{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T13:00:21Z","timestamp":1785416421749,"version":"3.56.0"},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T00:00:00Z","timestamp":1650499200000},"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":["82170919"],"award-info":[{"award-number":["82170919"]}],"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":["81600849"],"award-info":[{"award-number":["81600849"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004829","name":"Department of Science and Technology of Sichuan Province","doi-asserted-by":"publisher","award":["2020YJ0211"],"award-info":[{"award-number":["2020YJ0211"]}],"id":[{"id":"10.13039\/501100004829","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      A significant genetic association between rs7078160 in\n                      <jats:italic>VAX1<\/jats:italic>\n                      and NSCL\/P has been established through genome\u2010wide association studies (GWAS), and we previously replicated the association in the Chinese population. The critical issue in the post\u2010GWAS era is to identify functional variations that have a real impact on disease in the susceptible regions highlighted by GWAS. This study aimed to elucidate functional variants in VAX1 fully.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>Firstly, target sequencing was performed on 159\u00a0NSCL\/P patients, followed by association analysis to discover disease\u2010associated single\u2010nucleotide polymorphisms (SNPs); we then replicated the findings using a larger sample (1626 cases, 2255 controls) and investigated how candidate SNPs affect disease occurrence using extensive annotation databases. Additionally, we compared the genetic profiles of NSCL\/P subtypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In this study, 6 SNPs in VAX1 were identified to be associated with NSCL\/P in the Western Han Chinese population. Five of them were predicted to influence transcriptional factor\u2010biding ability and were expression quantitative trait loci (eQTLs) of nearby genes in multiple tissues.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The previously reported association between rs7078160 and NSCL\/P was successfully replicated. Moreover, our findings firstly revealed that 5 SNPs in\n                      <jats:italic>VAX1<\/jats:italic>\n                      are associated with NSCL\/P in the Western Han Chinese population.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Level of Evidence<\/jats:title>\n                    <jats:p>Original Reports.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14210","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T03:43:25Z","timestamp":1649907805000},"page":"2130-2138","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Target sequencing reveals the association between variants in\n                    <i>VAX1<\/i>\n                    and NSCL\/P in Chinese population"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2186-7052","authenticated-orcid":false,"given":"Yue","family":"You","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases Department of Cleft Lip and Palate West China Hospital of Stomatology Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayu","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Orthodontics and Pediatric Dentistry School of Dentistry The University of Michigan Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases Department of Cleft Lip and Palate West China Hospital of Stomatology Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0129-0367","authenticated-orcid":false,"given":"ZhongLin","family":"Jia","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases Department of Cleft Lip and Palate West China Hospital of Stomatology Sichuan University Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2016.1925"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy402"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.23605"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.22214"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019004664"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.07.012"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(16)00576\u20106"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.24238"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36693"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517724145"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.23.3106"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2014\u20101277"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.2217\/epi\u20102018\u20100091"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008357"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1262110"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1249"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.004"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.014"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.497"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.aaw0946"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1022"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2360"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.506"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2011.07.007"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.592271"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(09)60695\u20104"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.22862"},{"key":"e_1_2_11_30_1","article-title":"Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations","author":"Rudakou U.","year":"2020","journal-title":"Brain"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2018.0207"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010018\u201029681\u20103"},{"issue":"6","key":"e_1_2_11_33_1","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.038851","article-title":"Anterior cleft palate due to Cbfb deficiency and its rescue by folic acid","volume":"12","author":"Sarper S. 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