Investigation of the SNPs of IRF6 gene in non-syndromic cleft lip and/or palate (NSCLP) in a Turkish population

Öz

Objective Non-syndromic cleft lip and/or palate (NSCLP) is a complex malformation with both genetic and environmental effects and interferon regulatory factor 6 (IRF6) is the most focused gene to unravel the genetic etiology of the disease since its important role in the formation and maintenance of the oral periderm to ensure appropriate palatal adhesion has been demonstrated. The aim of this study was to investigate the association between two SNPs (rs2235371 and rs2013162) of IRF6 gene and NSCLP in Turkish population. Materials and Methods Genotyping of both SNPs were performed with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism method in 38 NSCLP patients, their mothers and the same number of healthy control individuals. Results Our results did not indicate significant differences in neither genotypic nor allelic distributions between children and controls. The same situation was observed when the mothers of children were also compared with the controls. Conclusion Considering both contradictive results in different populations worldwide and our relatively small sample size that may be a limitation for this study, we strongly encourage the replication studies with larger sample sizes to draw a precise conclusion about the role of IRF6 gene variants for susceptibility to NSCLP.

Anahtar Kelimeler

• cleft lip
• cleft palate
• interferon regulatory factor 6 (IRF6) gene

Investigation of the SNPs of IRF6 gene in non-syndromic cleft lip and/or palate (NSCLP) in a Turkish population

Öz

Amaç Non-sendromik dudak ve/veya damak yarığı (NSDDY) hem genetik hem de çevresel etkilere sahip kompleks bir malformasyondur ve uygun palatal adezyonu sağlamak için oral periderm oluşumu ve devamlılığındaki önemli rolünden dolayı IRF6 hastalığın genetik etiyolojisini çözmek için üzerinde en çok yoğunlaşılmış gendir. Bu çalışmanın amacı, Türk popülasyonunda IRF6 genindeki iki SNP (rs2235371 ve rs2013162) ile NSDDY arasındaki ilişkiyi araştırmaktır. Gereç ve Yöntemle Her iki SNP’nin genotiplemesi, Polimeraz Zincir Reaksiyonu-Restriksiyon Fragment Uzunluk Polimorfizmi yöntemi ile 38 NSDDY hastasında, annelerinde ve aynı sayıda kontrol grubu bireylerde yapıldı. Bulgular: Sonuçlarımız, çocuklar ve kontroller arasında ne genotipik ne de allelik dağılımlarda önemli farklılıklar belirtmedi. Aynı durum çocukların anneleri ile kontroller karşılaştırıldığında da gözlendi. Bulgular Çalışmaya toplam 154 hasta dahil edildi. Alt gastrointestinal sistem ve özofagus varis kanaması olan hastalar çalışma dışı bırakıldı. Üst gastrointestinal sistem kanaması ile başvuran hastaların 28%’i kadın, 72%’si erkekti. Hastaların yaş ortalaması 61.23±15.37 yıl saptandı. Forrest endoskopik sınıflamasına göre erkeklerde 5 hasta (4.50%) derece Ia, 15 hasta (13.51%) derece Ib, 13 hasta (11.71%) derece IIa, 9 hasta (8.11%) derece IIb, 69 hasta (62.16%) kadınlarda evre III, 3 hastada (6.98%) evre Ia, 8 hastada (18.60%) evre Ib, 4 hastada (9.30%) evre IIb ve 28 hastada (65.12%) evre III saptandı. Bu hastaların ortalama hastanede kalış süreleri 8.20±4.42 gündü. 7 hastada (4.54%) 30 günlük mortalite saptandı. Sonuç Hem dünya çapındaki farklı popülasyonlardaki çelişkili sonuçlar hem de bu çalışma için bir sınırlama olabilecek nispeten küçük örneklem büyüklüğümüz göz önüne alındığında, NSDDY’ye yatkınlık oluşturmada IRF6 gen varyantlarının rolü hakkında kesin bir sonuç çıkarabilmek için daha büyük örneklem boyutlarına sahip replikasyon çalışmalarını güçlü bir şekilde desteklemekteyiz.

Anahtar Kelimeler

• cleft lip
• cleft palate
• interferon regulatory factor 6 (IRF6) gene

Kaynakça

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