{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:13:09Z","timestamp":1778641989632,"version":"3.51.4"},"reference-count":44,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82360538"],"award-info":[{"award-number":["82360538"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Glucose\u20106\u2010phosphate dehydrogenase (G6PD) deficiency exhibits high prevalence in malaria\u2010endemic regions and areas along the historic Maritime Silk Road. This study investigated the burden and genetic architecture of G6PD deficiency in Nanning, the ethnically diverse capital of Guangxi in southern China, where Southeast Asian gene flow has shaped population genetics. We screened 14\u2009403 individuals for G6PD activity at The First Affiliated Hospital of Guangxi Medical University, defining deficiency as activity &lt;\u200960% of adjusted male median (AMM\u2009=\u20092045\u2009U\/L). Among 2513 deficient cases (prevalence: 17.45%), frequency was significantly higher in males (63.75%) vs. females (36.25%;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001) and Han Chinese (60.92%) vs. Zhuang (39.08%;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.925). Multiplex melting curve analysis (MMCA) of 2513 enzyme\u2010deficient samples identified pathogenic mutations in 1161 cases, revealing 13 distinct variants. The predominant mutations were: c.1388G&gt;A (39.53%; 459\/1161), c.1376G&gt;T (24.81%; 288\/1161), and c.95A&gt;G (12.40%; 144\/1161). Mutation c.871G&gt;A exhibited male bias (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001), while c.95A&gt;G was Zhuang\u2010enriched (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001). Sanger sequencing of MMCA\u2010negative cases identified two rare pathogenic variants (c.406C&gt;T, c.196T&gt;A). Our findings establish Nanning as a region of exceptionally high G6PD deficiency prevalence and delineate a distinct mutation profile with sex\u2010 and ethnicity\u2010linked distributions. These results provide critical insights for designing precision screening programs and public health strategies tailored to this genetically diverse population.\n                  <\/jats:p>","DOI":"10.1111\/cge.70144","type":"journal-article","created":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T14:12:50Z","timestamp":1769609570000},"page":"1007-1016","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Ethnic Variation in\n                    <scp>G6PD<\/scp>\n                    Deficiency: Epidemiology and Mutation Spectrum in Southern China's Multiethnic Hub, Nanning"],"prefix":"10.1111","volume":"109","author":[{"given":"Jiawei","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Guangxi Medical University  Nanning China"},{"name":"Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2991-3818","authenticated-orcid":false,"given":"Shengwei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Guangxi Medical University  Nanning China"},{"name":"Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanfeng","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Guangxi Medical University  Nanning China"},{"name":"Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zixiao","family":"Lei","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Guangxi Medical University  Nanning China"},{"name":"Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiejun","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Guangxi Medical University  Nanning China"},{"name":"Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuling","family":"Qiu","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Thalassemia Research  Nanning China"},{"name":"NHC Key Laboratory of Thalassemia Medicine, Guangxi Key Laboratory of Thalassemia Research  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0141-5294","authenticated-orcid":false,"given":"Zheng","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory The First Affiliated Hospital of Guangxi Medical University  Nanning China"},{"name":"Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education  Nanning China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,28]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019000944"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2015.11.006"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60073-2"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V84.11.3613.bloodjournal84113613"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2022.932154"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1475-2875-12-418"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-021-03010-6"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1178849"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1540"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00791.x"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hemonc.2017.05.029"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000011553"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-023-00473-9"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12936-018-2248-y"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12206648"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-74200-y"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/16078454.2022.2065094"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-023-05533-7"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpubh.2022.1010172"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.3109\/08880018.2014.940074"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0496-2"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.068320"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2012.01.001"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.phrs.2021.105904"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1345537"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1422214"},{"issue":"3","key":"e_1_2_12_28_1","first-page":"383","article-title":"Prevalence 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