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Niktabar, S., Amooee, A., Piroozmand, P., Farahnak, S., Foroughi, E., Nasiri, R., Latifi, S., Neamatzadeh, H. (2018). Association between IRF6 rs642961 Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate Risk in an Iranian Population. Shahid Sadoughi University of Medical Sciences- Journal Management System, 1(1), 30-35. doi: 10.18502/wjpn.v1i1.2783
Seyed Mohammadreza Niktabar; Abdolhamid Amooee; Parisa Piroozmand; Soudabeh Farahnak; Elnaz Foroughi; Rezvan Nasiri; Seyed Mojtaba Latifi; Hossein Neamatzadeh. "Association between IRF6 rs642961 Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate Risk in an Iranian Population". Shahid Sadoughi University of Medical Sciences- Journal Management System, 1, 1, 2018, 30-35. doi: 10.18502/wjpn.v1i1.2783
Niktabar, S., Amooee, A., Piroozmand, P., Farahnak, S., Foroughi, E., Nasiri, R., Latifi, S., Neamatzadeh, H. (2018). 'Association between IRF6 rs642961 Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate Risk in an Iranian Population', Shahid Sadoughi University of Medical Sciences- Journal Management System, 1(1), pp. 30-35. doi: 10.18502/wjpn.v1i1.2783
Niktabar, S., Amooee, A., Piroozmand, P., Farahnak, S., Foroughi, E., Nasiri, R., Latifi, S., Neamatzadeh, H. Association between IRF6 rs642961 Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate Risk in an Iranian Population. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2018; 1(1): 30-35. doi: 10.18502/wjpn.v1i1.2783

Association between IRF6 rs642961 Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate Risk in an Iranian Population

Journal of Integrated Maternal and Pediatric Care
Volume 1, Issue 1, July 2018, Pages 30-35    PDF (562.83 K)
DOI: 10.18502/wjpn.v1i1.2783
Authors
Seyed Mohammadreza Niktabar1; Abdolhamid Amooee* 2; Parisa Piroozmand3; Soudabeh Farahnak4; Elnaz Foroughi5; Rezvan Nasiri6; Seyed Mojtaba Latifi7; Hossein Neamatzadeh8
1Department of Surgery, Division of Plastic and Reconstructive Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Department of Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Department of Oral and Maxillofacial Medicine, Dental School, Ardabil University of Medical Sciences, Ardabil, Iran
4Department of Endodontic, Arak University of Medical Sciences, Arak, Iran
5Pediatric Dentistry, Dental School, Arak University of Medical Sciences, Arak, Iran
6Departments of Restorative and Esthetic, Arak University of Medical Sciences, Arak, Iran
7Department of Medical Genetics, Kashan University of Medical Sciences, Kashan, Iran
8Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Abstract
Background: The extent of the contribution of rs642961 polymorphism of interferon regulatory factor-6 (IRF6) gene with susceptibility to the syndromic cleft lip with or without cleft palate (NSCL/P) in the Iranian patients is still unknown. Thus, to test the role of IRF6 in NSCL/P susceptibility in an Iranian population, we performed a population based case-control stud.
 
Methods: One-hundred ten patients with NSCL/P and 110 matched healthy subjects were recruited to this population-based study. The IRF6 rs642961 polymorphism was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.
 
Results: Participants did not differ significantly by age and gender
(P > 0.05). The AA, AG, and GG genotypes frequencies of the IRF6 rs642961 polymorphism in the NSCL/P cases were 27.3%, 53.6% and 19.1%, respectively while the corresponding frequencies in the healthy subjects were 34.5, 56.4% and 9.1%, respectively. There was a significant association between homozygote mutant genotype (GG) of IRF6 rs642961 polymorphism and increased risk of NSCL/P (OR = 2.360, 95% CI 1.055-5.280, P = 0.037).
 
Conclusion: the current study suggested that IRF6 rs642961 polymorphism might be associated with susceptibility to NSCL/P in an Iranian population. However, well-designed epidemiological studies with larger sample size are needed to further validate our results.
Keywords
Nonsyndromic; Cleft lip; Cleft palate; Interferon regulatory factor 6; Polymorphism
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