{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T01:24:21Z","timestamp":1774229061615,"version":"3.50.1"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T00:00:00Z","timestamp":1727395200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Platelets act as a crucial indicator for monitoring hypercoagulability and thrombosis and a key target for pharmacological intervention. Genotype\u2013phenotype association studies have confirmed that platelet traits are quantitatively regulated by multiple genes. However, there is currently a lack of genetic studies on the heterogeneity of platelet traits in \u03b2-thalassemia under a hypercoagulable state. Here, we studied the phenotypic heterogeneity of platelet count (PLT) and mean platelet volume (MPV) in a cohort of 1020 \u03b2-thalassemia patients. We further performed a functionally informed whole-genome sequencing (WGS) association analysis of common variants and rare variants for PLT and MPV in 916 patients through integrative analysis of WGS data and functional annotation data. Extreme phenotypic heterogeneity of platelet traits was observed in \u03b2-thalassemia patients. Additionally, the common variant-based gene-level analysis identified RNF144B as a novel gene associated with MPV. The rare variant analysis identified several novel associations in both coding and noncoding regions, including missense rare variants of PPP2R5C associated with PLT and missense\u00a0rare variants of TSSK1B associated with MPV. In conclusion, this comprehensive and systematic whole-genome scan of platelet traits in the \u03b2-thalassemia cohort reveals the specific genetic regulation of platelet traits in the context of \u03b2-thalassemia, providing potential targets for intervention.<\/jats:p>","DOI":"10.1093\/gpbjnl\/qzae065","type":"journal-article","created":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T13:24:56Z","timestamp":1727443496000},"source":"Crossref","is-referenced-by-count":3,"title":["Whole-genome Sequencing Association Analysis of Quantitative Platelet Traits in A Large Cohort of \u03b2-thalassemia"],"prefix":"10.1093","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0839-5647","authenticated-orcid":false,"given":"Xingmin","family":"Wang","sequence":"first","affiliation":[{"name":"Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University , Guangzhou 510515,","place":["China"]},{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University , Guangzhou 510515,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1624-036X","authenticated-orcid":false,"given":"Qianqian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University , Guangzhou 510515,","place":["China"]},{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University , Guangzhou 510515,","place":["China"]},{"name":"Dongguan Maternal and Child Health Care Hospital, Postdoctoral Innovation Practice Base of Southern Medical University , Dongguan 523001,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2151-2328","authenticated-orcid":false,"given":"Xianming","family":"Chen","sequence":"additional","affiliation":[{"name":"Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University , Guangzhou 510515,","place":["China"]},{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University , Guangzhou 510515,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8700-620X","authenticated-orcid":false,"given":"Yushan","family":"Huang","sequence":"additional","affiliation":[{"name":"College of Life Sciences, University of Chinese Academy of Sciences , Beijing 100049,","place":["China"]},{"name":"BGI Research , Shenzhen 518083,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1586-8955","authenticated-orcid":false,"given":"Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University , Guangzhou 510515,","place":["China"]},{"name":"Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University , Guangzhou 510515,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2869-3705","authenticated-orcid":false,"given":"Liuhua","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Huizhou Central People\u2019s Hospital , Huizhou 516001,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4470-2410","authenticated-orcid":false,"given":"Xinhua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Hematology, 923(rd) Hospital of the People\u2019s Liberation Army , Nanning 530021,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6236-393X","authenticated-orcid":false,"given":"Binbin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department 1 of Internal Medicine, Sixth People\u2019s Hospital of Nanning , Nanning 530022,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4489-4942","authenticated-orcid":false,"given":"Yueyan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Affiliated Hospital of Youjiang Medical University for Nationalities , 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