{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T07:16:58Z","timestamp":1789197418394,"version":"build-2803163510"},"reference-count":34,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,10,31]],"date-time":"2020-10-31T00:00:00Z","timestamp":1604102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Although glucose\u20106\u2010phosphate dehydrogenase (<jats:italic>G6PD<\/jats:italic>) deficiency is the most common inherited disorder in the Chinese population, there is scarce evidence regarding the epidemiology, evolutionary origin, and malaria\u2010induced positive selection effects of <jats:italic>G6PD<\/jats:italic>\u2010deficient alleles in various Chinese ethnic populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a large population\u2010based screening (<jats:italic>n<\/jats:italic>\u00a0=\u00a015,690) to examine the impact of selection on human nucleotide diversity and to infer the evolutionary history of the most common deficiency alleles in Chinese populations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The frequencies of <jats:italic>G6PD<\/jats:italic> deficiency ranged from 0% to 11.6% in 12 Chinese ethnic populations. A frequency map based on geographic information showed that <jats:italic>G6PD<\/jats:italic> deficiency was highly correlated with historical malaria prevalence in China and was affected by altitude and latitude. The five most frequently occurring <jats:italic>G6PD<\/jats:italic> gene variants were NM_001042351.3:c.1376G&gt;T, NM_001042351.3:c.1388G&gt;A, NM_001042351.3:c.95A&gt;G, NM_001042351.3:c.1311T&gt;C, and NM_001042351.3:c.1024C&gt;T, which were distributed with ethnic features. A pathogenic but rarely reported variant site (NM_001042351.3:c.448G&gt;A) was identified in this study. Bioinformatic analysis revealed a strong and recent positive selection targeting the NM_001042351.3:c.1376G&gt;T allele that originated in the past 3125 to 3750\u00a0years and another selection targeting the NM_001042351.3:c.1388G&gt;A allele that originated in the past 5000 to 6000\u00a0years. Additionally, both alleles originated from a single ancestor.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These results indicate that malaria has had a major impact on the Chinese genome since the introduction of rice agriculture.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1540","type":"journal-article","created":{"date-parts":[[2020,10,31]],"date-time":"2020-10-31T10:08:26Z","timestamp":1604138906000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Epidemiology, evolutionary origin, and malaria\u2010induced positive selection effects of <i>G6PD<\/i>\u2010deficient alleles in Chinese populations"],"prefix":"10.1002","volume":"8","author":[{"given":"Yuzhong","family":"Zheng","sequence":"first","affiliation":[{"name":"School of Food Engineering and Biotechnology Hanshan Normal University Chaozhou Guangdong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2636-7591","authenticated-orcid":false,"given":"Junli","family":"Wang","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center The Affiliated Hospital of Youjiang Medical University for Nationalities Baise China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueyan","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shantou University Medical College Shantou Guangdong China"},{"name":"Department of Medical Laboratory Chaozhou People\u2019s Hospital Affiliated to Shantou University Medical College Chaozhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiying","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shantou University Medical College Shantou Guangdong China"},{"name":"Department of Medical Laboratory Chaozhou People\u2019s Hospital Affiliated to Shantou University Medical College Chaozhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanbo","family":"Ma","sequence":"additional","affiliation":[{"name":"School of Mathematics and Statistics Hanshan Normal University Chaozhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liyun","family":"Lin","sequence":"additional","affiliation":[{"name":"School of Food Engineering and Biotechnology Hanshan Normal University Chaozhou Guangdong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunfang","family":"Wang","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center The Affiliated Hospital of Youjiang Medical University for Nationalities Baise China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofen","family":"Zhan","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Chaozhou Central Hospital Affiliated to Southern Medical University Chaozhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liye","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Chaozhou Central Hospital Affiliated to Southern Medical University Chaozhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangcai","family":"Zha","sequence":"additional","affiliation":[{"name":"School of Food Engineering and Biotechnology Hanshan Normal University Chaozhou Guangdong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peikui","family":"Yang","sequence":"additional","affiliation":[{"name":"School of Food Engineering and Biotechnology Hanshan Normal University Chaozhou Guangdong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianghui","family":"Zou","sequence":"additional","affiliation":[{"name":"School of Food Engineering and Biotechnology Hanshan Normal University Chaozhou Guangdong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zikai","family":"Chen","sequence":"additional","affiliation":[{"name":"School of Food Engineering and Biotechnology Hanshan Normal University Chaozhou Guangdong Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Chaozhou People\u2019s Hospital Affiliated to Shantou University Medical College Chaozhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weizhong","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Chaozhou People\u2019s Hospital Affiliated to Shantou University Medical College Chaozhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangzhi","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medical Laboratory Chaozhou People\u2019s Hospital Affiliated to Shantou University Medical College Chaozhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0025-6167","authenticated-orcid":false,"given":"Min","family":"Lin","sequence":"additional","affiliation":[{"name":"School of Food Engineering and Biotechnology Hanshan Normal University Chaozhou Guangdong Province China"},{"name":"Department of Medical Laboratory Chaozhou People\u2019s Hospital Affiliated to Shantou University Medical College Chaozhou Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,31]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410\u2010248"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0969\u20102126(00)00104\u20100"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.4269\/ajtmh.2007.77.779"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.021506298"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/cmr.15.4.564\u2010594.2002"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000489009"},{"issue":"11","key":"e_1_2_9_9_1","first-page":"15013","article-title":"Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province","volume":"8","author":"Hu R.","year":"2015","journal-title":"International Journal of Clinical and Experimental Pathology"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010005\u20100126\u20105"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2011.02.010"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu426"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.2471\/BLT.17.191668"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/49.1.49"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1061"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0123991"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23911"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1178849"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033\u2010012\u20102381\u20106"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102148\u201013\u201063"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01140"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124309"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.meegid.2010.08.003"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/162.4.1849"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0501980102"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0604335103"},{"issue":"4","key":"e_1_2_9_27_1","first-page":"224","article-title":"Common mutation analysis for patients found in Tianjin area with glucose\u20106\u2010phosphate dehydrogenase deficiency","volume":"16","author":"Song L.","year":"1999","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1061573"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0040072"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168\u20109525(92)90372\u2010B"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpls.2019.01037"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12303"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep28136"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.12659\/MSM.908402"},{"issue":"6","key":"e_1_2_9_35_1","first-page":"931","article-title":"The malaria situation in the People's Republic of China","volume":"59","author":"Zhou Z. J.","year":"1981","journal-title":"Bulletin of the World Health Organization"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1540","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1540","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1540","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T08:45:58Z","timestamp":1708505158000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1540"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,31]]},"references-count":34,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/mgg3.1540"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1540","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,31]]},"assertion":[{"value":"2020-06-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1540"}}