Objective To reveal the association between the single nucleotide polymorphism (SNP) of v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) gene rs17820943 locus and non-syndromic cleft l ip with or without cleft palate (NSCL/P) in the southern Chinese Han population. Methods Genotyping of MAFB gene rs17820943 polymorphism was carried out in 300 patients with NSCL/P, 354 normal controls, and an additional 168 case-parent trios with matrix-assisted laser desorption/ionisation time-of-fl ight (MALDI-TOF) mass spectrometry. Then based on the genotypingresults, both a case-control association study and a case-parent trio association study were performed. Results Significant differences were found in the allele and genotype frequencies of rs17820943 locus between case and control groups (Pallele=0.001 and Pgenotype=0.002, respectively). To be specific, the odds radio (OR) values and 95% confidence interval (95%CI) of allele T (frequencies of cases ∶ controls = 0.358 ∶ 0.448) and genotype TT (frequencies of cases ∶ controls = 0.110 ∶ 0.195) were ORT = 0.69 (95%CI: 0.55-0.86) and ORTT = 0.43 (95%CI: 0.26-0.70), respectively. Subsequent case-parent trio analysis also indicated an association between MAFB rs17820943 variant and the risk of NSCL/P (ORT vs. C = 0.55, 95%CI: 0.41-0.75, P value of transmission disequilibrium test was 0.000). Conclusion Polymorphism of MAFB gene rs17820943 locus is associated with NSCL/P in the southern Chinese Han population; MAFB rs17820943 variant may be a susceptible gene of NSCL/P.
The present study was aimed to explore the relationship of transforming growth factor (TGF) β3 gene SfaNI polymorphism (rs3917201 locus) and non-syndromic cleft lip with or without cleft palate (NSCL/P) in people of the Uygur's Nationality and Han's in Xinjiang, China. TGFβ3 gene fragment including SfaNI was amplified and purified as the template of the primer extension reaction thenafter. The single base extension reaction was carried out using SNP specific extension primer. The products were purified and analyzed by MALDI-TOF. The test showed that there were not significantly different frequencies of AA, AG, GG genotypes and alleles between the whole NSCL/P group and the whole control group (P>0.05).Within the Uygurs or Hans, the frequencies of genotypes between the whole NSCL/P group and the whole control group were not significantly different(P>0.05). The distributions of the A, G alleles between the NSCL/P group and the control group were not significantly different within the Uygurs (P>0.05), but significant different within the Hans (P<0.05). In all the NSCL/P patients, frequencies of genotypes and alleles were not significantly different between Uygurs and Hans (P>0.05), and not significantly (P>0.05) either between Uygurs and Hans in all the healthy persons. The results proved that TGFβ3 gene SfaNI polymorphism may not be related to NSCL/P in Xinjiang Uygur people, while the occurrence of NSCL/P in Han population may be related to frequency of the A and G allele of SfaNI polymorphism.
ObjectiveTo study the inhibitory effect of Sommerlad technique on the growth of the maxilla by comparing the wound healing between Sommerlad and Von Langenbeck techniques in repair of isolated cleft palate. MethodsA retrospective cohort study was conducted on 54 patients with isolated cleft palate who received palatoplasty with levator veli palatini retropositioning according to Sommerlad between June 2005 and August 2011 as trial group;89 cleft patients received Von Langenbeck technique repair between June 2003 and September 2006 as control group.There was no significant difference in gender and age between 2 groups (P>0.05).The operation time,intraoperative blood loss,body temperature,and fever were recorded and compared;the wound healing was observed,and the palatal mucosa was graded according to Karsten standard. ResultsThe operation time of trial group [(72.2±5.5) minutes] was significantly longer than that of control group [(58.1±6.8) minutes] (t=4.494,P=0.000);the intraoperative blood loss of trial group [(18.6±6.5) mL] was significantly less than that of control group [(34.2±10.2) mL] (t=2.447,P=0.000).Within postoperative 48 hours,the highest body temperature was 36.6-37.6℃(mean,36.9℃) in trial group,and was 36.8-38.2℃(mean,37.3℃) in control group;fever occurred in 5 patients (9.3%) of trial group and 21 patients (23.6%) of control group,showing significant difference (χ2=4.640,P=0.030).The patients were followed up 3-18 months (mean,9 months) in the trial group,and 3-6 years (mean,4 years) in the control group.Scar was rated as level 0,level 1,and level 2 in 38,13,and 3 cases of trial group,and in 6,35,and 48 cases of control group,showing significant difference (Z=-7.785,P=0.000). ConclusionThe isolated cleft palate repair using Sommerlad technique has the advantages of less injury and less scar tissue,indicating no inhibitory effect on the growth of the maxilla.
