Rare and low-frequency coding variants alter human adult height

Height is a highly heritable, classic polygenic trait with ~700 common associated variants identified so far through genome - wide association studies . Here , we report 83 height - associated coding variants with lower minor allele frequenc ies ( range of 0.1 - 4.8% ) and effects of up to 2 16 cm /allele ( e.g. in IHH , STC2 , AR and CRISPLD2 ) , >10 times the average effect of common variants . In functional follow - up studies, rare height - increasing alleles of STC2 (+1 - 2 cm/allele) compromise d proteolytic inhibition of PAPP - A and increased cleavage of IGFBP - 4 in vitro , resulting in higher bioavailability of insulin - like growth factors . The se 83 height - associated variants overlap genes mutated in monogenic growth disorders and highlight new biological candidates ( e.g. ADAMTS3, IL11RA, NOX4 ) and pathways ( e.g . proteoglycan/ glycosaminoglycan synthesis ) involved in growth . Our results demonstrate that sufficiently large sample sizes can uncover rare and low - frequency variants of moderate to large effect associated with polygenic human phenotypes , and that these variants implicate relevant genes and pathways

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 x 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.Peer reviewe

Impedance tracking control of magnetostrictive transducer based on variable stiffness tuning

A magnetostrictive transducer (MT) is a highly integrated transducer that enables magneto-mechanical energy conversion when outputting actuation motion or force. To ensure high energy efficiency, an impedance tracking control strategy is proposed based on the variable stiffness tuning mechanism. The transducer's internal impedance is controlled to track the change of the load impedance to obtain the impedance matching for different working conditions, and thus increase the energy efficiency. The developed transducer is driven with magnetostrictive material Terfenol-D. By applying proper magnetic field, the material stiffness is able to be changed and the transducer's internal impedance can be controlled to obtain impedance matching. An impedance network model is built to describe the impedance changing of the transducer. A neural network model is developed to describe the variable stiffness mechanism of Terfenol-D. The impedance tracking is then realized with the feedforward compensation of the inverse neural network model and the inverse impedance network model. The influencing factors of impedance matching have been studied. Simulations and experiments have been conducted to verify the energy efficiency comparisons. Verifications show that the MT efficiency demonstrates big differences with and without the impedance control. The lowest efficiency is 10.8%. With the matching control, the efficiency is 24.7%, and this efficiency is 131% increased

Remote Sensing Retrieval of Total Phosphorus in the Pearl River Channels Based on the GF-1 Remote Sensing Data

Total phosphorus (TP) concentration is one of the indicators for surface water quality evaluation. In this study, an indirect algorithm was proposed to retrieve TP concentration. This algorithm retrieves the TP concentration in urban waters based on Gaofen-1 (GF-1) remote sensing data. The algorithm uses the correlation between remote-sensing reflectance, optically significant constituents of water (chlorophyll, suspended sediment, and organic matter (excluding algae)), and TP to establish a retrieval model. First, the concentrations of optically active components are retrieved using a semi-analytical model. Second, the correlation between TP and optically active components is used to retrieve the TP concentration in waters. The GF-1 remote sensing data for 7 August 2015 were used to perform remote sensing retrieval of TP concentration in the Pearl River channels in Guangzhou, China. The results show that the TP concentration in most areas of the Front Channel, Western Channel, Guangzhou Channel, and the western part of the Back Channel was higher than 0.2 mg/L, while the TP concentration in the middle and eastern parts of the Back Channel was generally lower than 0.2 mg/L. The mean absolute percentage error of the retrieval is 24.18%. The experimental results show that the model is suitable for remote sensing retrieval of TP in urban waters in Guangzhou

Remote Sensing Retrieval of Total Nitrogen in the Pearl River Delta Based on Landsat8

