{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T16:28:25Z","timestamp":1754152105418,"version":"3.41.2"},"reference-count":70,"publisher":"Oxford University Press (OUP)","issue":"15","license":[{"start":{"date-parts":[[2025,5,18]],"date-time":"2025-05-18T00:00:00Z","timestamp":1747526400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Shanghai Municipal Science and Technology Major Project","award":["2023SHZDZX02"],"award-info":[{"award-number":["2023SHZDZX02"]}]},{"name":"Science and Technology Innovation 2030 Major Projects","award":["2022ZD0211600"],"award-info":[{"award-number":["2022ZD0211600"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82071201"],"award-info":[{"award-number":["82071201"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Shanghai Municipal Science and Technology Major Project","award":["2018SHZDZX01"],"award-info":[{"award-number":["2018SHZDZX01"]}]},{"name":"Research Start-up Fund of Huashan Hospital","award":["2022QD002"],"award-info":[{"award-number":["2022QD002"]}]},{"name":"Excellence 2025 Talent Cultivation Program at Fudan University","award":["3030277001"],"award-info":[{"award-number":["3030277001"]}]},{"name":"Shanghai Talent Development Funding for The Project","award":["2019074"],"award-info":[{"award-number":["2019074"]}]},{"name":"ZHANGJIANG LAB, Tianqiao and Chrissy Chen Institute"},{"name":"State Key Laboratory of Neurobiology and Frontiers Center for Brain Science of Ministry of Education"},{"DOI":"10.13039\/100020441","name":"Shanghai Center for Brain Science and Brain-Inspired Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020441","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003347","name":"Fudan University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2023YFC3605400"],"award-info":[{"award-number":["2023YFC3605400"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82472055","82071997"],"award-info":[{"award-number":["82472055","82071997"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013314","name":"111 Project","doi-asserted-by":"publisher","award":["B18015"],"award-info":[{"award-number":["B18015"]}],"id":[{"id":"10.13039\/501100013314","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Carpal tunnel syndrome (CTS), a common peripheral nerve entrapment disorder, has a high estimated heritability index. Although previous genome-wide association studies have assessed common genetic components of CTS, the risk contributed by coding variants is still not well understood. Here, we performed the largest exome-wide analyses using UK Biobank data from 350\u2009770 participants to find coding variants associated with CTS. We then explored the relative contribution of both rare mutations and polygenic risk score (PRS) to CTS risk in survival analyses. Finally, we investigated the functional pathways of the CTS-related coding genes identified above. Aside from conforming 6 known CTS genes, 5 novel genes were identified (SPSB1, SYNC, ITGB5, MUC13 and LOXL4). The associations of most genes we identified with incident CTS were striking in survival analyses. Additionally, we provided evidence that combining rare coding alleles and polygenic risk score can improve the genetic prediction of CTS. Functional enrichment analyses revealed potential roles of the identified coding variants in CTS pathogenesis, where they contributed to extracellular matrix organization. Our results evaluated the contribution to CTS etiology from quantities of coding variants accessible to exome sequencing data.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf076","type":"journal-article","created":{"date-parts":[[2025,5,17]],"date-time":"2025-05-17T23:41:27Z","timestamp":1747525287000},"page":"1255-1264","source":"Crossref","is-referenced-by-count":0,"title":["Whole-exome sequencing identifies 5 novel genes associated with carpal tunnel syndrome"],"prefix":"10.1093","volume":"34","author":[{"given":"Zi-Yi","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University , 12th Wulumuqi Zhong Road, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Yu","family":"He","sequence":"additional","affiliation":[{"name":"Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University , 12th Wulumuqi Zhong Road, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bang-Sheng","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University , 12th Wulumuqi Zhong Road, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University , 12th Wulumuqi Zhong Road, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"You","sequence":"additional","affiliation":[{"name":"Institute of Science and Technology for Brain-Inspired Intelligence, Fudan University , 220 Handan Rd., Yangpu District, Shanghai 200433 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Shi","family":"Liu","sequence":"additional","affiliation":[{"name":"Institute of Science and Technology for Brain-Inspired Intelligence, Fudan University , 220 Handan Rd., Yangpu District, Shanghai 200433 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian-Feng","family":"Feng","sequence":"additional","affiliation":[{"name":"Institute of Science and Technology for Brain-Inspired Intelligence, Fudan