Abstract :
Background: Cleft lip and palate are congenital disorders which induce affected individuals medically,
socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide
Polymorphism(SNP); rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate.
Materials and Methods: Fifty patients with non-syndromic CL/P were included in present study alongwith
fifty individuals with no psychiatric history as controls. In all of the these individuals, search for Single
nucleotide polymorphism was carried out by designing sequence specific primers. The sequence was amplified
by using Real time PCR and products were investigated by visualizing high resolution melting curve upon
HRM-PCR.
Results: The logistic regression and Hardy-Weinberg equilibrium were applied to investigate the association
of IRF6 SNP rs2013162 with disease. Results revealed no association of this polymorphism with nonsyndromic
CL/P.
Conclusion: We found no association of IRF6 SNP rs2013162 in patients with non-syndromic CL/P. Further
study is required with larger sample size to validate the findings of the present study in Pakistani population
and along with this SNP other polymorphisms of the same gene should be analyzed to find out the association
with the non-syndromic CL/P.
Keyword :
Interferon regulatory factor-6 (IRF6) Gene, Single nucleotide polymorphism, Non-syndromic Cleft Lip and Palate