{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T10:11:06Z","timestamp":1770459066522,"version":"3.49.0"},"reference-count":46,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T00:00:00Z","timestamp":1650844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81760059"],"award-info":[{"award-number":["81760059"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81960068"],"award-info":[{"award-number":["81960068"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Solute carrier family 2\u00a0member 3 (<jats:italic>SLC2A3)<\/jats:italic>, is a member of a superfamily of transport protein genes. <jats:italic>SLC2A3<\/jats:italic> played an important role in embryonic development. Previous research reported <jats:italic>SLC2A3<\/jats:italic> duplication was reportedly associated with congenital syndromic heart defects. However, it is not clear whether the gene is associated with non\u2010syndromic congenital heart disease. Our study aimed to elucidate the relationship between its variation and congenital heart disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic DNA extracted from the peripheral blood leukocytes of two families with CHD were sequenced with whole\u2010exome sequencing to identify variations, used Sanger sequencing to investigate S<jats:italic>LC2A3<\/jats:italic> variants in 494 Chinese patients with CHD and 576\u00a0healthy unrelated individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In members from the two families, three with CHD had the <jats:italic>SLC2A3<\/jats:italic> (rs3931701) C\u00a0&gt;\u00a0T variant. Of the 494 patients with CHD, 394\u00a0had gene variants (86\u00a0had the TT type and 308\u00a0had the CT type). Of the 576\u00a0healthy controls, 272 participants had gene variants (36\u00a0had the TT type and 236\u00a0had the CT type). The TT type [<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.0001, odds ratio (OR) =7.262, 95% confidence interval (CI) =4.631\u201311.388] and CT type (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.0001, OR =3.967, 95% CI =2.991\u20135.263) of <jats:italic>SLC2A3<\/jats:italic> (rs3931701) significantly increased the risk of sporadic ASD in a Chinese Yunnan population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Single nucleotide variations of <jats:italic>SLC2A3<\/jats:italic>, particularly, the <jats:italic>SLC2A3<\/jats:italic> (rs3931701) C\u00a0&gt;\u00a0T variant increased the risk of CHD among the studied population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24456","type":"journal-article","created":{"date-parts":[[2022,4,25]],"date-time":"2022-04-25T07:09:25Z","timestamp":1650870565000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>SLC2A3<\/i> variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population"],"prefix":"10.1002","volume":"36","author":[{"given":"Lijing","family":"Ma","sequence":"first","affiliation":[{"name":"Faculty of Life Science and Technology Kunming University of Science and Technology  Kunming China"},{"name":"Department of Endocrinology The First People\u2019s Hospital of Yunnan Province  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaxin","family":"Xu","sequence":"additional","affiliation":[{"name":"Yan'an Hospital Affiliated to Kunming Medical University  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qisheng","family":"Tang","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Research Center The First People's Hospital of Yunnan Province  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery The First Peoples\u2019 Hospital of Yunnan Province  Kunming China"},{"name":"Department of Cardiovascular Surgery The First Affiliated Hospital of Kunming University of Science and Technology  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruize","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Vascular Surgery The First Peoples\u2019 Hospital of Yunnan Province  Kunming China"},{"name":"Department of Vascular Surgery The First Affiliated Hospital of Kunming University of Science and Technology  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunlin","family":"Li","sequence":"additional","affiliation":[{"name":"Yan'an Hospital Affiliated to Kunming Medical University  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Liu","sequence":"additional","affiliation":[{"name":"Regenerative Medicine Research Center The First People's Hospital of Yunnan Province  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5759-2903","authenticated-orcid":false,"given":"Lihong","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery The First Peoples\u2019 Hospital of Yunnan Province  Kunming China"},{"name":"Department of Cardiovascular Surgery The First Affiliated Hospital of Kunming University of Science and Technology  Kunming China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,25]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887\u2010020\u201002313\u20104"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.2174\/1871529X20999201231205746"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.38.3.604"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes7020006"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.612"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2020.103611"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010020\u201002200\u2010z"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0301\u20102115(98)00061\u2010x"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.118.011615"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001694"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951114001887"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12872\u2010019\u20101206\u20100"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/18.6.335"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2015.01.013"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.5271\/sjweh.3912"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1056"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/6215675"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001324"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehi378"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.00344.2006"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2011\u20101973"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.01.013"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.04.013"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06801"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.281.5373.108"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq315"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0904744106"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1086\/519530"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1526"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.00407.2001"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jnutbio.2012.06.006"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1159\/000017333"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0005\u20102736(98)00216\u20108"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1097\/00029330-200807020-00002"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2021.01.020"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.15609.1"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1677\/JOE\u201008\u20100262"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.10.086"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2010.29"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcpp.12702"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22471"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.03.007"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1159\/000477226"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37953"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1213\/ANE.0000000000001451"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.24456","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.24456","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.24456","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T19:57:07Z","timestamp":1692734227000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.24456"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,25]]},"references-count":46,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1002\/jcla.24456"],"URL":"https:\/\/doi.org\/10.1002\/jcla.24456","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,25]]},"assertion":[{"value":"2022-01-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e24456"}}