Association between interferon regulatory factor 6 gene polymorphism and non-syndromic oral clefting / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the association between interferon regulatory factor 6 (IRF6) gene polymorphism and non-syndromic oral clefting (NSOC).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>IRF6 gene polymorphism is associated with NSOC.</p>

Association between fibroblast growth factor 3 polymorphism and non-syndromic oral clefting / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the association between fibroblast growth factor 3 (FGF3) gene rs4980700 and rs4631909 polymorphism and non-syndromic oral clefting (NSOC).</p><p><b>METHODS</b>Blood samples from 186 NSOC patients, patients' parents and 200 controls were collected. DNA was extracted and PCR-restriction fragment length polymorphism (PCR-RFLP) was used to identify genotypes of the samples. Case-control analyses and transmission disequilibrium test (TDT) and family based association test (FBAT) analyses were also carried out.</p><p><b>RESULTS</b>In case-control analysis, there were significant differences in rs4980700 genotype and allele among NSOC patients compared with the control group (P < 0.05) and there were significant differences in rs4631909 genotype and allele among NSOC patients compared with the control group (P < 0.05), but no difference in cleft palate only (P = 0.49). In TDT, the G allele of rs4980700 had an overtransmission (P < 0.05) and the C allele of rs4631909 had an overtransmission (P < 0.05) in NSOC. FBAT analysis also showed a significant association between FGF3 gene rs4980700, rs4631909 polymorphism and NSOC.</p><p><b>CONCLUSION</b>FGF3 gene rs4980700 and rs4631909 polymorphism were associated with NSOC.</p>