Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations

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dc.contributor.authorKempa, Inga
dc.contributor.authorAmbrozaitytė, Laima
dc.contributor.authorStavusis, Janis
dc.contributor.authorAkota, Ilze
dc.contributor.authorBarkane, Biruta
dc.contributor.authorKrumina, Astrida
dc.contributor.authorMatulevičienė, Aušra
dc.contributor.authorUtkus, Algirdas
dc.contributor.authorKučinskas, Vaidutis
dc.contributor.authorLace, Baiba
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.contributor.institutionRīga Stradiņš University
dc.date.accessioned2021-08-05T10:30:01Z
dc.date.available2021-08-05T10:30:01Z
dc.date.issued2014
dc.description.abstractCleft lip with or without cleft palate (CLP and CL, respectively) and isolated cleft palate (CP) represent one of the most common human birth defects, with a prevalence of approximately 1 in 300-2500 depending on the population. Formation of non-syndromic CL/CLP and CP arises from the interaction of environmental and genetic factors. The objective of this study was to investigate the association between the BMP4 gene (encoding bone morphogenetic protein 4) and non-syndromic CL/CLP and CP in order to clarify the role of this gene in the aetiology of the malformation in Latvian and Lithuanian populations. We genotyped three markers of the BMP4 gene (rs17563, rs2071047 and rs1957860) in order to perform single marker and haplotype association analyses for Latvian and Lithuanian non-syndromic CL/CLP and CP patients and controls. Transmission disequilibrium test was also conducted for Latvian and Lithuanian proband-parent trios. The case-control analysis revealed that SNP rs2071047 allele A was associated with a decreased risk of CL/CLP in the Latvian population, which was confirmed by the haplotype analysis. A modest association was detected between SNP rs1957860 and CP in the Lithuanian population, where allele C was associated with a decreased risk of this cleft phenotype, corroborating haplotype analysis data. Our findings support a role of the BMP4 gene in the aetiology of non-syndromic CL/CLP and CP in the studied populations.en
dc.description.statusPeer reviewed
dc.format.extent8
dc.format.extent395884
dc.identifier.citationKempa, I, Ambrozaitytė, L, Stavusis, J, Akota, I, Barkane, B, Krumina, A, Matulevičienė, A, Utkus, A, Kučinskas, V & Lace, B 2014, 'Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations', Stomatologija / issued by public institution "Odontologijos studija" ... [et al.], vol. 16, no. 3, pp. 94-101.
dc.identifier.issn1392-8589
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/5959
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=84965090741&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofStomatologija / issued by public institution "Odontologijos studija" ... [et al.]
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBMP4 gene
dc.subjectnon-syndromic clefts
dc.subjectcase-control analysis
dc.subjecthaplotype analysis
dc.subjectTDT analysis
dc.subject3.1 Basic medicine
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectGeneral Medicine
dc.titleAssociation of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populationsen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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