Association of CRISPLD2 Single Nucleotide Gene Polymorphism and Non-Syndromic Cleft Lip With or Without Cleft Palate in an Iranian Population

Non-syndromic cleft lip with or without cleft palate is a malformation that may occur sporadically or with familial aggregation. Its inheritance is complex and many studies have focused on the role of genetics in the etiology of NSCL/P. rs1546124 is one of the most investigated polymorphims of the CRISPLD2 gene. This study aimed to investigate the association between CRISPLD2 rs1546124 gene polymorphism and the incidence of NSCL/P in Iranian population.

 In this case-control study, 81 case-parent trio cases have been included. All cases of congenital anomalies and major developmental problems were excluded to select only those with a NSCL/P. 5 ml of peripheral blood was taken from all subjects. PCR and electrophoresis were performed to demonstrate genotype status in each group. For evaluating the probability of transfer from parents to children transmission disequilibrium was performed.

 The highest frequency of genotype in all three is related to CG and the highest allele frequency is related to C allele. The results of transmission disequilibrium showed that the probability of transfer from parents to children is not significant (P=0.38) and the risk of allelic transmission from each parent (with OR near 1) is not significant.

 This study did not find any association between CRISPLD2 and NSCL/P. Further studies with adequate sample size should be designed to investigate for possible polymorphisms in Iranian population.