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

• Main Authors: Marzena Zalewska-Ziob, Brygida Adamek, Jolanta Kasperczyk, Dorota Łyko, Anna Płachetka, Marek Rokicki, Agnieszka Machorowska-Pieniążek, Stefan Baron, Iwona Niedzielska, Andrzej Wiczkowski
• Format: Article
• Language: English
• Published: Medical Communications Sp. z o.o. 2014-09-01
• Series: Pediatria i Medycyna Rodzinna
• Subjects: cleft lip and/or palate; matrix metalloproteinase 2; MMP2 gene promoter polymorphism
• Online Access: http://www.pimr.pl/index.php/issues/2014-vol-10-no-3/cleft-lip-and-or-palate-genetic-conditioning-is-mmp2-gene-polymorphism-important-for-this-defect-development?aid=707
• ISSN: 1734-1531; 2451-0742

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.