中国人群非综合征型唇腭裂遗传背景研究新进展  

New progress in genetic background of non-syndromic cleft lip and palate in Chinese population

作　　者：杨琼琼(综述) 李萍 王倩(审校) YANG Qiong-qiong;LI Ping;WANG Qian(Hospital of Stomatology,Zunyi Medical University,Zunyi 563000,Guizhou,CHINA;Special Key Laboratory of Oral Diseases Research,Higher Education Institution in Guizhou Province(Zunyi Key Laboratory of Oral Diseases,Zunyi Medical University),Zunyi 563000,Guizhou,CHINA)

机构地区：[1]遵义医科大学附属口腔医院,贵州遵义563000 [2]贵州省普通高等学校口腔疾病研究特色重点实验室暨遵义市口腔疾病研究重点实验室&遵义医科大学,贵州遵义563000

出　　处：《海南医学》2022年第11期1454-1458,共5页Hainan Medical Journal

基　　金：贵州省普通高等学校科技拔尖人才支持计划(编号:黔教合KY字[2016]080);贵州省遵义市科技支撑计划项目(编号:遵市科合支撑NS(2019)15号)。

摘　　要：非综合征型唇腭裂(NSCL/P)是人类最普遍的颅颌面畸形之一,病因复杂,目前普遍认为其发病机制主要与遗传和环境因素有关。通过流行病学调查、全基因组关联研究和动物模型分析等,在NSCL/P易感基因座的鉴定方面取得了重大进展。围绕中国人群进行的NSCL/P遗传病因学最新研究显示,与NSCL/P发病率有重要关系的易感基因有RhoGTP酶激活蛋白29(Arhgap29)、抑癌基因p53、甲状腺转录因子2(TTF2或FOXE1)、成纤维细胞生长因子(FGF)、Sprouty基因(SPRY)、脊髓灰质炎病毒受体相关基因(PVRL)。研究表明,Arhgap29、p53、FOXE1、FGF、SPRY及PVRL基因与中国人群NSCL/P的发生有明显关联。同时,单核苷酸位点包括rs4791774(p53)、rs7043516(FOXE1)等在不同的人群中缺乏一致性,甚至会出现背离现象,这可能源于中国民族构成的复杂性以及NSCL/P的遗传异质性。固而有必要针对其遗传背景、作用机制开展进一步研究。Non-syndromic cleft lip and palate(NSCL/P)is one of the most common cranio-maxillofacial deformities in human,and its etiology is complicated.It is generally believed that its pathogenesis is mainly related to genetic and environmental factors.Significant progress has been made in the identification of NSCL/P susceptible loci through epidemiological investigation,genome-wide association studies and animal model analysis.The latest research on the genetic etiology of NSCL/P conducted around the Chinese population shows that the susceptible genes that are importantly related to the incidence of NSCL/P include Rho GTPase activating protein 29(Arhgap29),tumor suppressor gene p53,thyroid transcription factor-2(TTF2 or FOXE1),fibroblast growth factor(FGF),Sprouty gene(SPRY),and poliovirus receptor related gene(PVRL).Studies have shown that Arhgap29,p53,FOXE1,FGF,SPRY,and PVRL genes are significantly related to the occurrence of NSCL/P in Chinese population.At the same time,single nucleotide loci including rs4791774(p53)and rs7043516(FOXE1)lack consistency among different populations,and even deviations may occur,which may be due to the complexity of Chinese ethnic composition and the genetic heterogeneity of NSCL/P.It is necessary to carry out further study on its genetic background and mechanism.

关 键 词：非综合征型唇腭裂 易感基因 环境因素 单核苷酸多态性 RhoGTP酶激活蛋白29 抑癌基因P53 甲状腺转录因子2 成纤维细胞生长因子 Sprouty基因 脊髓灰质炎病毒受体相关基因 

分 类 号：R394[医药卫生—医学遗传学]