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To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia
(2019)
The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.
A catalog of genetic loci associated with kidney function from analyses of a million individuals
(2019)
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
LiCSBAS
(2020)
For the past five years, the 2-satellite Sentinel-1 constellation has provided abundant and useful Synthetic Aperture Radar (SAR) data, which have the potential to reveal global ground surface deformation at high spatial and temporal resolutions. However, for most users, fully exploiting the large amount of associated data is challenging, especially over wide areas. To help address this challenge, we have developed LiCSBAS, an open-source SAR interferometry (InSAR) time series analysis package that integrates with the automated Sentinel-1 InSAR processor (LiCSAR). LiCSBAS utilizes freely available LiCSAR products, and users can save processing time and disk space while obtaining the results of InSAR time series analysis. In the LiCSBAS processing scheme, interferograms with many unwrapping errors are automatically identified by loop closure and removed. Reliable time series and velocities are derived with the aid of masking using several noise indices. The easy implementation of atmospheric corrections to reduce noise is achieved with the Generic Atmospheric Correction Online Service for InSAR (GACOS). Using case studies in southern Tohoku and the Echigo Plain, Japan, we demonstrate that LiCSBAS applied to LiCSAR products can detect both large-scale (>100 km) and localized (~km) relative displacements with an accuracy of <1 cm/epoch and ~2 mm/yr. We detect displacements with different temporal characteristics, including linear, periodic, and episodic, in Niigata, Ojiya, and Sanjo City, respectively. LiCSBAS and LiCSAR products facilitate greater exploitation of globally available and abundant SAR datasets and enhance their applications for scientific research and societal benefit.
High-resolution surface velocities and strain for Anatolia from Sentinel-1 InSAR and GNSS data
(2020)
Measurements of present-day surface deformation are essential for the assessment of long-term seismic hazard. The European Space Agency's Sentinel-1 satellites enable global, high-resolution observation of crustal motion from Interferometric Synthetic Aperture Radar (InSAR). We have developed automated InSAR processing systems that exploit the first similar to 5 years of Sentinel-1 data to measure surface motions for the similar to 800,000-km(2) Anatolian region. Our new 3-D velocity and strain rate fields illuminate deformation patterns dominated by westward motion of Anatolia relative to Eurasia, localized strain accumulation along the North and East Anatolian Faults, and rapid vertical signals associated with anthropogenic activities and to a lesser extent extension across the grabens of western Anatolia. We show that automatically processed Sentinel-1 InSAR data can characterize details of the velocity and strain rate fields with high resolution and accuracy over large regions. These results are important for assessing the relationship between strain accumulation and release in earthquakes. <br /> Plain Language Summary Satellite-based measurements of small rates of motion of the Earth's surface made at high spatial resolutions and over large areas are important for many geophysical applications including improving earthquake hazard models. We take advantage of recent advances in geodetic techniques in order to measure surface velocities and tectonic strain accumulation across the Anatolia region, including the highly seismogenic and often deadly North Anatolian Fault. We show that by combining Sentinel-1 Interferometric Synthetic Aperture Radar (InSAR) data with Global Navigation Satellite System (GNSS) measurements we can enhance our view of surface deformation associated with active tectonics, the earthquake cycle, and anthropogenic processes.
LiCSBAS
(2020)
For the past five years, the 2-satellite Sentinel-1 constellation has provided abundant and useful Synthetic Aperture Radar (SAR) data, which have the potential to reveal global ground surface deformation at high spatial and temporal resolutions. However, for most users, fully exploiting the large amount of associated data is challenging, especially over wide areas. To help address this challenge, we have developed LiCSBAS, an open-source SAR interferometry (InSAR) time series analysis package that integrates with the automated Sentinel-1 InSAR processor (LiCSAR). LiCSBAS utilizes freely available LiCSAR products, and users can save processing time and disk space while obtaining the results of InSAR time series analysis. In the LiCSBAS processing scheme, interferograms with many unwrapping errors are automatically identified by loop closure and removed. Reliable time series and velocities are derived with the aid of masking using several noise indices. The easy implementation of atmospheric corrections to reduce noise is achieved with the Generic Atmospheric Correction Online Service for InSAR (GACOS). Using case studies in southern Tohoku and the Echigo Plain, Japan, we demonstrate that LiCSBAS applied to LiCSAR products can detect both large-scale (>100 km) and localized (similar to km) relative displacements with an accuracy of <1 cm/epoch and similar to 2 mm/yr. We detect displacements with different temporal characteristics, including linear, periodic, and episodic, in Niigata, Ojiya, and Sanjo City, respectively. LiCSBAS and LiCSAR products facilitate greater exploitation of globally available and abundant SAR datasets and enhance their applications for scientific research and societal benefit.