University , 220 Handan Rd., Yangpu District, Shanghai 200433 ,","place":["China"]},{"name":"Key Laboratory of Computational Neuroscience and Brain-Inspired Intelligence, Fudan University, Ministry of Education , 220 Handan Rd., Yangpu District, Shanghai 200433 ,","place":["China"]},{"name":"Department of Computer Science, University of Warwick , Gibbet Hill Road, Coventry CV4 7AL ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University , 12th Wulumuqi Zhong Road, Shanghai 200040 ,","place":["China"]},{"name":"Institute of Science and Technology for Brain-Inspired Intelligence, Fudan University , 220 Handan Rd., Yangpu District, Shanghai 200433 ,","place":["China"]},{"name":"Key Laboratory of Computational Neuroscience and Brain-Inspired Intelligence, Fudan University, Ministry of Education , 220 Handan Rd., Yangpu District, Shanghai 200433 ,","place":["China"]},{"name":"Department of Computer Science, University of Warwick , Gibbet Hill Road, Coventry CV4 7AL ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin-Tai","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University , 12th Wulumuqi Zhong Road, Shanghai 200040 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,5,18]]},"reference":[{"key":"2025072110122571800_ref1","first-page":"6","article-title":"Carpal tunnel syndrome: an update for the primary care physician","volume":"78","author":"Wright","year":"2019","journal-title":"Hawaii J Health Soc Welf"},{"key":"2025072110122571800_ref2","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/j.math.2012.03.005","article-title":"Description, reliability and validity of a novel method to measure carpal tunnel pressure in patients with carpal tunnel syndrome","volume":"17","author":"Coppieters","year":"2012","journal-title":"Man Ther"},{"key":"2025072110122571800_ref3","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1016\/S1388-2457(02)00169-4","article-title":"Carpal tunnel syndrome: pathophysiology and clinical neurophysiology","volume":"113","author":"Werner","year":"2002","journal-title":"Clin Neurophysiol"},{"key":"2025072110122571800_ref4","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1111\/j.1399-0004.2006.00555.x","article-title":"Familial carpal tunnel syndrome: further evidence for a genetic contribution","volume":"69","author":"Elstner","year":"2006","journal-title":"Clin Genet"},{"key":"2025072110122571800_ref5","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1002\/art.10395","article-title":"The genetic contribution to carpal tunnel syndrome in women: a twin study","volume":"47","author":"Hakim","year":"2002","journal-title":"Arthritis Rheum"},{"key":"2025072110122571800_ref6","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1136\/jmedgenet-2020-107085","article-title":"Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome","volume":"58","author":"Peeters","year":"2021","journal-title":"J Med Genet"},{"key":"2025072110122571800_ref7","doi-asserted-by":"crossref","first-page":"43","DOI":"10.5603\/PJNNS.a2019.0004","article-title":"Familial occurrence of carpal tunnel syndrome","volume":"53","author":"Puchalski","year":"2019","journal-title":"Neurol Neurochir Pol"},{"key":"2025072110122571800_ref8","doi-asserted-by":"crossref","first-page":"46","DOI":"10.3109\/13506129.2015.1126574","article-title":"A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome","volume":"23","author":"Raivio","year":"2016","journal-title":"Amyloid"},{"key":"2025072110122571800_ref9","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1038\/s41467-022-29133-7","article-title":"A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome","volume":"13","author":"Skuladottir","year":"2022","journal-title":"Nat Commun"},{"key":"2025072110122571800_ref10","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1038\/s41467-019-08993-6","article-title":"A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome","volume":"10","author":"Wiberg","year":"2019","journal-title":"Nat Commun"},{"key":"2025072110122571800_ref11","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1038\/nature12825","article-title":"Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease","volume":"505","author":"Cruchaga","year":"2014","journal-title":"Nature"},{"key":"2025072110122571800_ref12","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1038\/s41467-020-14288-y","article-title":"Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts","volume":"11","author":"Cirulli","year":"2020","journal-title":"Nat Commun"},{"key":"2025072110122571800_ref13","doi-asserted-by":"crossref","first-page":"7376","DOI":"10.1038\/s41467-022-35188-3","article-title":"Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma","volume":"13","author":"Gao","year":"2022","journal-title":"Nat Commun"},{"key":"2025072110122571800_ref14","doi-asserted-by":"crossref","DOI":"10.3390\/ijms21176336","article-title":"ApoE Lipidation as a therapeutic target in Alzheimer's disease","volume":"21","author":"Lanfranco","year":"2020","journal-title":"Int J Mol Sci"},{"key":"2025072110122571800_ref15","doi-asserted-by":"crossref","first-page":"14717","DOI":"10.1523\/JNEUROSCI.2053-15.2015","article-title":"microRNA-33 