{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:14:13Z","timestamp":1777522453429,"version":"3.51.4"},"reference-count":30,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2013,9,1]],"date-time":"2013-09-01T00:00:00Z","timestamp":1377993600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To further confirm the association between two IRF6 single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate in a Chinese population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Participants<\/jats:title>\n                    <jats:p>A total of 106 nonsyndromic cleft lip with or without cleft palate case trios and 129 control trios.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Intervention<\/jats:title>\n                    <jats:p>Two IRF6 single nucleotide polymorphisms, rs2235371 and rs642961, were genotyped for all case and control families. Case-control analysis and family-based linkage analysis were both performed for the two single nucleotide polymorphisms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The genotype and allele frequencies of rs2235371 (odds ratio\n                      <jats:sub>AG+AA vs. GG<\/jats:sub>\n                      , 0.581; 95% confidence interval, 0.345 to 0.976; P = .039) and rs642961 (odds ratio\n                      <jats:sub>AG+AA vs. GG<\/jats:sub>\n                      , 5.389; 95% confidence interval, 2.936 to 9.893; P = 5e-08) were significantly higher in nonsyndromic cleft lip with or without cleft palate patients compared with controls. There was an obvious dosage effect of allele A at rs642961. The transmission of a major allele (G) of rs2235371 and a minor allele (A) of rs642961 was in disequilibrium ( P &lt; .05) in complete case-parent trios. The association between the two single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate was confirmed by the Family-Based Association Test for rs642961 ( P = .008), but there was no significance for rs2235371 ( P = 0.057). Haplotype analysis found that rs2235371 G\/rs642961 A haplotype increased the risk of nonsyndromic cleft lip with or without cleft palate ( P = 2.42e-07); whereas, rs2235371 A\/rs642961 G haplotype reduced the risk of nonsyndromic cleft lip with or without cleft palate ( P = 4.37e-05). No evidence of linkage disequilibrium was found between the two single nucleotide polymorphisms (D\u2032 = 0.303, r\n                      <jats:sup>2<\/jats:sup>\n                      = 0.017).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our results confirmed the involvement of the IRF6 variants rs642961 and rs2235371 in the etiology of nonsyndromic cleft lip with or without cleft palate in a Chinese population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/12-234","type":"journal-article","created":{"date-parts":[[2013,3,19]],"date-time":"2013-03-19T14:30:56Z","timestamp":1363703456000},"page":"570-576","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":16,"title":["Association between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip with or without Cleft Palate in a Chinese Population"],"prefix":"10.1177","volume":"50","author":[{"given":"Qian","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Nutrition and Food Hygiene, School of Public Health, Laboratory of Molecular Toxicology and Development Molecular Biology, Peking University, Beijing, People's Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengjie","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Food Hygiene, School of Public Health, Laboratory of Molecular Toxicology and Development Molecular Biology, Peking University, Beijing, People's Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenli","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Food Hygiene, School of Public Health, Laboratory of Molecular Toxicology and Development Molecular Biology, Peking University, Beijing, People's Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinzhen","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Food Hygiene, School of Public Health, Laboratory of Molecular Toxicology and Development Molecular Biology, Peking University, Beijing, People's Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Food Hygiene, School of Public Health, Laboratory of Molecular Toxicology and Development Molecular Biology, Peking University, Beijing, People's Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Food Hygiene, School of Public Health, Laboratory of Molecular Toxicology and Development Molecular Biology, Peking University, Beijing, People's Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuqin","family":"Li","sequence":"additional","affiliation":[{"name":"Sheng-Jing Hospital of China Medical University, Shenyang, People's Republic of China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2013,9,1]]},"reference":[{"key":"bibr1-12-234","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"bibr2-12-234","doi-asserted-by":"publisher","DOI":"10.1016\/j.modgep.2005.03.002"},{"key":"bibr3-12-234","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30887"},{"key":"bibr4-12-234","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/bdra.20607","volume":"88","author":"Dai L.","year":"2010","journal-title":"Birth Defects Res A Clin Mol Teratol."},{"key":"bibr5-12-234","doi-asserted-by":"publisher","DOI":"10.1007\/s001090050369"},{"key":"bibr6-12-234","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201486"},{"key":"bibr7-12-234","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000157128.95526.79"},{"key":"bibr8-12-234","doi-asserted-by":"publisher","DOI":"10.1177\/0022034509341040"},{"key":"bibr9-12-234","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"bibr10-12-234","doi-asserted-by":"publisher","DOI":"10.1002\/1098-2272(2000)19:1+<::AID-GEPI6>3.0.CO;2-M"},{"key":"bibr11-12-234","doi-asserted-by":"crossref","unstructured":"LiZ. 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