{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T22:04:33Z","timestamp":1740175473907,"version":"3.37.3"},"reference-count":30,"publisher":"Maad Rayan Publishing Company","issue":"2","content-domain":{"domain":["joddd.tbzmed.ac.ir"],"crossmark-restriction":false},"short-container-title":["J Dent Res Dent Clin Dent Prospects"],"abstract":"<jats:p>\n            <jats:bold>Background.<\/jats:bold>  Cleft lip and palate (CLP) is a common congenital anomaly. Many genes, like MAPK4 andSOX-1OT, are associated with its etiology in different populations. High-risk markers on these genesreported in other populations were not studied in our population. Hence, the study aimed to determinethe association of MAPK4 and SOX-1OT polymorphisms in CLP in multiplex families. <jats:bold>Methods.<\/jats:bold>  Based on inclusion and exclusion criteria, we selected 20 multiplex CLP families for thiscase\u2012control study, in which the affected individuals and healthy controls selected from these familieswere compared. Fifty subjects affected with cleft and 38 unaffected subjects were included in the study.The polymorphisms studied for the association consisted of rs726455 and rs2969972 in the genes SOX-1OT and MAPK4, respectively. DNA was isolated and sent for genotyping using the MassArray method.Plink, a whole-genome association analysis toolset, was used for statistical analysis. <jats:bold>Results.<\/jats:bold>  Both polymorphisms followed Hardy\u2013Weinberg equilibrium. The rs726455 of SOX-1OTyielded a P-value of 0.983 and an allelic odds ratio (OR) of 0.983. For rs2969972 of MAPK4, the P-valuewas 0.04 (significant), and the allelic OR was 0.51. Minor allele frequency (MAF) in the unaffectedsubjects was more than the MAF in the affected subjects for rs2969972. <jats:bold>Conclusion.<\/jats:bold>  The results suggested that polymorphism rs726455 on SOX-1OT was not associated withfamilial cases of CLP. Since MAF in the unaffected subjects was more than the MAF-affected subjects,rs2969972 on MAPK4 is protective in the multiplex families.<\/jats:p>","DOI":"10.34172\/joddd.2020.021","type":"journal-article","created":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T05:58:20Z","timestamp":1595311100000},"page":"93-96","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Association of MAPK4 and SOX1-OT gene polymorphisms with cleftlip palate in multiplex families: A genetic study"],"prefix":"10.34172","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5168-4439","authenticated-orcid":true,"given":"Praveen Kumar","family":"Neela","sequence":"first","affiliation":[{"name":"Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally. India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Srinivas Reddy","family":"Gosla","sequence":"additional","affiliation":[{"name":"Department of Cranio-maxillofacial Surgery AIIMS, Rishikesh, Hyderabad, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akhter","family":"Husain","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Yenepoya Dental College, Yenepoya University, Mangalore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vasavi","family":"Mohan","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, Hyderabad, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sravya","family":"Thumoju","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, Hyderabad, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajeshwari","family":"BV","sequence":"additional","affiliation":[{"name":"Surabhi Institute of Medical Sciences, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"20123","published-online":{"date-parts":[[2020,6,17]]},"reference":[{"key":"R1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw104"},{"key":"R2","doi-asserted-by":"publisher","DOI":"10.4103\/0970-0358.73443"},{"key":"R3","doi-asserted-by":"publisher","DOI":"10.1590\/S1808-86942011000100004"},{"key":"R4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1853"},{"key":"R5","first-page":"369","article-title":"Dermatoglyphic features in congenital cleft lip and cleft palate anomalies","volume":"84","author":"Balgir R  S","year":"1986","journal-title":"J Indian Med Assoc"},{"key":"R6","doi-asserted-by":"publisher","DOI":"10.4103\/0970-0358.53004"},{"key":"R7","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-200002000-00001"},{"key":"R8","doi-asserted-by":"crossref","first-page":"33","DOI":"10.4103\/jclpca.jclpca_34_18","article-title":"Association of cleft lip and\/or palate in people born to consanguineous parents: A 13-year retrospective study from a very high-volume cleft center","volume":"6","author":"Neela PK","year":"2019","journal-title":"J Cleft Lip Palate Craniofac Anomal"},{"key":"R9","first-page":"78\u201381","article-title":"Epidemiological Profile of Cleft Lip and Palate Patients Attending Tertiary Care Hospital and Medical Research Centre, Belgaum, Karnataka: A Hospital Based Study","volume":"13","author":"Sah RK","year":"2014","journal-title":"IOSR-JDMS"},{"key":"R10","doi-asserted-by":"crossref","unstructured":"Cobourne MT. Cleft lip and palate: epidemiology, aetiology, and treatment. 