Ren Hong-wang, Zhao Gui-zhi, Huang Yong-qing, Ma Min, Ma Jian, Sun Yan-bo, Gao Jun, Shi Bing
Dept. of Oral and Maxillofacial Surgery, College of Stomatology, Ningxia Medical University, Yinchuan 750004, China.
Hua Xi Kou Qiang Yi Xue Za Zhi. 2010 Aug;28(4):352-5, 360.
To investigate the association between interferon regulatory factor 6 (IRF6) gene polymorphism and non-syndromic oral clefting (NSOC).
Experimental group consisted of 186 Ningxia NSOC patients, their parents (183 fathers and 174 mothers), 172 core families (patient+parents), and control group consisted of 200 normal children. DNA was extracted and PCR-restriction fragment length polymorphism (PCR-RFLP) was used to identify the genotypes of the samples, case-control analyses and transmission-disequilibrium test (TDT) were carried out.
Compared with control group, there were significant differences in both rs642961's and rs4844880's AA genotype and A allele among NSOC patients (P < 0.05), but no difference in cleft palate (P = 0.15, P = 0.967, respectively). In TDT analysis, the A allele of rs642961 had a strong over-transmission in NSOC (P < 0.05), so did the rs4844880'A allele (P < 0.05), but neither of them had significant difference in cleft palate (P = 0.91, P = 0.95, respectively).
IRF6 gene polymorphism is associated with NSOC.
