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01-05-2015 | Original Article

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population

Authors: Nayereh Nouri, Mehrdad Memarzadeh, Francesco Carinci, Francesca Cura, Luca Scapoli, Narges Nouri, Fariba Jafary, Maryam Sedghi, Leyli Sadri, Mansoor Salehi

Published in: Clinical Oral Investigations | Issue 4/2015

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.

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Title: Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population
Authors: Nayereh Nouri
Mehrdad Memarzadeh
Francesco Carinci
Francesca Cura
Luca Scapoli
Narges Nouri
Fariba Jafary
Maryam Sedghi
Leyli Sadri
Mansoor Salehi
Publication date: 01-05-2015
Publisher: Springer Berlin Heidelberg
Published in: Clinical Oral Investigations / Issue 4/2015
Print ISSN: 1432-6981
Electronic ISSN: 1436-3771
DOI: https://doi.org/10.1007/s00784-014-1305-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population

Abstract

Objectives

Material and methods

Results

Conclusions

Clinical relevance

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objectives

Material and methods

Results

Conclusions

Clinical relevance

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