{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T03:51:48Z","timestamp":1776743508426,"version":"3.51.2"},"reference-count":44,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T00:00:00Z","timestamp":1628208000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Non\u2010syndromic cleft palate only (NSCPO) is a common congenital deformity with complex etiologies. <jats:italic>GRHL3<\/jats:italic>, <jats:italic>FAF1<\/jats:italic>, and <jats:italic>KCNJ2<\/jats:italic>\u00a0have been reported to be involved in the pathogenesis of NSCPO. Up till now, there have been no replication studies based on large Han Chinese. Therefore, this study aimed to investigate associations between <jats:italic>GRHL3<\/jats:italic>, <jats:italic>FAF1<\/jats:italic>, <jats:italic>KCNJ2<\/jats:italic>, and NSCPO sub\u2010phenotypes patients in Han Chinese.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Firstly, we selected 2 SNPs based on previous literatures: <jats:italic>FAF1<\/jats:italic> (rs3827730) and <jats:italic>GRHL3<\/jats:italic> (rs41268753). Also, we selected 8 tagSNPs in <jats:italic>GRHL3<\/jats:italic> (rs557811, rs609352, rs10903078, rs6659209, rs12401714, rs12568599, rs3887581, rs12024148) and 2 tagSNPs in <jats:italic>KCNJ2<\/jats:italic> (rs75855040 and rs236514). Afterward, we evaluated these SNPs among 1668\u00a0NSCPO patients and 1811 normal controls from Han Chinese. Following data were analyzed by PLINK and Haploview program.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Association analysis under additive model showed that allele A at rs12568599 in <jats:italic>GRHL3<\/jats:italic>\u00a0gene is significantly associated with NSCPO (<jats:italic>p<\/jats:italic> = 0.0034, OR = 1.38 and 95%CI: 1.11\u20131.72) and its sub\u2010phenotype incomplete cleft palate (ICP) (<jats:italic>p<\/jats:italic> = 0.0039, OR = 1.4 and 95%CI: 1.11\u20131.75), and it could increase the risk of both NSCPO and ICP.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study firstly found that rs12568599 in <jats:italic>GRHL3<\/jats:italic> is associated with NSCPO and ICP in Han Chinese, indicating that sub\u2010phenotypes of NSCPO have different etiologies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.13961","type":"journal-article","created":{"date-parts":[[2021,7,13]],"date-time":"2021-07-13T15:43:45Z","timestamp":1626191025000},"page":"2204-2214","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Association analysis of SNPs in <i>GRHL3<\/i>, <i>FAF1<\/i>, and <i>KCNJ2<\/i> with NSCPO sub\u2010phenotypes in Han Chinese"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8563-1308","authenticated-orcid":false,"given":"Jia\u2010Lin","family":"Sun","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of Cleft Lip and Palate West China Hospital of Stomatology Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia\u2010Yu","family":"Shi","sequence":"additional","affiliation":[{"name":"Division of Growth and Development and Section of Orthodontics School of Dentistry University of California  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1279-3170","authenticated-orcid":false,"given":"Bin","family":"Yin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of Cleft Lip and Palate West China Hospital of Stomatology Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0866-0893","authenticated-orcid":false,"given":"Yan\u2010Song","family":"Lin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of Cleft Lip and Palate West China Hospital of Stomatology Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of Cleft Lip and Palate West China Hospital of Stomatology Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0129-0367","authenticated-orcid":false,"given":"Zhong\u2010Lin","family":"Jia","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases &amp; National Clinical Research Center for Oral Diseases &amp; Department of Cleft Lip and Palate West China Hospital of Stomatology Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2013.05.001"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1110931108"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2016.00067"},{"key":"e_1_2_9_6_1","first-page":"310","article-title":"Regulation of tRNA synthesis by posttranslational modifications of RNA polymerase III subunits. Biochimica et biophysica acta","volume":"1861","author":"Chymkowitch P.","year":"2018","journal-title":"Gene Regulatory Mechanisms"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.078592"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.269"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517729819"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.24238"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/anec.12074"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.003"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069385"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0159940"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2828(03)00046-4"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008357"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1768"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2016.12.010"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019646"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.014"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005914"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1107573"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23329"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.013"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1621\/nrs.07002"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2014.12.009"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1159\/000337464"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12049"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/em.21773"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.009"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00342-7"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.10.031"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.42386"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0472-x"},{"key":"e_1_2_9_37_1","first-page":"675","article-title":"Analysis of clinical phenotypes and KCNJ2 gene mutations in a Chinese pedigree affected with Andersen\u2010Tawil syndrome","volume":"35","author":"Sun H.","year":"2018","journal-title":"Chinese Journal of Medical Genetics"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1107511"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms15021"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.09.034"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.13566"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14364"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.07.015"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.2.160"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032909"}],"container-title":["Oral Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/odi.13961","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/odi.13961","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/odi.13961","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T03:02:30Z","timestamp":1692586950000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/odi.13961"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,6]]},"references-count":44,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1111\/odi.13961"],"URL":"https:\/\/doi.org\/10.1111\/odi.13961","archive":["Portico"],"relation":{},"ISSN":["1354-523X","1601-0825"],"issn-type":[{"value":"1354-523X","type":"print"},{"value":"1601-0825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,6]]},"assertion":[{"value":"2021-02-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}