{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T10:21:37Z","timestamp":1753438897930,"version":"3.37.3"},"reference-count":17,"publisher":"Georg Thieme Verlag KG","issue":"01","license":[{"start":{"date-parts":[[2022,2,25]],"date-time":"2022-02-25T00:00:00Z","timestamp":1645747200000},"content-version":"vor","delay-in-days":24,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Indian J Plast Surg"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Background\u2003Cleft lip with or without palate (CL\/P) is the most common orofacial birth defect. Single-nucleotide polymorphisms (SNPs) in MAFB gene (V-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog B) were identified as susceptible to this defect in a genome-wide association study. To further evaluate its role in this birth defect, we conducted this study with the aim of identifying allele frequencies, genotype frequencies, and association of SNPs rs13041247, rs6065259, and rs6072081 of MAFB gene with nonsyndromic cleft lip\/palate (NCL\/P) in Kinh Vietnamese patients.<\/jats:p><jats:p>\n          Methods\u2003We performed case\u2013control study involved 79 patients with NCL\/P and 77 healthy controls. DNAs were extracted from participants' saliva and tetra-amplification refractory mutation system polymerase chain reaction (tetra-ARMS PCR) was used for genotyping SNPs.<\/jats:p><jats:p>\n          Results\u2003SNPs of MAFB gene were genotyped using the Tetra-ARMS PCR method. We found that genotype CT of rs13041247 was associated with an increased risk of NCL\/P in Kinh Vietnamese (odds ratioTCTT [ORTC\/TT]\u2009=\u20091.63, 95% confidence interval [CI]\u2009=\u20090.83\u20133.19, p\u2009=\u20090.17). The G allele genotypes of SNP rs6072081 increase high risk for the malformation, statistically significant result (ORGG\/AA\u2009=\u20097.06, 95% CI\u2009=\u20092.13\u201323.42, p\u2009&lt;\u20090.001). There is no clear association between rs6065259 and CL\/P (ORAA\/GG\u2009=\u20090.75, 95% CI\u2009=\u20090.22\u20132.50, p\u2009=\u20090.32; ORAG\/GG\u2009=\u20091.53, 95% CI\u2009=\u20090.79\u20132.97, p\u2009=\u20090.32). When the patients were divided into the phenotypic subgroups, there was a similar significant trend between the patients and controls for all SNPs.<\/jats:p><jats:p>\n          Conclusions\u2003Our study provides further evidence of role of MAFB gene variations with NCL\/P defect in Kinh Vietnamese.<\/jats:p>","DOI":"10.1055\/s-0041-1733809","type":"journal-article","created":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T00:13:02Z","timestamp":1645834382000},"page":"070-074","source":"Crossref","is-referenced-by-count":3,"title":["Association of Single-Nucleotide Polymorphisms of MAFB Gene with Nonsyndromic Cleft Lip with or without Cleft Palate in Kinh Vietnamese Patients"],"prefix":"10.1055","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7199-9593","authenticated-orcid":false,"given":"Hoanh Duy Ba","family":"Phan","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, University Medical Center, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lam Hoai","family":"Phuong","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, University Medical Center, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4232-6001","authenticated-orcid":false,"given":"Hoang Anh","family":"Vu","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2022,2,25]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1016\/S0140-6736(09)60695-4","article-title":"Cleft lip and palate","volume":"374","author":"P A Mossey","year":"2009","journal-title":"Lancet"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1034\/j.1399-0004.2002.610402.x","article-title":"Gene\/environment causes of cleft lip and\/or palate","volume":"61","author":"J C Murray","year":"2002","journal-title":"Clin Genet"},{"issue":"01","key":"ref3","first-page":"182","article-title":"Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate\u2013a Danish Registry study","volume":"58","author":"K Christensen","year":"1996","journal-title":"Am J Hum Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"R73","DOI":"10.1093\/hmg\/ddh052","article-title":"Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts","volume":"13","author":"P Stanier","year":"2004","journal-title":"Hum Mol Genet"},{"issue":"10","key":"ref5","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1016\/j.ijporl.2007.06.007","article-title":"Human genetic factors in nonsyndromic cleft lip and palate: an update","volume":"71","author":"F Carinci","year":"2007","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"02","key":"ref6","first-page":"323","article-title":"Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis","volume":"51","author":"L E Mitchell","year":"1992","journal-title":"Am J Hum Genet"},{"issue":"02","key":"ref7","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1177\/154405910808700202","article-title":"Unraveling human cleft lip and palate research","volume":"87","author":"A R Vieira","year":"2008","journal-title":"J Dent Res"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1136\/bmj.39458.563611.AE","article-title":"Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives","volume":"336","author":"A Sivertsen","year":"2008","journal-title":"BMJ"},{"issue":"06","key":"ref9","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/ng.580","article-title":"A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4","volume":"42","author":"T H Beaty","year":"2010","journal-title":"Nat Genet"},{"issue":"06","key":"ref10","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1111\/eos.12001","article-title":"Further evidence of association of the ABCA4 gene with cleft lip\/palate","volume":"120","author":"C Fontoura","year":"2012","journal-title":"Eur J Oral Sci"},{"issue":"09","key":"ref11","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1002\/lary.23394","article-title":"Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populations","volume":"122","author":"C J Lennon","year":"2012","journal-title":"Laryngoscope"},{"issue":"09","key":"ref12","doi-asserted-by":"crossref","first-page":"2180","DOI":"10.1002\/ajmg.a.34170","article-title":"Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population","volume":"155A","author":"Y Pan","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"06","key":"ref13","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1002\/ajmg.a.33940","article-title":"Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate","volume":"155A","author":"Q Yuan","year":"2011","journal-title":"Am J Med Genet A"},{"issue":"10","key":"ref14","doi-asserted-by":"crossref","first-page":"1686","DOI":"10.1038\/sj.cdd.4401860","article-title":"Virally mediated MafB transduction induces the monocyte commitment of human CD34+ hematopoietic stem\/progenitor cells","volume":"13","author":"C Gemelli","year":"2006","journal-title":"Cell Death Differ"},{"issue":"01","key":"ref15","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.exphem.2008.08.006","article-title":"Identification of primary MAFB target genes in multiple myeloma","volume":"37","author":"E van Stralen","year":"2009","journal-title":"Exp Hematol"},{"issue":"07","key":"ref16","first-page":"599","article-title":"Guidelines for the tetra-primer ARMS-PCR technique development","volume":"56","author":"R FV Medrano","year":"2014","journal-title":"Mol Biotechnol"},{"issue":"08","key":"ref18","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1016\/j.bjoms.2014.06.003","article-title":"Association study of single nucleotide polymorphisms of MAFB with non-syndromic cleft lip with or without cleft palate in a population in Heilongjiang Province, northern China","volume":"52","author":"N Mi","year":"2014","journal-title":"Br J Oral Maxillofac Surg"}],"container-title":["Indian Journal of Plastic Surgery"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0041-1733809.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,18]],"date-time":"2022-04-18T23:20:50Z","timestamp":1650324050000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0041-1733809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":17,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2022,4,18]]},"published-print":{"date-parts":[[2022,2]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0041-1733809","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0970-0358","1998-376X"],"issn-type":[{"type":"print","value":"0970-0358"},{"type":"electronic","value":"1998-376X"}],"subject":[],"published":{"date-parts":[[2022,2]]}}}