regulates ApoE Lipidation and amyloid-\u03b2 metabolism in the brain","volume":"35","author":"Kim","year":"2015","journal-title":"J Neurosci"},{"key":"2025072110122571800_ref16","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/j.neuron.2008.04.010","article-title":"ApoE promotes the proteolytic degradation of Abeta","volume":"58","author":"Jiang","year":"2008","journal-title":"Neuron"},{"key":"2025072110122571800_ref17","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1086\/321272","article-title":"Are rare variants responsible for susceptibility to complex diseases?","volume":"69","author":"Pritchard","year":"2001","journal-title":"Am J Hum Genet"},{"key":"2025072110122571800_ref18","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1093\/hmg\/11.20.2417","article-title":"The allelic architecture of human disease genes: common disease-common variant...Or not?","volume":"11","author":"Pritchard","year":"2002","journal-title":"Hum Mol Genet"},{"key":"2025072110122571800_ref19","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1086\/513473","article-title":"Most rare missense alleles are deleterious in humans: implications for complex disease and association studies","volume":"80","author":"Kryukov","year":"2007","journal-title":"Am J Hum Genet"},{"key":"2025072110122571800_ref20","doi-asserted-by":"crossref","first-page":"3871","DOI":"10.1073\/pnas.0812824106","article-title":"Power of deep, all-exon resequencing for discovery of human trait genes","volume":"106","author":"Kryukov","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025072110122571800_ref21","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/s41586-019-1231-2","article-title":"Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls","volume":"570","author":"Flannick","year":"2019","journal-title":"Nature"},{"key":"2025072110122571800_ref22","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK biobank resource with deep phenotyping and genomic data","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature"},{"key":"2025072110122571800_ref23","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1038\/s41586-021-04103-z","article-title":"Exome sequencing and analysis of 454,787 UK biobank participants","volume":"599","author":"Backman","year":"2021","journal-title":"Nature"},{"key":"2025072110122571800_ref24","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1038\/s41588-021-00885-0","article-title":"Advancing human genetics research and drug discovery through exome sequencing of the UK biobank","volume":"53","author":"Szustakowski","year":"2021","journal-title":"Nat Genet"},{"key":"2025072110122571800_ref25","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1146\/annurev-genet-102209-163421","article-title":"Rare variant association analysis methods for complex traits","volume":"44","author":"Asimit","year":"2010","journal-title":"Annu Rev Genet"},{"key":"2025072110122571800_ref26","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1177\/1753193415625404","article-title":"Gender differences in carpal tunnel relative cross-sectional area: a possible causative factor in idiopathic carpal tunnel syndrome","volume":"41","author":"Sassi","year":"2016","journal-title":"J Hand Surg Eur"},{"key":"2025072110122571800_ref27","doi-asserted-by":"crossref","first-page":"1384","DOI":"10.1038\/onc.2009.430","article-title":"The ubiquitin-specific protease USP47 is a novel beta-TRCP interactor regulating cell survival","volume":"29","author":"Peschiaroli","year":"2010","journal-title":"Oncogene"},{"key":"2025072110122571800_ref28","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1136\/jnnp.74.12.1674","article-title":"Clinical surveillance of carpal tunnel syndrome in two areas of the United Kingdom, 1991-2001","volume":"74","author":"Bland","year":"2003","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025072110122571800_ref29","doi-asserted-by":"crossref","first-page":"1096385","DOI":"10.1155\/2017\/1096385","article-title":"High circulating levels of ANGPTL2: beyond a clinical marker of systemic inflammation","volume":"2017","author":"Thorin-Trescases","year":"2017","journal-title":"Oxidative Med Cell Longev"},{"key":"2025072110122571800_ref30","doi-asserted-by":"crossref","first-page":"e85542","DOI":"10.1371\/journal.pone.0085542","article-title":"Angiopoietin-like protein 2 induced by mechanical stress accelerates degeneration and hypertrophy of the ligamentum flavum in lumbar spinal canal stenosis","volume":"9","author":"Nakamura","year":"2014","journal-title":"PLoS One"},{"key":"2025072110122571800_ref31","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.kint.2015.12.022","article-title":"Angiopoietin-like protein 2 and kidney fibrosis: lessons from knockout mice","volume":"89","author":"Nishi","year":"2016","journal-title":"Kidney Int"},{"key":"2025072110122571800_ref32","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1186\/s12879-017-2728-7","article-title":"Angiopoietin-like protein as a novel marker for liver fibrosis in chronic hepatitis B patients with normal to minimally raised ALT","volume":"17","author":"Deng","year":"2017","journal-title":"BMC Infect