{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:00:59Z","timestamp":1790974859257,"version":"4.1.0"},"reference-count":32,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T00:00:00Z","timestamp":1393632000000},"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":[[2014,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To investigate the association and parental transmission of RUNX2 single nucleotide polymorphisms (SNPs) with risk of nonsyndromic cleft lip with or without cleft palate (NS-CL\u00b1P).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>\n                      Four RUNX2 SNPs in 142 Korean NS-CL\u00b1P families (nine cleft lip, 26 cleft lip and alveolus, and 107 cleft lip and palate; 76 trios and 66 dyads) were genotyped. The minor allele frequency, heterozygosity, and chi-square test for Hardy-Weinberg equilibrium at each SNP were computed between parents. Pairwise linkage disequilibrium was computed as D\u2032 and r\n                      <jats:sup>2<\/jats:sup>\n                      for all SNPs. Both allelic and genotypic transmission disequilibrium tests (TDTs) were performed for individual SNPs using a family-based association test program. Sliding windows of haplotypes consisting of two to four SNPs were tested using a haplotype-based association test program. Genotypic odds ratios (GORs) were calculated from conditional logistic regression models. Parent-of-origin effects were assessed using transmission asymmetry test and parent-of-origin likelihood ratio test.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The family-based TDT showed significant evidence of linkage and association at rs1934328 ( P = .001). In the haplotype analysis, two, three, and four haplotypes containing rs1934328 revealed significant associations ( P = .0017, P = .0022, and P = .0020, respectively). The genotypes A\/T and T\/T at rs1934328 were significantly associated with NS-CL\u00b1P compared with the genotype A\/A (GOR = 2.75, 95% confidence interval [CI] = 1.39\u20135.45, P =0.0019 in the dominant model; GOR = 5.38, 95% CI = 1.34\u201321.68, P = .0046 in the additive model). However, no parent-of origin effect was observed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These findings suggest possible involvement of RUNX2-rs 194328 in the etiology of NS-CL\u00b1P in Korean cleft-parent trios without excess parental transmission.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/12-312","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T12:23:10Z","timestamp":1375446190000},"page":"234-239","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Investigation of Parental Transmission of\n                    <i>RUNX2<\/i>\n                    Single Nucleotide Polymorphism and Its Association with Nonsyndromic Cleft Lip with or Without Palate"],"prefix":"10.1177","volume":"51","author":[{"given":"Seung Hee","family":"Jung","sequence":"first","affiliation":[{"name":"Department of Orthodontics, The Institute of Oral Health Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ah-Young","family":"Lee","sequence":"additional","affiliation":[{"name":"South Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Wan","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, College of Medicine, Hallym University, Chuncheon, Gangwon Province, South Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung-Hak","family":"Baek","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, School of Dentistry, Dental Research Institute, Seoul National University, Seoul, South Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Ho","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, The Institute of Oral Health Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2014,3,1]]},"reference":[{"key":"bibr1-12-312","doi-asserted-by":"publisher","DOI":"10.1177\/002215540405200113"},{"key":"bibr2-12-312","doi-asserted-by":"publisher","DOI":"10.1038\/nrg777"},{"key":"bibr3-12-312","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1039"},{"key":"bibr4-12-312","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2007.06.007"},{"key":"bibr5-12-312","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/26.1.7"},{"key":"bibr6-12-312","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10024"},{"key":"bibr7-12-312","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.10307"},{"key":"bibr8-12-312","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200625"},{"key":"bibr9-12-312","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.03.003"},{"key":"bibr10-12-312","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510391052"},{"key":"bibr11-12-312","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31479"},{"key":"bibr12-12-312","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80258-5"},{"key":"bibr13-12-312","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-307"},{"key":"bibr14-12-312","doi-asserted-by":"publisher","DOI":"10.1086\/301956"},{"key":"bibr15-12-312","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23005"},{"key":"bibr16-12-312","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80260-3"},{"key":"bibr17-12-312","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80259-7"},{"key":"bibr18-12-312","doi-asserted-by":"publisher","DOI":"10.1159\/000022918"},{"key":"bibr19-12-312","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1207676"},{"key":"bibr20-12-312","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32302"},{"key":"bibr21-12-312","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20323"},{"key":"bibr22-12-312","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0680-3"},{"key":"bibr23-12-312","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2004.04.015"},{"key":"bibr24-12-312","first-page":"487","volume":"57","author":"Thomson 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