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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 investigate the association between polymorphisms of rs6785358 and rs764522 of transforming growth factor-β receptor type Ⅱ (TGFBR2) gene and rheumatic heart disease (RHD) in Chinese Han population. Methods 207 case of rheumatic heart disease hospitalized in Nanjing First Hospital Affiliated to Nanjing Medical University from October 2008 to January 2011 were selected as case-control study. Patients with rheumatic heart disease (rheumatic heart disease) and age-matched 225 healthy adults as a control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the polymorphism of rs6785358 and rs764522 in two groups of TGFBR2 gene. Results The frequencies of AA, AG and GG genotypes of rs6785358 in TGFBR2 gene in rheumatic heart disease group and control group were 72.0%, 25.1%, 2.9% and 68.9%, 28.0% and 3.1% respectively, with no significant difference between the two groups (χ2 = 0.50, P = 0.78). The frequencies of A and G alleles were 84.5%, 15.5% and 82.9%, 17.1% respectively. There was no significant difference between the two groups (χ2 = 0.43, P = 0.51). The frequency of genotypes CC, CG and GG at rs764522 in rheumatic heart disease group and control group were 77.3%, 21.3%, 1.4% and 75.6%, 21.3% and 3.1%, respectively. There was no significant difference between the two groups (χ2 = 1.33, P = 0.51). The frequencies of C and G alleles were 87.9%, 12.1% and 86.2%, 13.8%, respectively. There was no significant difference between the two groups (χ2 = 0.55, P = 0.46). After sex stratification, the genotype and allele frequencies of rs6785358 and rs764522 in rheumatic heart disease group and control group were still not significantly different (P> 0.05). Conclusion There is no significant association between TGFBR2 gene rs6785358, rs764522 polymorphism and rheumatic heart disease in Chinese Han population.