MTHFR、BMPR1B和TYMS多态性与先天性小耳畸形相关性研究  

Polymorphism analysis of MTHFR,BMPR1B and TYMS in microtia

作　　者：刘宁 刘育凤 隋静[2] 张艳秋[2] 马书梅[2] 吴文娟[2] 梁戈玉[2] 谭谦[3] 

机构地区：[1]南京中医药大学附属医院整形外科,南京210029 [2]东南大学公共卫生学院教育部环境医学工程重点实验室 [3]南京中医药大学附属中西医结合鼓楼临床医学院烧伤整形科

出　　处：《临床耳鼻咽喉头颈外科杂志》2017年第6期409-414,共6页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：江苏省科技支撑计划-社会发展项目(No:BE2011817);江苏省六大人才高峰(No:2013-WSW-053)

摘　　要：目的:探讨MTHFR、BMPR1B和TYMS基因多态性与先天性小耳畸形的相关性。方法:收集180例小耳畸形患者和141例健康对照,采用多重PCR分析方法对MTHFR rs4846049、BMPR1Brs1434536和TYMS rs2790位点进行基因型检测,采用χ~2检验分析各基因型频率和等位基因频率的在病例组和对照组中的分布,采用分层分析探讨3种基因多态性对不同性别先天性小耳畸形发病风险的影响。结果:TYMS基因rs2790位点基因型频率和等位基因频率分布在病例组与对照组中差异有统计学意义(P<0.05),进一步分层分析发现,TYMS rs2790基因多态性主要增加男性先天性小耳畸形发病风险(P<0.05),与携带AA基因型的个体相比,携带基因型AG、GG、AG+GG的个体发病风险分别为对照组的1.93、3.23和2.10倍,95%CI分别为1.07~3.48、1.12~9.33和1.20~3.68。未发现MTHFR rs4846049、BMPR1Brs1434536多态性和先天性小耳畸形有关(P>0.05)。结论:TYMS rs2790基因多态性和男性先天性小耳畸形发生有关。Objective：To explore the relationship between MTHFR,BMPR1 Band TYMS polymorphism and congenitial microtia in Chinese Han population.Method：A total of 180 microtia patients and 141 healthy participants were enrolled in this study.The genotyping of MTHFR rs4846049,BMPR1Brs1434536 and TYMS rs2790 of the participants were examined with multiple PCR.Frequencies and allele distribution of MTHFR rs4846049,BMPR1Brs1434536 and TYMS rs2790 between cases and control were analyzed with Chi-square test.Result：The genotype frequency distribution of TYMS rs27901 polymorphism was significantly different between two groups（P〈0.05）.Furthermore,gender stratified analysis showed that TYMS rs2790 polymorphism mainly increase the risks of congenitial microtia in male（P〈0.05）.Compared with AA genotype,the mircotia risks of subjects with AG GG AG＋GG raised to 1.93,3.23 and 2.10 times,respectively（95%CI：1.07-3.48、1.12-9.33 and 1.20-3.68）.However,there was no relationship between MTHFR rs4846049,BMPR1Brs1434536 and microtia.Conclusion：The TYMS rs2790 polymorphism may be a risk factor of microtia in male.

关 键 词：先天性小耳畸形 MTHFR BMPR1B TYMS 基因多态性 

分 类 号：R764.7[医药卫生—耳鼻咽喉科]