Divya Sharma, Neta Gotlieb, Daljeet Chahal, Joseph C. Ahn, Bastian Engel, Richard Taubert, Eunice Tan, Lau Kai Yun, Sara Naimimohasses, Ankit Ray, Yoojin Han, Sara Gehlaut, Maryam Shojaee, Surabie Sivanendran, Maryam Naghibzadeh, Amirhossein Azhie, Sareh Keshavarzi, Kai Duan, Leslie Lilly, Nazia Selzner, Cynthia Tsien, Elmar Jaeckel, Wei Xu, Mamatha Bhat
{"title":"GraftIQ: Hybrid multi-class neural network integrating clinical insight for multi-outcome prediction in liver transplant recipients","authors":"Divya Sharma, Neta Gotlieb, Daljeet Chahal, Joseph C. Ahn, Bastian Engel, Richard Taubert, Eunice Tan, Lau Kai Yun, Sara Naimimohasses, Ankit Ray, Yoojin Han, Sara Gehlaut, Maryam Shojaee, Surabie Sivanendran, Maryam Naghibzadeh, Amirhossein Azhie, Sareh Keshavarzi, Kai Duan, Leslie Lilly, Nazia Selzner, Cynthia Tsien, Elmar Jaeckel, Wei Xu, Mamatha Bhat","doi":"10.1038/s41467-025-59610-8","DOIUrl":"https://doi.org/10.1038/s41467-025-59610-8","url":null,"abstract":"<p>Liver transplant recipients (LTRs) are at risk of graft injury, leading to cirrhosis and reduced survival. Liver biopsy, the diagnostic gold standard, is invasive and risky. We developed a hybrid multi-class neural network (NN) model, ‘GraftIQ,’ integrating clinician expertise for non-invasive graft pathology diagnosis. Biopsies from LTRs (1992–2020) were classified into six categories using demographic, clinical, and lab data from 30 days pre-biopsy. The dataset (5217 biopsies) was split 70/30 for training/testing, with external validation at Mayo Clinic, Hannover Medical School, and NUHS Singapore. Bayesian fusion was used to combine clinician-derived probabilities with NN predictions, improving performance. Here we show that GraftIQ (MulticlassNN+clinical insight) achieved an AUC of 0.902 (95% CI:0.884–0.919), up from 0.885 with NN alone. Internal and external validation demonstrated 10–16% higher AUC than conventional ML models. GraftIQ demonstrates high accuracy in identifying graft etiologies and offers a valuable clinical decision support tool for LTRs.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"36 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144154066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Stable narrowband blue OLEDs by modulating frontier molecular orbital levels","authors":"Xiao-Chun Fan, Xun Tang, Tong-Yuan Zhang, Shintaro Kohata, Jia Yu, Xian-Kai Chen, Kai Wang, Takuji Hatakeyama, Chihaya Adachi, Xiao-Hong Zhang","doi":"10.1038/s41467-025-60172-y","DOIUrl":"https://doi.org/10.1038/s41467-025-60172-y","url":null,"abstract":"<p>Energy level alignment of frontier molecular orbital (FMO) is essential for controlling charge carrier and exciton dynamics in organic light-emitting diodes (OLEDs). However, multiple resonance (MR) emitters with exceptional narrowband luminescence typically suffer from inadequate FMO levels. Herein, a conventional blue MR prototype with a shallow highest occupied molecular orbital (HOMO) level of −5.32 eV is initially employed to reveal the charge carrier and exciton dynamics. Severe hole trapping by its shallow HOMO significantly hinders its transport. More importantly, trapped carriers induce direct exciton formation and recombination at MR emitters in a hyperfluorescent system, leading to triplet accumulation in MR emitters. To resolve these issues, a proof-of-concept wavefunction perturbation strategy is proposed by incorporating cyano motifs at peripheral sites of MR backbone to adjust the energy levels. This approach significantly shifts HOMOs of 0.36 and 0.51 eV without compromising colour purity. The derivative substituting <i>meta</i>-boron position (<i>m</i>CNDB) exhibits a pure-blue emission peaking at 459 nm with a narrow bandwidth of 13 nm. The detrimental carrier trapping effect is eliminated, enhancing external quantum efficiency to exceeding 23%, maintaining around 20% at 1000 cd m<sup>−2</sup>, and improving the device stability.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"134 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144154068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Manu Ahmed, Sydney Fischer, Karyn L. Robert, Karen I. Lange, Michael W. Stuck, Sunayna Best, Colin A. Johnson, Gregory J. Pazour, Oliver E. Blacque, Sumeda Nandadasa
