multiecho RARE). ASSESSMENT: Experiment 1: To identify renal injury in relation to sepsis severity, serum creatinine levels were determined (31 control and 35 sepsis). Experiment 2: Animals underwent mpMRI (T1 , T2 , perfusion) 18 hours postsepsis. A subgroup of animals was immediately sacrificed for histology examination (nine control and seven sepsis). Result of mpMRI in follow-up subgroup (25 control and 33 sepsis) was used to predict survival outcomes at 96 hours. STATISTICAL TESTS: Mann-Whitney U test, Spearman/Pearson correlation (r), P < 0.05 was considered statistically significant. RESULTS: Severely ill septic animals exhibited significantly increased serum creatinine levels compared to controls (70 ± 30 vs. 34 ± 9 µmol/L, P < 0.0001). Cortical perfusion (480 ± 80 vs. 330 ± 140 mL/100 g tissue/min, P < 0.005), and cortical and medullary T2 relaxation time constants were significantly reduced compared to controls (41 ± 4 vs. 37 ± 5 msec in cortex, P < 0.05, 52 ± 7 vs. 45 ± 6 msec in medulla, P < 0.05). The combination of cortical T2 relaxation time constants and perfusion results at 18 hours could predict survival outcomes at 96 hours with high sensitivity (80%) and specificity (73%) (area under curve of ROC = 0.8, Jmax = 0.52). DATA CONCLUSION: This preclinical study suggests combined T2 relaxation time and perfusion mapping as first line diagnostic tool for treatment planning. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY STAGE: 2.

Progress in 'taxonomic sufficiency' in aquatic biological investigations.

The 'taxonomic sufficiency' (TS) approach has been applied to algae, protists, invertebrates, and vertebrates, generally by aggregating species-level abundance data to a higher taxonomic level, where genus-level data are often highly correlated with species-level data and are a valid proxy level. The TS approach offers the possibility of a comparison of data from different geographical areas and highlights the effects of contaminants. The TS approach is stable in the face of different researchers and in the comparison of long-term biological survey data. The effectiveness of the TS approach may increase with increasing environmental gradients or spatial area. The TS approach should be avoided when the spatial area is small and small differences in species-level data are considered important, so as not to cancel out the distribution patterns specific to the local environment of the biological taxa.

Characteristics of zooplankton community structure and its relationship with environmental factors in the South Yellow Sea.

A total of 91 species of zooplankton were sampled from the South Yellow Sea in the summer and autumn of 2019. Copepods were the predominant arthropods. The summer sample (81) contained higher species diversity than the autumn (70). In both seasons, Calanus sinicus, Sagitta enflata, S. crassa, Doliolum denticulatum, and Macrura larva were dominant species. The average abundance of zooplankton in summer and autumn was 424.9 and 52.6 ind./m3, respectively, and the biomass was 207.7 and 107.6 mg/m3, respectively. The Shannon-Wiener index (H') in summer was higher than that in autumn, while the Pielou index (J') and Margalef index (D') were lower than those in autumn. BIOENV showed that water temperature (ST), dissolved oxygen (DO), turbidity (Tur), and tetrabromobisphenol A (TBBPA) affected the zooplankton community structure in the South Yellow Sea. The concentration of TBBPA increased from offshore to nearshore, with a significant negative impact on diversity in summer.

2D FeOCl: A Highly In-Plane Anisotropic Antiferromagnetic Semiconductor Synthesized via Temperature-Oscillation Chemical Vapor Transport.

2D van der Waals (vdW) transition-metal oxyhalides with low symmetry, novel magnetism, and good stability provide a versatile platform for conducting fundamental research and developing spintronics. Antiferromagnetic FeOCl has attracted significant interest owing to its unique semiconductor properties and relatively high Néel temperature. Herein, good-quality centimeter-scale FeOCl single crystals are controllably synthesized using the universal temperature-oscillation chemical vapor transport (TO-CVT) method. The crystal structure, bandgap, and anisotropic behavior of the 2D FeOCl are explored in detail. The absorption spectrum and electrical measurements reveal that 2D FeOCl is a semiconductor with an optical bandgap of ≈2.1 eV and a resistivity of ≈10-1  Ω m at 295 K, and the bandgap increases with decreasing thickness. Strong in-plane optical and electrical anisotropies are observed in 2D FeOCl flakes, and the maximum resistance anisotropic ratio reaches 2.66 at 295 K. Additionally, the lattice vibration modes are studied through temperature-dependent Raman spectra and first-principles density functional calculations. A significant decrease in the Raman frequencies below the Néel temperature is observed, which results from the strong spin-phonon coupling effect in 2D FeOCl. This study provides a high-quality low-symmetry vdW magnetic candidate for miniaturized spintronics.