Dis"},{"key":"2025072110122571800_ref33","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.1038\/s41467-019-09718-5","article-title":"Polygenic prediction via Bayesian regression and continuous shrinkage priors","volume":"10","author":"Ge","year":"2019","journal-title":"Nat Commun"},{"key":"2025072110122571800_ref34","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1038\/s41588-021-00997-7","article-title":"Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data","volume":"54","author":"Wainschtein","year":"2022","journal-title":"Nat Genet"},{"key":"2025072110122571800_ref35","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1161\/CIRCRESAHA.119.315686","article-title":"Monogenic and polygenic contributions to atrial fibrillation risk: results from a National Biobank","volume":"126","author":"Choi","year":"2020","journal-title":"Circ Res"},{"key":"2025072110122571800_ref36","first-page":"993","article-title":"Carpal tunnel syndrome: diagnosis and management","volume":"94","author":"Wipperman","year":"2016","journal-title":"Am Fam Physician"},{"key":"2025072110122571800_ref37","doi-asserted-by":"crossref","first-page":"1415","DOI":"10.1038\/s41588-021-00931-x","article-title":"A cross-population atlas of genetic associations for 220 human phenotypes","volume":"53","author":"Sakaue","year":"2021","journal-title":"Nat Genet"},{"key":"2025072110122571800_ref38","doi-asserted-by":"crossref","first-page":"3642","DOI":"10.1038\/s41467-020-17378-z","article-title":"Mutations in COMP cause familial carpal tunnel syndrome","volume":"11","author":"Li","year":"2020","journal-title":"Nat Commun"},{"key":"2025072110122571800_ref39","doi-asserted-by":"crossref","first-page":"17894","DOI":"10.1074\/jbc.M114.607184","article-title":"SPSB1, a novel negative regulator of the transforming growth factor-\u03b2 Signaling pathway targeting the type II receptor","volume":"290","author":"Liu","year":"2015","journal-title":"J Biol Chem"},{"key":"2025072110122571800_ref40","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.cellsig.2004.02.007","article-title":"TGF-beta and TNF-alpha: antagonistic cytokines controlling type I collagen gene expression","volume":"16","author":"Verrecchia","year":"2004","journal-title":"Cell Signal"},{"issue":"Pt 3","key":"2025072110122571800_ref41","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1242\/jcs.108.3.1251","article-title":"Collagen matrices attenuate the collagen-synthetic response of cultured fibroblasts to TGF-beta","volume":"108","author":"Clark","year":"1995","journal-title":"J Cell Sci"},{"key":"2025072110122571800_ref42","doi-asserted-by":"crossref","DOI":"10.3390\/ijms21186636","article-title":"TGF-\u03b2 activity related to the use of collagen membranes: In vitro bioassays","volume":"21","author":"Panahipour","year":"2020","journal-title":"Int J Mol Sci"},{"key":"2025072110122571800_ref43","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1016\/S1286-4579(99)00250-6","article-title":"TGF-beta and fibrosis","volume":"1","author":"Branton","year":"1999","journal-title":"Microbes Infect"},{"key":"2025072110122571800_ref44","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1096\/fj.03-1273rev","article-title":"TGF-beta signaling and the fibrotic response","volume":"18","author":"Leask","year":"2004","journal-title":"FASEB J"},{"key":"2025072110122571800_ref45","doi-asserted-by":"crossref","first-page":"E2048","DOI":"10.1073\/pnas.1415111112","article-title":"Compromised peroxisomes in idiopathic pulmonary fibrosis, a vicious cycle inducing a higher fibrotic response via TGF-\u03b2 signaling","volume":"112","author":"Oruqaj","year":"2015","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025072110122571800_ref46","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/S1050-1738(02)00166-4","article-title":"Intermediate filaments and the function of the dystrophin-protein complex","volume":"12","author":"Blake","year":"2002","journal-title":"Trends Cardiovasc Med"},{"key":"2025072110122571800_ref47","doi-asserted-by":"crossref","first-page":"2957","DOI":"10.1007\/s00018-008-8306-9","article-title":"Syncoilin, an intermediate filament-like protein linked to the dystrophin associated protein complex in skeletal muscle","volume":"65","author":"Moorwood","year":"2008","journal-title":"Cell Mol Life Sci"},{"key":"2025072110122571800_ref48","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1002\/jor.22694","article-title":"TGF-\u03b2 signaling regulates fibrotic expression and activity in carpal tunnel syndrome","volume":"32","author":"Gingery","year":"2014","journal-title":"J Orthop Res"},{"key":"2025072110122571800_ref49","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1158\/1541-7786.MCR-10-0443","article-title":"Mucin 13: structure, function, and potential roles in cancer pathogenesis","volume":"9","author":"Maher","year":"2011","journal-title":"Mol Cancer Res"},{"key":"2025072110122571800_ref50","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1007\/s00726-019-02723-4","article-title":"Clinical significance of LOXL4 expression and features of LOXL4-associated protein-protein interaction network in esophageal squamous cell