{"title":"Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis","authors":"Manu Ahmed, Sydney Fischer, Karyn L. Robert, Karen I. Lange, Michael W. Stuck, Sunayna Best, Colin A. Johnson, Gregory J. Pazour, Oliver E. Blacque, Sumeda Nandadasa","doi":"10.1038/s41467-025-60294-3","DOIUrl":"https://doi.org/10.1038/s41467-025-60294-3","url":null,"abstract":"<p><i>TMEM67</i> mutations cause Meckel-Gruber syndrome and other related ciliopathies. TMEM67 is involved in both ciliary transition zone assembly, and non-canonical Wnt signaling mediated by its extracellular domain. How TMEM67 performs these two separate functions is not known. We identify a cleavage motif in the extracellular domain of TMEM67 cleaved by the extracellular matrix metalloproteinase ADAMTS9. This cleavage regulates the abundance of two functional forms: a C-terminal portion which localizes to the ciliary transition zone regulating ciliogenesis, and a non-cleaved form which regulates Wnt signaling. By characterizing three <i>TMEM67</i> ciliopathy patient variants within the cleavage motif utilizing mammalian cell culture and <i>C. elegans</i>, we show the cleavage motif is essential for cilia structure and function, highlighting its clinical significance. We generated a non-cleavable TMEM67 mouse model which develop severe ciliopathies phenocopying <i>Tmem67</i><sup>-/-</sup> mice, but in contrast, transduces normal Wnt signaling, substantiating the existence of two functional forms of TMEM67.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"13 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144154278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carmem M. Gilardoni, Simone Eizagirre Barker, Catherine L. Curtin, Stephanie A. Fraser, Oliver. F. J. Powell, Dillon K. Lewis, Xiaoxi Deng, Andrew J. Ramsay, Sonachand Adhikari, Chi Li, Igor Aharonovich, Hark Hoe Tan, Mete Atatüre, Hannah L. Stern
{"title":"A single spin in hexagonal boron nitride for vectorial quantum magnetometry","authors":"Carmem M. Gilardoni, Simone Eizagirre Barker, Catherine L. Curtin, Stephanie A. Fraser, Oliver. F. J. Powell, Dillon K. Lewis, Xiaoxi Deng, Andrew J. Ramsay, Sonachand Adhikari, Chi Li, Igor Aharonovich, Hark Hoe Tan, Mete Atatüre, Hannah L. Stern","doi":"10.1038/s41467-025-59642-0","DOIUrl":"https://doi.org/10.1038/s41467-025-59642-0","url":null,"abstract":"<p>Quantum sensing based on solid-state spin defects provides a uniquely versatile platform for nanoscale magnetometry under diverse environmental conditions. Operation of most sensors used to-date is based on projective measurement along a single axis combined with computational extrapolation. Here, we show that an individually addressable carbon-related spin defect in hexagonal boron nitride is a multi-axis nanoscale sensor with large dynamic range. For this spin-1 system, we demonstrate how its spin-dependent photodynamics give rise to three optically detected spin resonances that show up to 90% contrast and are not quenched under off-axis magnetic field exceeding 100 mT, enabling <span>(mu ,{{rm{T}}}/{{{rm{Hz}}}^{-1/2}})</span> sensitivity. Finally, we show how this system can be used to unambiguously determine the three components of a target magnetic field via the use of two bias fields. Alongside these features, the room-temperature operation and the nanometer-scale proximity enabled by the van der Waals host material further consolidate this system as a promising quantum sensing platform.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"5 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144154324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kai Wing Kevin Tang, Jinmo Jeong, Ju-Chun Hsieh, Mengmeng Yao, Hong Ding, Wenliang Wang, Xiangping Liu, Ilya Pyatnitskiy, Weilong He, William D. Moscoso-Barrera, Anakaren Romero Lozano, Brinkley Artman, Heeyong Huh, Preston S. Wilson, Huiliang Wang
