Baltic Dental and Maxillofacial Journal
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September, 2014, Vol. 16, No. 3

CONTENTS

SCIENTIFIC ARTICLES

Validation of a Latvian and a Russian version of the Oral Health Impact Profile for use among adults
Jolanta Pugaca, Ilga Urtane, Pertti Pirttiniemi, Irena Rogovska
83-86

The relationship between unilateral mandibular angle fracture and temporomandibular joint function
Ausra Baltrusaityte, Algimantas Surna, Gaivile Pileicikiene, Ricardas Kubilius, Alvydas Gleiznys, Juozas Zilinskas
87-93

Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations
Inga Kempa, Laima Ambrozaitytė, Janis Stavusis, Ilze Akota, Biruta Barkane, Astrida Krumina, Aušra Matulevičienė, Algirdas Utkus, Vaidutis Kučinskas, Baiba Lace
94-101

Symmetry of external auditive meatus. A pilot study on human skulls
Simona Mizgiryte, Julius Vaitelis, Arunas Barkus, Linas Zaleckas, Rolandas Pletkus,
Adomas Auskalnis

102-108

REVIEWS

The upper airway dimensions in different sagittal craniofacial patterns: a systematic review
Iveta Indriksone, Gundega Jakobsone
109-117

The complication of oral piercing and the role of dentist in their prevention: a literature review
Cinzia Maspero, Giampietro Farronato, Lucia Giannini, Laima Kairyte, L. Pisani, Guido Galbiati
118-124

© 2014 Stomatologija

Stomatologija 2014; 16 (3): 94-101 390 KB

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

Inga Kempa, Laima Ambrozaitytė, Janis Stavusis, Ilze Akota, Biruta Barkane, Astrida Krumina, Aušra Matulevičienė, Algirdas Utkus, Vaidutis Kučinskas, Baiba Lace

Summary

Cleft 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.

This work was supported by Latvian Science Council grant No. 09.1115 and European Social Fund project No. 2009/0147/1DP/1.1.2.1.2/09/ IPIA/VIAA/009.

Key words: BMP4 gene, non-syndromic clefts, case-control analysis, haplotype analysis, TDT analysis.

Received: 06 11 2013

Accepted for publishing: 26 09 2014


1Scientific Laboratory of Molecular Genetics, Rīga Stradiņš University, Riga, Latvia

2Latvian Biomedical Research and Study Centre, Riga, Latvia

3Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania

4Centre for Medical Genetics at Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania

5Institute of Stomatology, Rīga Stradiņš University, Riga, Latvia

Inga Kempa1. 2 – PhD

Laima Ambrozaitytė3. 4 – PhD

Janis Stavusis2 – scientific assist.

Ilze Akota5 – PhD, M.D.

Biruta Barkane5 – PhD, M.D.

Astrida Krumina2 – Dr. habil., PhD, M.D.

Aušra Matulevičienė3. 4 – PhD, M.D.

Algirdas Utkus3. 4 – PhD, M.D.

Vaidutis Kučinskas3. 4 – Dr. habil., PhD

Baiba Lace2 – PhD, M.D.

Address correspondence to Dr. Inga Kempa, Scientific Laboratory of Molecular Genetics, Rīga Stradiņš University, Dzirciema street 16, LV-1007, Riga, Latvia.

E-mail address: inga.kempa@rsu.lv