宁夏回汉族人群中FOXE1基因多态性与非综合征型唇腭裂的相关性研究

Association between FOXE1 polymorphisms and non-syndromic cleft lip with or without cleft palate in Ningxia Hui and Han population

目的:探讨宁夏回汉人群FOXE1基因rs3758249、rs10217225和rs4460498位点单核苷酸多态性与非综合征型唇腭裂发病的相关性。方法:收集宁夏地区回、汉族非综合征型唇腭裂患者207例,其中回族69例,汉族138例;正常对照组292例,其中,回族72例,汉族220例。采用PCR-RFLP方法检测FOXE1基因rs3758249、rs10217225和rs4460498多态位点的基因型,进行病例对照分析。结果:在回汉人群中,与正常对照组比较,单纯唇裂组和唇腭裂组rs3758249、rs10217225和rs4460498多态位点基因型和等位基因频率存在统计学差异(P<0.05);而在单纯腭裂组差异无显著性(P>0.05)。分别对汉族和回族人群内病例对照分析,发现唇裂并唇腭裂组rs3758249、rs10217225和rs4460498多态位点基因型在汉族和回族人群中的均存在差异性(P<0.05)。病例组内进行回、汉族基因型比较,发现rs10217225多态性在宁夏地区回、汉患者中存在差异性(P<0.05),而rs3758249、rs4460498差异没有显著性。结论:在宁夏回汉族人群中,FOXE1基因的rs3758249、rs10217225和rs4460498位点单核苷酸多态性与非综合征型唇腭裂存在相关性;回汉族人群间基因型没有统计学差异。

Objective： To investigate the association between FOXE1 gene rs3758249,rs10217225 and rs4460498 SNPs and non-syndromic cleft lip with or without cleft palate（NSCL/P） in Ningxia Hui and Han population.Methods： 207 NSCL/P patients（69 Hui people and 138 Han people） and 292 healthy individuals（72 Hui people and 220 Han people） were recruited from Ningxia Province.PCR-restriction fragment length polymorphism（PCR-RFLP） was used to identify genotypes of the samples.Case-control analyses were carried out.Results： In all Hui and Han population,there were significant differences in rs3758249,rs10217225 and rs4460498 genotypic and allelic distribution in cleft lip group only（CLO） and in cleft lip with cleft palate（CLP） group compared with the control（P〈0.05）,but no significant difference was found in cleft palate only（CPO） group（P〉0.05）.In case-control analysis in Han and Hui population,there were significant differences in rs3758249,rs10217225 and rs4460498 genotypic in CLO added CLP group respectively.In Hui-Han genotypic analysis in the patient group,there was significant difference in rs10217225 genotypes（P〈0.05）,but no significant difference in rs3758249 and rs4460498 genotypes（P〉0.05）;Conclusion： FOXE1 gene rs3758249,rs10217225 and rs4460498 polymorphism is associated with NSCL/P;there is no difference in Hui-Han genotypic.