Cleft lip and/or palate genetic conditioning – is MMP2 gene polymorphism important for this defect development?

1 Department of General, Medical Biology at the Medical University of Silesia, School of Medicine with the Division of Dentistry in Zabrze, Poland. Head: Professor Andrzej Wiczkowski, MD, PhD
2 Department of Temporomandibular Joint Dysfunction and Orthodontics, Medical University of Silesia, School of Medicine with the Division of Dentistry in Zabrze, Poland. Head: Professor Stefan Baron, MD, PhD
3 Department of Craniomaxillofacial and Oral Surgery at the Medical University of Silesia, School of Medicine with the Division of Dentistry in Zabrze, Poland. Head: Iwona Niedzielska, MD, PhD
Correspondence: Marzena Zalewska-Ziob, MD, PhD, Department of General, Medical Biology at the Medical University of Silesia, School of Medicine with the Division of Dentistry in Zabrze,
Jordana 19, 41-808 Zabrze, Poland

Pediatr Med Rodz Vol 10 Numer 3, p. 306–314
DOI: 10.15557/PiMR.2014.0033
ABSTRACT

Introduction: Cleft lip/palate is one of the most common congenital malformations. In Poland, approximately 500 children with an orofacial cleft are born every year. Matrix metalloproteinases are involved in periodontal tissue remodelling and degradation. Polymorphisms in the promoter region of the MMP2 gene may affect transcription and activity of the protein produced by this gene. The aim of the study was to examine 1306 C/T MMP2 gene promoter polymorphisms in the group of children with cleft lip/palate and in the control group as well as to determine the frequency of individual genotypes in different types of orofacial clefts. Material and methods: The study was conducted in the group of 150 children with cleft lip/palate and 102 children without an orofacial cleft. Genomic DNA was obtained from oral mucosa epithelium. The MMP2 gene promoter polymorphism was genotyped by tetra-primer ARMS-PCR. Results: There are no significant differences in the frequency of individual alleles in different types of orofacial clefts. The occurrence of the CC genotype was significantly higher in the group with cleft lip and palate than in the healthy group (p = 0.005). Conclusion: Determining the polymorphism of matrix metalloproteinase gene promoter sequence can contribute to the elucidation of cleft lip/palate aetiopathogenesis.

Keywords: cleft lip and/or palate, matrix metalloproteinase 2, MMP2 gene promoter polymorphism