{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T09:15:09Z","timestamp":1777108509631,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,5,30]],"date-time":"2018-05-30T00:00:00Z","timestamp":1527638400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Science Funds of China","award":["81600849"],"award-info":[{"award-number":["81600849"]}]},{"name":"National Science Funds of China","award":["81271118"],"award-info":[{"award-number":["81271118"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2018,7]]},"abstract":"Non\u2010syndromic cleft lip with or without cleft palate (NSCL<\/jats:styled-content>\/P) is a complex disorder, and it results from both of the genetic modifiers and environmental factors, with genetic modifiers contributes to it more than environmental factors. GWASs made great progress in identifying the candidate genes for NSCL<\/jats:styled-content>\/P, but the findings need to be replicated in other populations. In this study, we selected eleven SNP<\/jats:styled-content>s from recent GWAS<\/jats:styled-content>s and GWAS<\/jats:styled-content> meta\u2010analysis to investigate their associations among 308 NSCL<\/jats:styled-content>\/P trios (134 non\u2010syndromic cleft lip only (NSCLO<\/jats:styled-content>) trios and 174 non\u2010syndromic cleft lip with cleft palate (NSCLP<\/jats:styled-content>) trios) from Han Chinese population. All SNP<\/jats:styled-content>s were genotyped using SNP<\/jats:styled-content>scan method and analyzed the data with FBAT<\/jats:styled-content>, PLINK<\/jats:styled-content>, and R package. Allelic TDT<\/jats:styled-content> analysis showed that allele A at rs12543318 was associated with NSCLO<\/jats:styled-content> trios (P\u00a0<\/jats:italic>=\u00a0<\/jats:italic>.0032, OR\u00a0=\u00a00.57, 95% CI<\/jats:styled-content>: 0.39\u20100.83), and parent\u2010of\u2010origin effect analysis indicated that allele A at rs12543318 was significantly maternally undertransmitted among NSCLO<\/jats:styled-content> (P<\/jats:italic>\u00a0=\u00a0.0046), which implied the potential influence of genomic imprinting; global TDT<\/jats:styled-content> further confirmed this association. Individual genotypic TDT<\/jats:styled-content> showed homozygote C\/C at rs12543318 was overtransmitted among NSCLO<\/jats:styled-content> (Z\u00a0=\u00a03.79, P<\/jats:italic>\u00a0=\u00a0.00015) and NSCL<\/jats:styled-content>\/P groups (Z\u00a0=\u00a03.83, P<\/jats:italic>\u00a0=\u00a0.00013), which indicated that it could increase the risk to have cleft babies. Our findings indicated that rs12543318 was associated with NSCLO<\/jats:styled-content> from Western Han Chinese population, which will give new scientific evidence for later researches in the etiology of NSOC<\/jats:styled-content>s.<\/jats:p>","DOI":"10.1111\/jop.12719","type":"journal-article","created":{"date-parts":[[2018,4,23]],"date-time":"2018-04-23T15:45:38Z","timestamp":1524498338000},"page":"620-626","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Homozygote C\/C at rs12543318 was risk factor for non\u2010syndromic cleft lip only from Western Han Chinese population"],"prefix":"10.1111","volume":"47","author":[{"given":"Bi\u2010He","family":"Zhang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral Diseases Department of Cleft Lip and Palate National Clinical Research Center for Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Huang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases Department of Cleft Lip and Palate National Clinical Research Center for Oral Diseases 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\u00a0of Orthodontics School of Dentistry University of California Los Angeles CA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases Department of Cleft Lip and Palate National Clinical Research Center for Oral Diseases 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 Department of Cleft Lip and Palate National Clinical Research Center for Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,5,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.24238"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.333"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.020"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.506"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.580"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7414"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005059"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/eos.12212"},{"key":"e_1_2_7_11_1","first-page":"2862","article-title":"A multi\u2010ethnic genome\u2010wide association study identifies novel 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