{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T20:29:28Z","timestamp":1776371368300,"version":"3.51.2"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T00:00:00Z","timestamp":1640563200000},"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\/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":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Considering limitations of previous studies and differences across populations and subtypes, this study aimed to identify new potential SNPs around IRF6 associated with non\u2010syndromic orofacial cleft (NSOC) in Western Han Chinese.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>We recruited 376\u00a0NSOC case\u2013parent trios, including 125 non\u2010syndromic cleft lip only (NSCLO) trios, 151 non\u2010syndromic cleft lip and palate (NSCLP) trios, and 100 non\u2010syndromic cleft palate only (NSCPO) trios. Twenty\u2010two single\u2010nucleotide polymorphisms (SNPs) were genotyped using MassARRAY method.\u00a0Hardy\u2013Weinberg equilibrium test, allelic transmission disequilibrium test (TDT) analysis, sliding\u2010window haplotype TDT analysis, and tests for parent\u2010of\u2010origin effect were performed using the PLINK software.\u00a0Pairwise linkage disequilibrium (LD) was computed using the Haploview program.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In TDT analysis, allele A at rs17015217 (\n                      <jats:italic>p\u00a0<\/jats:italic>\n                      =\u00a00.00011, OR\u00a0=\u00a00.61 and 95% CI: 0.47\u20130.78) and allele T at rs12080691 (\n                      <jats:italic>p\u00a0<\/jats:italic>\n                      =\u00a00.00011, OR\u00a0=\u00a00.61 and 95% CI: 0.47\u20130.78) were under\u2010transmitted among NSCLO trios but over\u2010transmitted among NSCPO trios. Haplotypes showing evidence of under\u2010transmission in NSCLO trios were over\u2010transmitted in NSCPO trios. In tests for parent\u2010of\u2010origin effects, T allele at rs12080691 presented paternal under\u2010transmission among NSCLO trios but over\u2010transmission among NSCPO trios.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Allele A at rs17015217 and allele T at rs12080691 are associated with NSCLO and NSCPO with potential to have opposite effects on two subtypes in this sample from Western Han Chinese.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14100","type":"journal-article","created":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T04:51:16Z","timestamp":1639198276000},"page":"1115-1127","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Association between variants around\n                    <i>IRF6<\/i>\n                    and non\u2010syndromic orofacial cleft in Western Han Chinese"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3337-5250","authenticated-orcid":false,"given":"Sidi","family":"Zhang","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 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qianming","family":"Chen","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 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao","family":"Yang","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 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayu","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"}]},{"given":"Yansong","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 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2120-5577","authenticated-orcid":false,"given":"Shijun","family":"Duan","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 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 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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 &amp; Department of cleft lip and palate West China Hospital of Stomatology Sichuan University China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1597\/14\u2010080"},{"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":"10.1038\/ng.333"},{"key":"e_1_2_9_5_1","first-page":"99","article-title":"Genetic epidemiology and control of genetic expression in van der Woude syndrome","volume":"2","author":"Burdick A. 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