carcinoma","volume":"51","author":"Xie","year":"2019","journal-title":"Amino Acids"},{"key":"2025072110122571800_ref51","doi-asserted-by":"crossref","first-page":"623","DOI":"10.17219\/acem\/118846","article-title":"The role of genetic factors in carpal tunnel syndrome etiology: a review","volume":"29","author":"\u017byluk","year":"2020","journal-title":"Adv Clin Exp Med"},{"key":"2025072110122571800_ref52","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.gene.2016.04.030","article-title":"Carpal tunnel syndrome: the role of collagen gene variants","volume":"587","author":"Dada","year":"2016","journal-title":"Gene"},{"key":"2025072110122571800_ref53","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"2025072110122571800_ref54","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"2025072110122571800_ref55","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1016\/j.hrthm.2009.04.015","article-title":"Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation","volume":"6","author":"Das","year":"2009","journal-title":"Heart Rhythm"},{"key":"2025072110122571800_ref56","doi-asserted-by":"crossref","first-page":"e1001779","DOI":"10.1371\/journal.pmed.1001779","article-title":"UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age","volume":"12","author":"Sudlow","year":"2015","journal-title":"PLoS Med"},{"key":"2025072110122571800_ref57","doi-asserted-by":"crossref","first-page":"224ed224","DOI":"10.1126\/scitranslmed.3008601","article-title":"UK biobank data: come and get it","volume":"6","author":"Allen","year":"2014","journal-title":"Sci Transl Med"},{"key":"2025072110122571800_ref58","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1038\/s41586-020-2853-0","article-title":"Exome sequencing and characterization of 49,960 individuals in the UK biobank","volume":"586","author":"Van Hout","year":"2020","journal-title":"Nature"},{"key":"2025072110122571800_ref59","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1038\/s41588-021-01011-w","article-title":"Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK biobank","volume":"54","author":"Jurgens","year":"2022","journal-title":"Nat Genet"},{"key":"2025072110122571800_ref60","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"key":"2025072110122571800_ref61","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/nprot.2015.123","article-title":"SIFT missense predictions for genomes","volume":"11","author":"Vaser","year":"2016","journal-title":"Nat Protoc"},{"key":"2025072110122571800_ref62","first-page":"20","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","volume":"76","author":"Adzhubei","year":"2013","journal-title":"Curr Protoc Hum Genet"},{"key":"2025072110122571800_ref63","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1101\/gr.092619.109","article-title":"Identification of deleterious mutations within three human genomes","volume":"19","author":"Chun","year":"2009","journal-title":"Genome Res"},{"key":"2025072110122571800_ref64","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"key":"2025072110122571800_ref65","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogenicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am J Hum Genet"},{"key":"2025072110122571800_ref66","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2014.06.009","article-title":"Rare-variant association analysis: study designs and statistical tests","volume":"95","author":"Lee","year":"2014","journal-title":"Am J Hum Genet"},{"key":"2025072110122571800_ref67","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1038\/s41588-022-01178-w","article-title":"SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests","volume":"54","author":"Zhou","year":"2022","journal-title":"Nat Genet"},{"key":"2025072110122571800_ref68","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"Gigascience"},{"key":"2025072110122571800_ref69","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1038\/s41586-022-05684-z","article-title":"Polygenic architecture of rare coding variation across 394,783 exomes","volume":"614","author":"Weiner","year":"2023","journal-title":"Nature"},{"key":"2025072110122571800_ref70","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1038\/s41467-017-01261-5","article-title":"Functional mapping and annotation of genetic associations with FUMA","volume":"8","author":"Watanabe","year":"2017","journal-title":"Nat Commun"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/34\/15\/1255\/63217535\/ddaf076.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/34\/15\/1255\/63217535\/ddaf076.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T14:12:44Z","timestamp":1753107164000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/34\/15\/1255\/8134308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,18]]},"references-count":70,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2025,5,18]]},"published-print":{"date-parts":[[2025,7,20]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddaf076","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"type":"print","value":"0964-6906"},{"type":"electronic","value":"1460-2083"}],"subject":[],"published-other":{"date-parts":[[2025,8,1]]},"published":{"date-parts":[[2025,5,18]]}}}