{"title":"Bioadhesive hydrogel-coupled and miniaturized ultrasound transducer system for long-term, wearable neuromodulation","authors":"Kai Wing Kevin Tang, Jinmo Jeong, Ju-Chun Hsieh, Mengmeng Yao, Hong Ding, Wenliang Wang, Xiangping Liu, Ilya Pyatnitskiy, Weilong He, William D. Moscoso-Barrera, Anakaren Romero Lozano, Brinkley Artman, Heeyong Huh, Preston S. Wilson, Huiliang Wang","doi":"10.1038/s41467-025-60181-x","DOIUrl":"https://doi.org/10.1038/s41467-025-60181-x","url":null,"abstract":"<p>Transcranial focused ultrasound is a promising non-invasive method for neuromodulation, particularly for neurodegenerative and psychiatric conditions. However, its use in wearable systems has been limited due to bulky devices and reliance on ultrasound gel, which dehydrates and lacks stable adhesion for long-term use. Here, we present a miniaturized wearable ultrasound device, comparable in size to standard electrophysiological electrodes, integrated with a bioadhesive hydrogel for stable, long-term somatosensory cortical stimulation. Our air-cavity Fresnel lens based self-focusing acoustic transducer was fabricated via a lithography-free microfabrication process, achieving 30.7 W/cm² (1.92 MPa) acoustic intensity and 10 mm focal depth. The hydrogel couplant exhibited less than 13% acoustic attenuation and maintained a stable adhesion force of 0.961 N/cm for 35 days. Using this system, we successfully suppressed somatosensory evoked potentials elicited by functional electrical stimulation over 28 days, demonstrating the device’s potential for long-term, wearable neuromodulation applications.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"19 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144153998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Elastic circular organic microcrystals prepared by photoinduced delamination","authors":"Chengde Ding, Baolei Tang, Liang Li, Panče Naumov, Hongyu Zhang","doi":"10.1038/s41467-025-59670-w","DOIUrl":"https://doi.org/10.1038/s41467-025-59670-w","url":null,"abstract":"<p>Circular organic crystals are essential as optically transducive components in flexible organic optoelectronics, yet this crystal habit is not easily obtained through traditional crystallization approaches. Here, we present a photoresponsive organic crystalline material that when exposed to ultraviolet or visible light, initially undergoes photoinduced bending, followed by photosalient effect and accompanied by delamination to elastic quasicircular microcrystals. Curvature analysis under different conditions confirms the controllability of this process. Light at 365 nm, 405 nm, and 445 nm generates microcrystals with high curvatures (11–12 mm<sup>−1</sup>), while 470 nm light produces lower curvature (5 mm<sup>−1</sup>), aligning with the absorption profile. Increasing the excitation power from 15 mW to 150 mW results in increase of the yield of microcrystals with high curvatures (10–20 mm<sup>−1</sup>) from 20% to 94%. This light-driven fabrication method provides a controlled and reproducible means of realizing rare crystal morphologies, highlighting the potential for exploring quantitative relationships between such morphologies and their unconventional optical properties.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"16 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144154283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Harini Ramalingam, Jesus Alvarez, Andrea Flaten, Patricia Cobo-Stark, Nicholas Foster, Elyse Grilli, Ronak Lakhia, Karam Aboudehen, Thomas Carroll, Vishal Patel