ObjectiveTo systematically review the correlation between the T538C polymorphism in bone morphogenetic protein 4 (BMP-4) and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). MethodsWe electronically searched databases including PubMed, The Cochrane Library, EMbase, CBM, CNKI, VIP, and WanFang Data from inception to November 2014, to collect case-control studies of the correlation between the T538C polymorphism in BMP-4 and the risk of NSCL/P. Two reviewers independently screened literature according to the inclusion and exclusion criteria, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was performed using RevMan 5.2 software. ResultsA total of 6 case-control studies involving 926 cases and 1 110 controls were included. The results of meta-analysis showed that:there was no significant association between the T538C polymorphism in BMP-4 gene and the risk of NSCL/P (C vs. T:OR=1.14, 95% CI 0.78 to 1.66; CC vs. TT:OR=0.75, 95% CI 0.50 to 1.11; CC vs. TT:OR=1.53, 95% CI 0.69 to 3.37; CC vs. CT+TT:OR=1.80, 95% CI 0.96 to 3.38; CC+CT vs. TT:OR=0.90, 95% CI 0.57 to 1.43). Subgroup analysis based on ethnicity showed that, the T538C polymorphism in BMP-4 gene was associated with increased risk of NSCL/P in Asian population (C vs. T:OR=1.54, 95% CI 1.26 to 1.87; CC vs. TT:OR=2.91, 95% CI 1.88 to 4.52; CC vs. CT+TT:OR=2.99, 95% CI 1.99 to 4.49), but decreased risk of NSCL/P in Latin populations (C vs. T:OR=0.69, 95% CI 0.50 to 0.96; CT vs. TT:OR=0.52, 95% CI 0.40 to 0.68; CC+CT vs. TT:OR=0.52, 95% CI 0.35 to 0.78). ConclusionAvailable evidence suggests that the T538C polymorphism in BMP-4 gene may be associated with increased risk of NSCL/P in Asians and decreased risk of NSCL/P in Latinas. Due to limited quality and quantity of the included studies, more high quality studies are needed to verify the above conclusion.
Objective To investigate the correlation between down-regulation of miR-381-3p and inhibition of osteogenic differentiation of mouse embryonic palatal mesenchymal (MEPM) cells in 2, 3, 7, 8-tetrachlorodibenzo-p-dioxin (TCDD)-induced cleft palate of fetal mice. Methods Thirty-two pregnant mice were randomly divided into TCDD group and control group, 16 in each group. On embryonic day 10.5 (E10.5), the pregnant mice in TCDD group were orally administrated with TCDD at dosage of 28 μg/kg, while the pregnant mice in control group received equivalent corn oil. The pregnant mice in each group were sacrificed on E13.5 and E14.5, fetal palates were collected for analysis. The expression of miR-381-3p was detected by real-time fluorescent quantitative PCR and the protein expressions of runt- related transcription factor 2 (RUNX2) and osteopontin (OPN) were detected by Western blot. MEPM cells were extracted from fetal palates on E14.5 in control group and passaged. The 3rd passage cells were cultured with TCDD at dosage of 10 nmol/L for 0, 0.5, 1, 2, and 3 days. The expression of miR-381-3p was detected after 0, 0.5, 1, 2, and 3 days and the protein expressions of RUNX2 and OPN were detected after 0, 1, 2, and 3 days. Then, the 3rd passage cells were divided into 4 groups. The MEPM cells were transfected with miR-381-3p inhibitor (inhibitor group), NC inhibitor (NC inhibitor group) and miR-381-3p mimics (mimics group), NC mimics (NC mimics group) for 48 hours, respectively. And the expressions of miR-381-3p and the protein expressions of RUNX2 and OPN were detected. Results On E13.5 and E14.5, 96 fetal mice in control group and 92 in TCDD group were obtained. The bilateral palates contacted in control group on E14.5, and a gap between the bilateral palates existed in TCDD group. On E13.5 and E14.5, the relative expressions of miR-381-3p and RUNX2 and OPN proteins were significant lower in TCDD group than in control group (P<0.05). The relative expression of miR-381-3p at 0.5 and 1 day after TCDD treatment of MEPM cells were significantly lower than that at 0 day (P<0.05); then, the relative expressions at 2 and 3 days significantly increased, showing no significant difference when compared with that at 0 day (P>0.05). The relative expressions of RUNX2 and OPN proteins at 1, 2, and 3 days were significantly lower than that at 0 day (P<0.05). The relative expressions of miR-381-3p and RUNX2 and OPN proteins significantly lower in inhibitor group than in NC inhibitor group (P<0.05) and higher in mimics group than in NC mimics group (P<0.05). Conclusion Down-regulation of miR-381-3p expression may be associated with inhibition of osteogenic differentiation of MEPM cells in TCDD-induced cleft palate of fetal mice.