The Pearl River Delta in South China is subject to severe eutrophication, which is significantly exacerbated by the total nitrogen (TN). Remote sensing technology with large-scale synchronous observations in the Pearl River Delta can effectively monitor organic pollution. Statistical methods based on remote sensing images have been widely used in water quality parameter retrieval for inland rivers, reservoirs, and lakes, but have seldom been applied in the Pearl River Delta. TN is also a non-optically active substance, so it is difficult to retrieve TN through analysis methods. This study retrieves the concentration of total nitrogen (TN) based on Landsat8 images of the Pearl River Delta using a statistical method. The stepwise regression function is built by analyzing the TN concentration and the single-band, two-band, and three-band spectral information groups measured by an ASD FieldSpec3 spectrometer. The retrieval results show that the proposed method performs well with a small mean absolute error (MAE) (0.36 mg/L for TN) and high agreement (R2 = 0.61 for TN) between the in situ data and the retrieval concentration. The results demonstrate that the concentration of TN in the east of the Pearl River Delta was higher than in the west. Dachan Bay and Shenzhen Bay had the highest TN concentrations, which were around 3.02 mg/L and 3.67 mg/L. The 750–850 nm band could be an important reference for further exploring the spectral characteristics and retrieval of TN. The retrieval method in this study is easy to implement and convenient for local TN distribution capture, which can provide a timely reference for daily water quality supervision and management in the Pearl River Delta

250-m Aerosol Retrieval from FY-3 Satellite in Guangzhou

Aerosol distribution with fine spatial resolution is crucial for atmospheric environmental management. This paper proposes an improved algorithm of aerosol retrieval from 250-m Medium Resolution Spectral Image (MERSI) data of Chinese FY-3 satellites. A mixing model of soil and vegetation was used to calculate the parameters of the algorithm from moderate-resolution imaging spectroradiometer (MODIS) reflectance products in 500-m resolution. The mixing model was used to determine surface reflectance in blue band, and the 250-m aerosol optical depth (AOD) was retrieved through removing surface contributions from MERSI data over Guangzhou. The algorithm was used to monitor two pollution episodes in Guangzhou in 2015, and the results displayed an AOD spatial distribution with 250-m resolution. Compared with the yearly average of MODIS aerosol products in 2015, the 250-m resolution AOD derived from the MERSI data exhibited great potential for identifying air pollution sources. Daily AODs derived from MERSI data were compared with ground results from CE318 measurements. The results revealed a correlation coefficient between the AODs from MERSI and those from the ground measurements of approximately 0.85, and approximately 68% results were within expected error range of ±(0.05 + 15%τ)

Dark-object subtraction atmosphere correction for water body information extraction in Zhuhai-1 hyperspectral imagery

The atmospheric correction of hyperspectral data stands as a fundamental step in quantitative applications, crucial for the accurate analysis of hyperspectral information. Zhuhai-1 hyperspectral data, characterized by its high spatial and spectral resolution, holds substantial potential and advantages for the quantification of water body information. Nonetheless, the adoption of more precise physical models for atmospheric correction often demands extensive satellite and ground environmental parameters, which pose practical challenges in applying physical models The Dark Object Subtraction (DOS), leveraging the intrinsic spectral characteristics of the imagery, offers an efficient alternative for achieving improved atmospheric correction results tailored to the data and study area. In this context, this study presents a Dark Object Subtraction for Water body information extraction (DOSW), specifically designed to advance the quantification of water body information in Zhuhai-1 hyperspectral data. The proposed method is rigorously evaluated by comparing the correction results from the Foshan region and Feilaixia Reservoir with standard and measured spectra of typical objects. The results demonstrate the accuracy of DOSW in atmospheric correction, with correlation coefficients exceeding 0.7 when compared to standard spectra for three representative objects. Notably, DOSW achieves exceptional accuracy in water body correction, achieving a correlation coefficient of 0.95 and an RMSE of 0.002 in the Feilaixia Reservoir, and a correlation coefficient of 0.72 and an RMSE of 0.005 in the Foshan region. Overall, the results underscore the efficacy of DOSW in accurately addressing atmospheric correction challenges to Zhuhai-1 hyperspectral data, effectively meeting the requirements of hyperspectral quantification applications

Rare and low-frequency coding variants alter human adult height

Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of