Family-Based Association Analysis Between Nonsyndromic Cleft Lip With or Without Cleft Palate and Irf6 Polymorphism in an Iranian Population Publisher Pubmed



Nouri N^{1, 2} ; Memarzadeh M^{2, 3} ; Carinci F⁴ ; Cura F⁵ ; Scapoli L⁵ ; Nouri N^{1, 2} ; Jafary F⁶ ; Sedghi M¹ ; Sadri L⁷ ; Salehi M^{1, 8} Show Affiliations
Source: Clinical Oral Investigations Published:2015

Abstract

Objectives: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect which is strongly associated with genetic factors. Previous studies in several populations showed a significant correlation between IRF6 rs642961 polymorphism and NSCL/P. The aim of this study is to indicate the correlation of IRF6 rs642961 polymorphism and NSCL/P in Iranian NSCL/P families.Material and methods: In this study, we analyzed IRF6 rs642961 genotype in 352 individuals from 102 Iranian nuclear families affected by NSCL/P using iPlex assay on a Sequenom MassARRAY platform. Hardy–Weinberg equilibrium and Mendelian error checking were performed by Haploview 4.2. Allelic association analysis was conducted with family-based association tests implemented in FBAT program v2.03.Results: The family-based association analysis revealed no significant association between IRF6 rs642961 genotypes and an increased NSCL/P risk.Conclusions: In contrast to other Asian populations, our study indicates that the IRF6 rs642961 polymorphism cannot be a risk factor for NSCL/P in an Iranian population.Clinical relevance: Genetic factors have an important role in NSCL/P, among which interferon regulatory factor 6 (IRF6) has been reported as a risk factor for NSCL/P in several populations; however, our data indicated no significant association between IRF6 polymorphism and NSCL/P in an Iranian population. © 2014, Springer-Verlag Berlin Heidelberg.