{"title":"An RNA transmethylation pathway governs kidney nephrogenic potential","authors":"Harini Ramalingam, Jesus Alvarez, Andrea Flaten, Patricia Cobo-Stark, Nicholas Foster, Elyse Grilli, Ronak Lakhia, Karam Aboudehen, Thomas Carroll, Vishal Patel","doi":"10.1038/s41467-025-60097-6","DOIUrl":"https://doi.org/10.1038/s41467-025-60097-6","url":null,"abstract":"<p>The adult kidney lacks the ability to generate new nephrons, placing individuals born with low nephron counts at greater risk for chronic kidney disease as they age. Limited nutrient availability hinders nephron formation; however, the key metabolic dependencies remain unclear. Here we show that S-adenosylmethionine (SAM) and cellular transmethylation status are crucial determinants of the kidney’s nephrogenic capacity. The RNA methyltransferase METTL3 serves as a SAM sensor and is essential for the fate determination of nephron progenitor cells (NPCs). Reducing transmethylation or inhibiting METTL3 blocks NPC differentiation and nephrogenesis, whereas enhancing transmethylation or increasing METTL3 activity facilitates an induced NPC population and increases nephron production. Additionally, we identify <i>Lrpprc</i> mRNA, encoding a mitochondrially enriched protein, as a key direct target of METTL3-mediated transmethylation. Accordingly, inhibiting LRPPRC negates the nephrogenic effects of SAM and METTL3. Our findings reveal a modifiable methionine-SAM-RNA transmethylation pathway that can be targeted to enhance nephron formation.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"59 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144154069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hao Liu, Yongqin Tang, Anshu Singh, Joaquim Vong, Julio Cordero, Arthur Mathes, Rui Gao, Yanhan Jia, Boyan K. Garvalov, Till Acker, Gernot Poschet, Rüdiger Hell, Marc A. Schneider, Joerg Heineke, Thomas Wieland, Guillermo Barreto, Adelheid Cerwenka, Michael Potente, Sofia-Iris Bibli, Rajkumar Savai, Gergana Dobreva
{"title":"RNF20 links the DNA damage response and metabolic rewiring in lung cancer through HIF1α","authors":"Hao Liu, Yongqin Tang, Anshu Singh, Joaquim Vong, Julio Cordero, Arthur Mathes, Rui Gao, Yanhan Jia, Boyan K. Garvalov, Till Acker, Gernot Poschet, Rüdiger Hell, Marc A. Schneider, Joerg Heineke, Thomas Wieland, Guillermo Barreto, Adelheid Cerwenka, Michael Potente, Sofia-Iris Bibli, Rajkumar Savai, Gergana Dobreva","doi":"10.1038/s41467-025-60223-4","DOIUrl":"https://doi.org/10.1038/s41467-025-60223-4","url":null,"abstract":"<p>Defective DNA repair and metabolic rewiring are highly intertwined in promoting the development and progression of cancer. However, the molecular players at their interface remain poorly understood. Here we show that an RNF20-HIF1α axis links the DNA damage response and metabolic reprogramming in lung cancer. We demonstrate that RNF20, which catalyzes monoubiquitylation of histone H2B (H2Bub1), controls <i>Rbx1</i> expression and thereby the activity of the VHL ubiquitin ligase complex and HIF1α levels. Ablation of a single <i>Rnf20</i> allele significantly increases the incidence of lung tumors in mice. Mechanistically, <i>Rnf20</i> haploinsufficiency results in inadequate tumor suppression via the Rnf20-H2Bub1-p53 axis and induces DNA damage, cell growth, epithelial-mesenchymal transition (EMT), and metabolic rewiring through HIF1α-mediated RNA polymerase II promoter-proximal pause release, which is independent of H2Bub1. Importantly, decreased RNF20 levels correlate with increased expression of HIF1α and its target genes, suggesting HIF1α inhibition as a promising therapeutic approach for lung cancer patients with reduced RNF20 activity.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"153 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144153995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tim C. Hewitt, Keshav Sharma, Jianping Zhang, Chunhong Chen, Prabin Bajgain, Dhara Bhatt, Smriti Singh, Pablo D. Olivera Firpo, Jun Yang, Qiaoli Wang, Narayana Upadhyaya, Curtis Pozniak, Robert McIntosh, Evans Lagudah, Peng Zhang, Matthew N. Rouse