Insight into the Morphology-Dependent Catalytic Performance of CuO/CeO2 Produced by Tannic Acid for Efficient Hydrogenation of 4-Nitrophenol.

The construction of a heterogeneous nanocatalyst with outstanding catalytic performance via an environmentally benign and cost-effective synthetic category has long been one of the challenges in nanotechnology. Herein, we synthesized highly efficient and low-cost mesoporous morphology-dependent CuO/CeO2 -Rods and CuO/CeO2 -Cubes catalysts by employing a green and multifunctional polyphenolic compound (tannic acid) as the stabilizer and chelating agent for 4-nitrophenol (4-NP) reduction reaction. The CuO/CeO2 -Rods exhibited excellent performance, of which the activity was 3.2 times higher than that of CuO/CeO2 -Cubes. This can be connected with the higher density of oxygen vacancy on CeO2 -Rods (110) than CeO2 -Cubes (100), the oxygen vacancy favors anchoring CuO species on the CeO2 support, which promotes the strong interaction between finely dispersed CuO and CeO2 -Rods at the interfacial positions and facilitates the electron transfer from BH4 - to 4-NP. The synergistic catalytic mechanism illustrated that 4-NP molecules preferentially adsorbed on the CeO2 , while H2 from BH4 - dissociated over CuO to form highly active H* species, contributing to achieving efficient hydrogenation of 4-NP. This study is expected to shed light on designing and synthesizing cost-effective and high-performance nanocatalysts through a greener synthetic method for the areas of catalysis, nanomaterial science and engineering, and chemical synthesis.

COVID-19-related mobility reduction: heterogenous effects on sleep and physical activity rhythms.

STUDY OBJECTIVES: Mobility restrictions imposed to suppress transmission of COVID-19 can alter physical activity (PA) and sleep patterns that are important for health and well-being. Characterization of response heterogeneity and their underlying associations may assist in stratifying the health impact of the pandemic. METHODS: We obtained wearable data covering baseline, incremental mobility restriction, and lockdown periods from 1,824 city-dwelling, working adults aged 21-40 years, incorporating 206,381 nights of sleep and 334,038 days of PA. Distinct rest-activity rhythm (RAR) profiles were identified using k-means clustering, indicating participants' temporal distribution of step counts over the day. Hierarchical clustering of the proportion of days spent in each of these RAR profiles revealed four groups who expressed different mixtures of RAR profiles before and during the lockdown. RESULTS: Time in bed increased by 20 min during the lockdown without loss of sleep efficiency, while social jetlag measures decreased by 15 min. Resting heart rate declined by ~2 bpm. PA dropped an average of 42%. Four groups with different compositions of RAR profiles were found. Three were better able to maintain PA and weekday/weekend differentiation during lockdown. The least active group comprising ~51% of the sample, were younger and predominantly singles. Habitually less active already, this group showed the greatest reduction in PA during lockdown with little weekday/weekend differences. CONCLUSION: In the early aftermath of COVID-19 mobility restriction, PA appears to be more severely affected than sleep. RAR evaluation uncovered heterogeneity of responses to lockdown that could associate with different outcomes should the resolution of COVID-19 be protracted.

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 × 10-19), TMPRSS5 (rs4936279, P = 2.5 × 10-10), LINC01412 (rs16823886, P = 1.3 × 10-9), GLTSCR1 (rs1005911, P = 9.8 × 10-9), and COMMD1 (rs62149908, P = 1.2 × 10-8). The results suggest a strong link of age-related nuclear cataract with congenital cataract and eye development genes, and the importance of common genetic variants in maintaining crystalline lens integrity in the aging eye.

Genome-Wide Association Study in Asians Identifies Novel Loci for High Myopia and Highlights a Nervous System Role in Its Pathogenesis.

