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[Significant association between nonsyndromic cleft lip with or without cleft palate and IRF6rs2235371 polymorphism
F Jafary1,2, Z Nadeali3, M Salehi4
1Pediatric Inherited Disease Research Center (PIDRC), Isfahan University of Medical Sciences, Isfahan, Iran.
Abstract:
According to previous studies the IRF6rs2235371 polymorphism is a risk factor for NSCL/P in different populations. However our recent study revealed no correlation between IRF6rs642961 and NSCL/P in our population. In the present study we have investigated the relationship between IRF6rs2235371 and NSCL/P in same group to determine whether IRF6rs2235371 is a risk factor in our population as well. We analyzed the IRF6rs2235371 genotype in a subset of the Iranian population using the Polymerase Chain Reaction technique. The PCR products were digested with DpnII. Chi-square test was applied to analyze the obtained result. The patients were supplied by the Cleft Lip and Palate Clinic of the Isfahan University of Medical Science. A clinician ascertained the non-syndromic status of all patients and that no clefting drugs, ethanol or smoking were abused during pregnancy. The control group was selected from unaffected subjects with no history of NSCL/P in their families. 107 patients from 107 Iranian unrelated families and 100 controls were screened. There was a significant association between the IRF6rs2235371 genotype sand an increased NSCL/P risk. Our data indicates that the IRF6rs2235371 variation can increase the risk of NSCL/P in the Iranian population. This result is in contrast with the results of our recent study on the correlation between the IRF6rs642961 polymorphism and NSCL/P in the same group.
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