PRDM16基因及母亲孕期环境暴露因素与非综合征型唇腭裂相关性研究  

Associations among PRDM16 polymorphisms, environmental exposure factors during mother's pregnancy, and nonsyndromic cleft lip with or without cleft palate

作　　者：殷斌 石冰[1] 贾仲林[1] Yin Bin;Shi Bing;Jia Zhonglin(State Key Laboratory of Oral Diseases ＆ National Clinical Research Center for Oral Diseases ＆ Dept.of Cleft Lip and Palate Surgery,West China Hospital of Sto-matology,Sichuan University,Chengdu 610041,China)

机构地区：[1]口腔疾病研究国家重点实验室国家口腔疾病临床医学研究中心四川大学华西口腔医院唇腭裂外科,成都610041

出　　处：《华西口腔医学杂志》2018年第5期503-507,共5页West China Journal of Stomatology

基　　金：国家重点研发计划精准医学研究项目(2016YFC09052-03);国家自然科学基金(81271118);国家自然基金青年科学基金(81600849)~~

摘　　要：目的探究PRDM16基因rs7525173、rs2236518、rs2493264及母亲孕早期吸烟饮酒与非综合征型唇腭裂(NSCL/P)发生的相关性。方法收集157个患者-父母核心家系,采用连接酶检测反应(LDR)和直接测序两种方法进行基因分型,使用传递不平衡检验(TDT)、连锁不平衡检验(LD)等对数据进行统计分析。收集1 710例唇腭裂患者及956例健康新生儿,填写《唇腭裂患者流行病学调查问卷》,对孕期父母吸烟饮酒暴露因素进行分析。结果 rs2236518位点C等位基因在腭裂组中存在过传递(P<0.05),其余位点在各组中均无明显统计学意义。母亲吸烟、母亲被动吸烟及母亲饮酒3个因素存在统计学差异(P<0.05)。结论 PRDM16基因rs2236518多态性与NSCL/P存在相关性,母亲吸烟、母亲被动吸烟及母亲饮酒与唇腭裂的发生存在密切联系。Objective We aimed to study the association between rs7525173, rs2236518, rs2493264 single nucleotide polymorphism（SNP） in the PRDM16 gene, smoking, alcohol exposures, and nonsyndromic cleft lip with or without cleft palate（NSCL/P）. Methods A total of 157 case-parent trios were selected, and SNPs were genotyped by using ligase detection reaction（LDR） and direct sequencing methods. Transmission disequilibrium test（TDT） and linkage disequilibrium（LD） tests were conducted to analyze the data. A total of 1 710 patients with orofacial clefts and 956 healthy newborns were enrolled in the epidemiological survey. The smoking and drinking exposures of parents during early pregnancy were analyzed. Results The C allele at rs2236518 was over-transmitted for NSCPO（P〈0.05）. Statistical differences were observed among three factors, namely, maternal smoking, maternal passive smoking, and maternal drinking（P〈0.05）. Conclusion The rs2236518 at PRDM16 gene, maternal smoking, maternal passive smoking, and maternal drinking were closely related to the occurrence of NSCL/P.

关 键 词：非综合征型唇腭裂 PRDM16基因 单核苷酸多态性 传递不平衡检验 连锁不平衡检验 

分 类 号：R782.21[医药卫生—口腔医学]