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Stomatologija 2014; 16 (4): 132-6 369 KB

IRF6 AP-2a binding site promoter polymorphism is associated with oral clefts in Latvia

Kristīne Krasone, Baiba Lāce, Ilze Akota, Rūta Care, Kathleen Deeley,
Erika C. Küchler, Alexandre R. Vieira

Summary

Objective. To evaluate the association between AXIN2, CDH1 and IRF6 with oral clefts in a cohort from Latvia.

Material and methods. 283 unrelated individuals, 93 born with isolated oral clefts and 190 individuals born without any structural abnormalities were evaluated. Cleft type and dental anomalies outside the cleft area were determined by clinical examination. Four SNPs were selected for this study: rs2240308 and rs11867417 in AXIN2; rs9929218 in CDH1; and rs642961 in IRF6. Genotypes were determined by polymerase chain reaction using the Taqman assay method from a genomic DNA sample extracted from whole blood. Allele and genotype frequencies were compared between individuals born with or without oral clefts using the PLINK program.

Results. Tooth agenesis was the most frequent dental anomaly found among individuals born with oral clefts (N=10; frequency 10.8%). The allele A in the IRF6 marker rs642961 was associated with all combined types of oral clefts (OR=1.74; CI 95% 1.07-2.82) and with cases with cleft lip with or without cleft palate (OR=1.88, CI 95% 1.15-3.01; p=0.007).

Conclusions. The IRF6 AP-2a binding site promoter polymorphism is associated with isolated oral clefts in Latvia.

Key words: axis inhibition protein 2, E-cadherin, interferon regulatory factor 6, dental anomalies, cleft lip with or without palate.

Received: 14 01 2014

Accepted for publishing: 20 12 2014

¹Department of Pediatric Dentistry, Riga Stradins University, Riga , Latvia

²Latvian Biomedical Research and Study Centre, Riga, Latvia

³Department of Maxillofacial Surgery; Riga Celft lip and Palate Center, Riga Stradins University, Riga, Latvia

⁴Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA

⁵Department of Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA

Kristīne Krasone¹ – D.D.S., PhD student

Baiba Lāce² – M.D., MSc, Dr. Med.

Ilze Akota³ – D.D.S., MSc (Oslo), Dr.Med., Prof.

Rūta Care¹ – D.D.S., Dr. Med., Prof.

Kathleen Deeley⁴ – MSc, Research Specialist

Erika C. Küchler⁴ – D.D.S., MSc, PhD

Alexandre R. Vieira^{4, 5} – D.D.S., MSc, PhD., Assoc.Prof.

Address correspondence to Dr. Kristīne Krasone: Department of Pediatric Dentistry, Institute of Stomatology, Dzirciema 20, Riga LV1007, Latvia.

E-mail address: kristine.krasone@inbox.lv



	Baltic Dental and Maxillofacial Journal

December, 2014, Vol. 16, No. 4 CONTENTS REVIEWS Hemophilia and oral health Ruta Zaliuniene, Vytaute Peciuliene, Vilma Brukiene, Jolanta Aleksejuniene 127-131 SCIENTIFIC ARTICLES IRF6 AP-2a binding site promoter polymorphism is associated with oral clefts in Latvia Kristīne Krasone, Baiba Lāce, Ilze Akota, Rūta Care, Kathleen Deeley, Erika C. Küchler, Alexandre R. Vieira 132-136 Mandibular morphology in monozygotic twins: a cephalometric study Mantas Šidlauskas, Loreta Šalomskienė, Irena Andriuškevičiūtė, Monika Šidlauskienė, Žygimantas Labanauskas, Antanas Šidlauskas 137-143 Quality management and job related factors predicting satisfaction of dental clinic staff in Estonia Eda Merisalu, Georg Männik, Kaja Põlluste 144-152 REVIEWS Biologically active substances in bone morphogenesis. Literature review Stasys Bojarskas, Regimantas Simuntis 153-160 © 2014 Stomatologija		Stomatologija 2014; 16 (4): 132-6 369 KB IRF6 AP-2a binding site promoter polymorphism is associated with oral clefts in Latvia Kristīne Krasone, Baiba Lāce, Ilze Akota, Rūta Care, Kathleen Deeley, Erika C. Küchler, Alexandre R. Vieira Summary Objective. To evaluate the association between AXIN2, CDH1 and IRF6 with oral clefts in a cohort from Latvia. Material and methods. 283 unrelated individuals, 93 born with isolated oral clefts and 190 individuals born without any structural abnormalities were evaluated. Cleft type and dental anomalies outside the cleft area were determined by clinical examination. Four SNPs were selected for this study: rs2240308 and rs11867417 in AXIN2; rs9929218 in CDH1; and rs642961 in IRF6. Genotypes were determined by polymerase chain reaction using the Taqman assay method from a genomic DNA sample extracted from whole blood. Allele and genotype frequencies were compared between individuals born with or without oral clefts using the PLINK program. Results. Tooth agenesis was the most frequent dental anomaly found among individuals born with oral clefts (N=10; frequency 10.8%). The allele A in the IRF6 marker rs642961 was associated with all combined types of oral clefts (OR=1.74; CI 95% 1.07-2.82) and with cases with cleft lip with or without cleft palate (OR=1.88, CI 95% 1.15-3.01; p=0.007). Conclusions. The IRF6 AP-2a binding site promoter polymorphism is associated with isolated oral clefts in Latvia. Key words: axis inhibition protein 2, E-cadherin, interferon regulatory factor 6, dental anomalies, cleft lip with or without palate. Received: 14 01 2014 Accepted for publishing: 20 12 2014 ¹Department of Pediatric Dentistry, Riga Stradins University, Riga , Latvia ²Latvian Biomedical Research and Study Centre, Riga, Latvia ³Department of Maxillofacial Surgery; Riga Celft lip and Palate Center, Riga Stradins University, Riga, Latvia ⁴Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA ⁵Department of Pediatric Dentistry, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA, USA Kristīne Krasone¹ – D.D.S., PhD student Baiba Lāce² – M.D., MSc, Dr. Med. Ilze Akota³ – D.D.S., MSc (Oslo), Dr.Med., Prof. Rūta Care¹ – D.D.S., Dr. Med., Prof. Kathleen Deeley⁴ – MSc, Research Specialist Erika C. Küchler⁴ – D.D.S., MSc, PhD Alexandre R. Vieira^{4, 5} – D.D.S., MSc, PhD., Assoc.Prof. Address correspondence to Dr. Kristīne Krasone: Department of Pediatric Dentistry, Institute of Stomatology, Dzirciema 20, Riga LV1007, Latvia. E-mail address: kristine.krasone@inbox.lv