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Association Between Foxe1Polymorphisms And Non-syndromic Cleft Lip With Or Without Cleft Palate In Ningxia Hui And Han Population

Posted on:2013-10-30Degree:MasterType:Thesis
Country:ChinaCandidate:G X ZhangFull Text:PDF
GTID:2284330362472424Subject:Oral and clinical medicine
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Objective Non-syndromic cleft lip and palate is the most common oral and maxillofacialcongenital defects. The incidence of the disease groups of about1‰~2‰. Different racesand different geographical incidence are not all the same. The population’s birth rate in Asiaand the Americas was to be significantly higher than that of the African population. InNingxia regional epidemiological survey showed the NSOC incidence rate of2.19‰in2007,that in the incidence of birth defects was accounted for NO.1and a serious impact on thequality of births. NSCL NSOC risk factors are more complex, involving genetic andenvironmental factors and their interaction. In the study at home and abroad found thatgenetic factors and at least ten kinds of genetic variability was association with theoccurrence of cleft lip and palate. Now study frequently and more support were IRF6,FOXE1, MSX1, FGF3, of TGFα and BCL-3and other gene loci.To investigate theassociation between FOXE1gene rs3758249、 rs10217225and rs4460498SNPs andnon-syndromic cleft lip with or without cleft palate (NSCL/P) in Ningxia Hui and Hanpopulation.Methods In this study,208NSCL/P patients (69Hui people and138Han people) and292healthyindividuals (72Hui people and220Han people) were recruited from Ningxia Province. PCR-restrictionfragment length polymorphism (PCR-RFLP) was used to identify genotypes of the samples. Case-controlanalyses were carried out, family based association test (FBAT), transmission disequilibrium test(TDT) was used to analysis the relevance between FOXE1gene polymorphism andnon-syndromic oral clefting.Results In all Hui and Han population, there were significant differences in rs3758249、rs10217225and rs4460498genotypic and allelic distribution in cleft lip only(CLO) and cleft lip with palate (CLP) groupcompared with the control group (P<0.05), but no significant difference in cleft palate only (CPO) group(P>0.05). In case-control analysis in Han and Hui population respectively, there were significantdifferences in rs3758249、rs10217225and rs4460498genotypic in CLO added CLP group. In Hui-Hangenotypic analysis in the patient group, there were significant differences in rs10217225genotypes(P<0.05), but no differences in rs3758249and rs4460498genotypes (P>0.05).Conclusion FOXE1gene rs3758249、rs1021722and rs4460498polymorphism were associated withNSCL/P; there was no difference in Hui-Han genotypic.
Keywords/Search Tags:] non-syndromic cleft lip with or without cleft palate, FOXE1, single nucleotide polymorphism
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