PURPOSE: To identify novel susceptibility loci for high myopia. DESIGN: Genome-wide association study (GWAS) followed by replication and meta-analysis. PARTICIPANTS: A total of 14 096 samples from East and Southeast Asian populations (2549 patients with high myopia and 11 547 healthy controls). METHODS: We performed a GWAS in 3269 Japanese individuals (1668 with high myopia and 1601 control participants), followed by replication analysis in a total of 10 827 additional samples (881 with high myopia and 9946 control participants) from Japan, Singapore, and Taiwan. To confirm the biological role of the identified loci in the pathogenesis of high myopia, we performed functional annotation and Gene Ontology (GO) analyses. MAIN OUTCOME MEASURES: We evaluated the association of single nucleotide polymorphisms with high myopia and GO terms enriched among genes identified in the current study. RESULTS: We identified 9 loci with genome-wide significance (P < 5.0 × 10-8). Three loci were previously reported myopia-related loci (ZC3H11B on 1q41, GJD2 on 15q14, and RASGRF1 on 15q25.1), and the other 6 were novel (HIVEP3 on 1p34.2, NFASC/CNTN2 on 1q32.1, CNTN4/CNTN6 on 3p26.3, FRMD4B on 3p14.1, LINC02418 on 12q24.33, and AKAP13 on 15q25.3). The GO analysis revealed a significant role of the nervous system related to synaptic signaling, neuronal development, and Ras/Rho signaling in the pathogenesis of high myopia. CONCLUSIONS: The current study identified 6 novel loci associated with high myopia and demonstrated an important role of the nervous system in the disease pathogenesis. Our findings give new insight into the genetic factors underlying myopia, including high myopia, by connecting previous findings and allowing for a clarified interpretation of the cause and pathophysiologic features of myopia at the molecular level.

A sensitive optical-based test method for the locomotor activity of earthworms.

The outdated test methodologies for terrestrial animals have limited the progress of soil ecotoxicology to some extent. To improve the behavioral testing of earthworms, a terrestrial model animal, a sensitive optical-based method for detecting locomotor activity was established. The method measured the fine quantified position offsets of each earthworm in place of a conventional overall response rate, which provided the feasibility for accurate analyses and comparisons. By setting appropriate thresholds, the time proportions of medium and burst states (mid-burdur%) could be an optimized endpoint with an ideal balance in output stability and sensitivity. In addition, we chose the head-end, which is the most flexible part of the earthworm, other than whole body to further elevate the sensitivity in indicating the changed traits. Using octopamine, serotonin, and a serial-dose of lindane exposure, the practice credibility of the test method was validated. Our developed locomotor test method overcame the innate characteristics of the earthworm, and was expected to provide a powerful phenotypic tool for ecological and ecotoxicological studies using earthworms and similar invertebrates.

A Green, Rapid and Efficient Dual-Sensors for Highly Selective and Sensitive Detection of Cation (Hg2+) and Anion (S2-) Ions Based on CMS/AgNPs Composites.

Detection of mercury (Hg2+) and sulfide (S2-), universal and well-known toxic ions, is crucial in monitoring several diseases. How to design and fabricate the high-performance sensor for simultaneously and accurately detecting the Hg2+ and S2- is critical. Herein, we proposed a novel and convenient strategy for optical detection of Hg2+ and S2- by employing a carboxymethyl cellulose sodium/silver nanoparticle (CMS/AgNPs) colloidal solution, in which AgNPs were used as monitor for Hg2+ and S2-, and the CMS was utilized as both the stabilizer and the hydrophilic substrate for AgNPs. Well-identifiable peaks for Hg2+ and S2- were obtained in water based on UV-VIS absorption spectra, the absorbance intensity and/or position of nano-silver vary with the addition of Hg2+ cation and S2- anion, accompanying with color change. Impressively, the optimal AgNPs anchored CMS exhibited a high sensitivity and selectivity toward Hg2+ and S2-, the change in absorbance was linear with the concentration of Hg2+ (0-50 µM) and S2- (15-70 µM), and the lowest limits of detection (LOD) were 1.8 × 10-8 M and 2.4 × 10-7 M, respectively. More importantly, owing to the superior properties in testing Hg2+ and S2-, the fabricated sensor was successfully applied for detection of target ions in lake and tap water samples. All these good results implied that the designed strategy and as-designed samples is promising in detecting cation (Hg2+) and anion (S2-) ions and open up new opportunities for selecting other kinds of ions.