1st ed. Basel: Karger; 2012. p.71-80.","DOI":"10.1159\/isbn.978-3-318-02108-0"},{"key":"R11","doi-asserted-by":"publisher","DOI":"10.1038\/ijos.2016.56"},{"key":"R12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0010064"},{"key":"R13","doi-asserted-by":"crossref","first-page":"755\u201362","DOI":"10.1016\/j.ajhg.2016.02.013","article-title":"Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate","volume":"98","author":"Mangold E","year":"2016","journal-title":"Am J Hum Genet"},{"key":"R14","doi-asserted-by":"crossref","first-page":"968\u201371","DOI":"10.1038\/ng.2360","article-title":"Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci","volume":"44","author":"Ludwig KU","year":"2012","journal-title":"Nat Genet"},{"key":"R15","doi-asserted-by":"crossref","first-page":"211","DOI":"10.3892\/mmr.2013.1467","article-title":"Association of NAT1 and NAT2 genes with nonsyndromic cleft lip and palate","volume":"8","author":"Song T","year":"2013","journal-title":"Mol Med Rep"},{"key":"R16","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/ejhg.2008.149","article-title":"Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate","volume":"17","author":"Chiquet BT","year":"2009","journal-title":"EJHG"},{"key":"R17","first-page":"1\u20134","article-title":"Differential parental transmission of markers in BCL3 among Korean cleft case-parent trios","volume":"42","author":"Park BY","year":"2009","journal-title":"J Prev Med Public Health"},{"key":"R18","first-page":"123\u201327","article-title":"A candidate gene approach to identify modifiers of the palatal phenotype in 22q112 deletion syndrome patients","volume":"77","author":"Widdershoven JCC","year":"2013","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"R19","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ajhg.2016.02.014","article-title":"A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3","volume":"98","author":"Leslie EJ","year":"2016","journal-title":"Am J Hum Genet"},{"key":"R20","unstructured":"MAPK4 mitogen-activated protein kinase 4 [Homo sapiens (human)] - Gene - NCBI n.d. https:\/\/www.ncbi.nlm.nih.gov\/gene\/5596 (accessed June 4, 2020)."},{"key":"R21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.02.005"},{"key":"R22","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"R23","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-6442-0_5"},{"key":"R24","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"R25","first-page":"PMC1683414","article-title":"Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate Am J Hum Genet 1989;45: 348\u201353","volume":"PMCID","author":"Ardinger HH","year":"0526","journal-title":"PMID: 257"},{"key":"R26","doi-asserted-by":"publisher","DOI":"10.1086\/301956"},{"key":"R27","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.004"},{"key":"R28","doi-asserted-by":"publisher","DOI":"10.1086\/507487"},{"key":"R29","doi-asserted-by":"publisher","DOI":"10.1086\/518944"},{"key":"R30","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2016.00088"}],"container-title":["Journal of Dental Research, Dental Clinics, Dental Prospects"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/joddd.tbzmed.ac.ir\/PDF\/joddd-14-93.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/joddd.tbzmed.ac.ir\/PDF\/joddd-14-93.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,21]],"date-time":"2020-07-21T05:58:25Z","timestamp":1595311105000},"score":1,"resource":{"primary":{"URL":"https:\/\/joddd.tbzmed.ac.ir\/Article\/joddd-28059"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,17]]},"references-count":30,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,6]]}},"URL":"https:\/\/doi.org\/10.34172\/joddd.2020.021","relation":{},"ISSN":["2008-210X","2008-2118"],"issn-type":[{"type":"print","value":"2008-210X"},{"type":"electronic","value":"2008-2118"}],"subject":[],"published":{"date-parts":[[2020,6,17]]},"assertion":[{"value":"Tabriz University of Medical Sciences","name":"journal_owner","label":"Journal Owner"},{"value":"Tabriz University of Medical Sciences","name":"journal_publisher","label":"Journal Publisher"}]}}