MSX1 Gene Polymorphisms in Patients with non-Syndromic Cleft lip and Palate: A Tertiary Care Centre Based Case-Control Study from Central Kerala.

OBJECTIVE: The purpose of this study was to investigate the contribution of MSX1 gene polymorphisms to the risk of developing NSCLP. DESIGN: Case-Control Study. SETTING: A tertiary care centre. PATIENTS/PARTICIPANTS: The sample consisted of 200 subjects (100 cases and 100 controls). INTERVENTIONS: None. MAIN OUTCOME MEASURE(S): Genotyping was performed by restriction fragment length polymorphism. Allele and genotype frequencies were calculated between patients and controls and analyzed using online Web Tools such as SISA and SNPstats. The MSX1 gene polymorphisms c. 799 GT, c.458 CA can be risk factors in the development of orofacial clefts. RESULTS: In the cases, an association was found between NSCLP and c.799 and c.458 of the MSX1 gene when compared with the control. The dominant and overdominant models, c. 799 GT, c.458 CA genotypes and c. 799 T, c.458 A alleles in the population are said to be the main risk factors to develop the NSCLP in our study population. The genotype variation of c 799 G/T and c.458 C/A are revealed to be specifically contributing to an NSCLP-type Cleft lip and Palate. It is worth noting that NSCLP females in the study population showed a stronger association with heterozygous genotypes of c.799 and c.458. However, further investigation with a larger cohort is necessary to confirm these findings. CONCLUSION: Overall the results of the study revealed that MSX1 c 799 G > T and c.458 C > A can be considered as one of the genetic risk factors in the formation of Non-Syndromic Cleft Lip and Palate in the study population.