Correction: Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

[This corrects the article DOI: 10.1371/journal.pone.0220143.].

A genome-wide association study identifies genetic loci associated with specific lobar brain volumes.

Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes.

Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.

PURPOSE: To evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM). METHODS: A candidate gene approach tested 50 myopia-associated loci for association with HM and MMD, using meta-analyses of case-control studies comprising subjects of European and Asian ancestry aged 30 to 80 years from 10 studies. Fifty loci with the strongest associations with myopia were chosen from a previous published GWAS study. Highly myopic (spherical equivalent [SE] ≤ -5.0 diopters [D]) cases with MMD (N = 348), and two sets of controls were enrolled: (1) the first set included 16,275 emmetropes (SE ≤ -0.5 D); and (2) second set included 898 highly myopic subjects (SE ≤ -5.0 D) without MMD. MMD was classified based on the International photographic classification for pathologic myopia (META-PM). RESULTS: In the first analysis, comprising highly myopic cases with MMD (N = 348) versus emmetropic controls without MMD (N = 16,275), two SNPs were significantly associated with high myopia in adults with HM and MMD: (1) rs10824518 (P = 6.20E-07) in KCNMA1, which is highly expressed in human retinal and scleral tissues; and (2) rs524952 (P = 2.32E-16) near GJD2. In the second analysis, comprising highly myopic cases with MMD (N = 348) versus highly myopic controls without MMD (N = 898), none of the SNPs studied reached Bonferroni-corrected significance. CONCLUSIONS: Of the 50 myopia-associated loci, we did not find any variant specifically associated with MMD, but the KCNMA1 and GJD2 loci were significantly associated with HM in highly myopic subjects with MMD, compared to emmetropes.

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

Blood pressure (BP) is a major risk factor for cardiovascular disease and more than 200 genetic loci associated with BP are known. Here, we perform a multi-stage genome-wide association study for BP (max N = 289,038) principally in East Asians and meta-analysis in East Asians and Europeans. We report 19 new genetic loci and ancestry-specific BP variants, conforming to a common ancestry-specific variant association model. At 10 unique loci, distinct non-rare ancestry-specific variants colocalize within the same linkage disequilibrium block despite the significantly discordant effects for the proxy shared variants between the ethnic groups. The genome-wide transethnic correlation of causal-variant effect-sizes is 0.898 and 0.851 for systolic and diastolic BP, respectively. Some of the ancestry-specific association signals are also influenced by a selective sweep. Our results provide new evidence for the role of common ancestry-specific variants and natural selection in ethnic differences in complex traits such as BP.

Aldose Reductase Polymorphisms, Fasting Blood Glucose, and Age-Related Cortical Cataract.

Purpose: To determine whether there is an association between polymorphisms of the AKR1B1 gene and cortical cataract in the presence of hyperglycemia. Methods: In the second cross section of the Blue Mountains Eye Study (BMES), 3508 participants (2334 at 5-year follow-up and 1174 newly recruited participants) were examined during 1997 to 2000. Cataract was graded from lens photographs using the Wisconsin Cataract Grading System. Fasting blood glucose (FBG) was measured. Continuous imputed dosages of minor alleles of 17 AKR1B1 single nucleotide polymorphisms (SNPs) were assessed for associations with prevalent cortical cataract. Gene-environment interactions between SNPs and FBG were examined. Odds ratios (OR) and 95% confidence intervals (CI) for prevalent cortical cataract were estimated using logistic regression adjusting for age, sex, smoking, hypertension, education, and myopia. A P value of 0.005 was considered statistically significant after correction for 10 independent tests. Replication of significant associations found in the BMES sample was conducted in the Singapore Epidemiology of Eye Diseases (SEED) study (n = 10,033). Results: No polymorphism was associated with prevalent cortical cataract. A significant interaction was observed between rs9640883 and FBG (Pinteraction = 0.004), with increased cortical cataract prevalence associated with rs9640883 minor allele dosage in those with FBG >6.0 mM (strata-specific OR 1.72, 95% CI 1.09-2.72). No similar association was found in participants with normal FBG (OR 0.85, 95% CI 0.69-1.04). This interaction was not evident in the SEED study. Conclusions: The identified interaction between rs9640883 and FBG in relation to cortical cataract was not replicated but may warrant further investigation.