摘要
目的探讨中国汉族人群转化生长因子Ⅱ型受体(transforming growth factor-βreceptor typeⅡ,TGFBR2)基因rs6785358、rs764522位点多态性与风湿性心脏病(rheumatic heart disease,RHD)的关系。方法采用病例对照设计,选择2008年10月至2011年1月在南京医科大学附属南京第一医院住院的风湿性心脏病患者207例作为风湿性心脏病组(风心病组)及性别年龄匹配的健康成人225例作为对照组。采用聚合酶链反应-限制性片段多态性(PCR-RFLP)方法检测两组TGFBR2基因rs6785358、rs764522位点的多态性。结果风心病组和对照组TGFBR2基因rs6785358位点AA、AG、GG基因型频率分别为72.0%、25.1%、2.9%和68.9%、28.0%、3.1%,两组比较差异无统计学意义(χ2=0.50,P=0.78);A和G等位基因频率分别为84.5%、15.5%和82.9%、17.1%,两组比较差异无统计学意义(χ2=0.43,P=0.51)。风心病组和对照组rs764522位点CC、CG、GG基因型频率分别为77.3%、21.3%、1.4%和75.6%、21.3%、3.1%,两组比较差异无统计学意义(χ2=1.33,P=0.51);C和G等位基因频率分别为87.9%、12.1%和86.2%、13.8%,两组比较差异无统计学意义(χ2=0.55,P=0.46)。经性别分层后,rs6785358和rs764522的基因型和等位基因频率在风心病组和对照组中的分布差异仍无统计学意义(P>0.05)。结论中国汉族人群TGFBR2基因rs6785358、rs764522位点多态性与风湿性心脏病无明显关联。
Objective To explore the association between transforming growth factor-β receptor typeⅡ（TGFBR2） gene rs6785358 and rs764522 polymorphisms and rheumatic heart disease（RHD） in Chinese Han People.Methods The research design was a case-control study.A total of 207 patients who were hospitalized in Nanjing First Hospital Affiliated to Nanjing Medical University between October 2008 and January 2011 with RHD served as RHD group while 225 age and gender matched healthy adults as control group.Polymerase chain reaction-restriction length polymorphism（PCR-RFLP） technique was used to determine TGFBR2 gene rs6785358 and rs764522 polymorphisms.Results The frequencies of genotype AA,AG and GG of rs6785358 in RHD group and control group were 72.0%,25.1%,2.9% and 68.9%,28.0%,3.1%,respectively.There was no significant difference in the distribution of genotype frequencies for rs6785358 between RHD group and control group（χ2=0.50,P=0.78）.The frequencies of allele A and G of rs6785358 in RHD group and control group were 84.5%,15.5% and 82.9%,17.1%,respectively.There was no significant difference in the distribution of allele frequencies for rs6785358 between RHD group and control group（χ2=0.43,P=0.51）.The frequencies of genotype CC,CG and GG of rs764522 in RHD group and control group were 77.3%,21.3%,1.4% and 75.6%,21.3%,3.1%,respectively.There was no significant difference in the distribution of genotype frequencies for rs764522 between RHD group and control group（χ2=1.33,P=0.51）.The frequencies of allele C and G of rs764522 in RHD group and control group were 87.9%,12.1% and 86.2%,13.8%,respectively.There was no significant difference in the distribution of allele frequencies for rs764522 between RHD group and control group（χ2=0.55,P=0.46）.Further analysis by sex stratification showed that no statistical significance was detected in the distribution of genotype and allele frequencies for rs6785358 or rs764522 between RHD patients and controls.Conclusion TGFBR2 gene rs6785358 and rs764522 polymorphisms are not associated with RHD in Chinese Han people.
出处
《中国胸心血管外科临床杂志》
CAS
2012年第1期52-56,共5页
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery
基金
国家自然科学基金资助项目(30800947)
江苏省医学科技发展项目(KF2009150)~~
关键词
风湿性心脏病
转化生长因子Ⅱ型受体
基因多态性
病例对照研究
Rheumatic heart disease
Transforming growth factor-β receptor typeⅡ
Gene polymorphisms
Case-control study