{"title":"Divergent molecular pathways govern temperature-dependent wheat stem rust resistance genes","authors":"Tim C. Hewitt, Keshav Sharma, Jianping Zhang, Chunhong Chen, Prabin Bajgain, Dhara Bhatt, Smriti Singh, Pablo D. Olivera Firpo, Jun Yang, Qiaoli Wang, Narayana Upadhyaya, Curtis Pozniak, Robert McIntosh, Evans Lagudah, Peng Zhang, Matthew N. Rouse","doi":"10.1038/s41467-025-60030-x","DOIUrl":"https://doi.org/10.1038/s41467-025-60030-x","url":null,"abstract":"<p>The wheat stem rust pathogen <i>Puccinia graminis</i> f. sp. <i>tritici</i> (<i>Pgt</i>) causes severe crop losses worldwide. Several stem rust resistance (<i>Sr</i>) genes exhibit temperature-dependent immune responses. <i>Sr6</i>-mediated resistance is enhanced at lower temperatures, whereas <i>Sr13</i> and <i>Sr21</i> resistances are enhanced at higher temperatures. Here, we clone <i>Sr6</i> using mutagenesis and resistance gene enrichment and sequencing (MutRenSeq), identifying it to encode a nucleotide-binding leucine-rich repeat (NLR) protein with an integrated BED domain. <i>Sr6</i> temperature sensitivity is also transferred to wheat plants transformed with the <i>Sr6</i> gene. Differential gene expression analysis of near-isogenic lines inoculated with <i>Pgt</i> at varying temperatures reveals that genes upregulated in the low-temperature-effective <i>Sr6</i> response differ from those upregulated in the high-temperature-effective responses associated with <i>Sr13</i> and <i>Sr21</i>. These findings highlight divergent molecular pathways involved in temperature-sensitive immunity and inform future strategies for deployment and engineering of genetic resistance in response to a changing climate.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"33 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144153997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yon Ho Jee, Ying Wang, Keum Ji Jung, Ji-Young Lee, Heejin Kimm, Rui Duan, Alkes L. Price, Alicia R. Martin, Peter Kraft
{"title":"Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures","authors":"Yon Ho Jee, Ying Wang, Keum Ji Jung, Ji-Young Lee, Heejin Kimm, Rui Duan, Alkes L. Price, Alicia R. Martin, Peter Kraft","doi":"10.1038/s41467-025-59950-5","DOIUrl":"https://doi.org/10.1038/s41467-025-59950-5","url":null,"abstract":"<p>Genome-wide association studies (GWAS) have predominantly focused on European ancestry populations, limiting biological discoveries across diverse populations. Here we report GWAS findings from 153,950 individuals across 36 quantitative traits in the Korean Cancer Prevention Study-II (KCPS2) Biobank. We discovered 301 previously unreported genetic loci in KCPS2, including an association between thyroid-stimulating hormone and <i>CD36</i>. Meta-analysis with the Korean Genome and Epidemiology Study, Biobank Japan, Taiwan Biobank, and UK Biobank identified 4588 loci that were not significant in any contributing GWAS. We describe differences in genetic architectures across these East Asian and European samples. We also highlight East Asian specific associations, including a known pleiotropic missense variant in <i>ALDH2</i>, which fine-mapping identified as a likely causal variant for multiple traits. Our findings provide insights into the genetic architecture of complex traits in East Asian populations and highlight how broadening the population diversity of GWAS samples can aid discovery.</p>","PeriodicalId":19066,"journal":{"name":"Nature Communications","volume":"39 1","pages":""},"PeriodicalIF":16.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144154279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
