醛固酮瘤CYP11B2基因C-344T位点单核苷酸多态性与其发病关系

目的探讨醛固酮瘤CYP11B2基因启动子区C-344T位点单核苷酸多态性与醛固酮瘤患者发病之间的关系。方法应用RT-PCR检测醛固酮瘤（醛固酮瘤肿瘤组织标本34例,醛固酮瘤肿瘤病理切片标本44例）和正常肾上腺组织（13例）中SF-1基因的mRNA表达水平,PCR-RFLP技术检测醛固酮瘤CYP11B2基因C-344T位点基因型。结果在醛固酮瘤中SF-1基因的表达与正常肾上腺组织的无明显差别（P=0.919）,醛固酮瘤病例中CYP11B2基因启动子区C-344T位点C等位点频率明显高于正常人,差异有统计学意义（χ2=6.876,P=0.009）。结论醛固酮瘤CYP11B2基因启动区C-344T位点中C等位点与类固醇合成因子结合率高于T等位点,C等位点与醛固酮瘤患者高醛固酮血症有关。

Association between the incidence of aldosterone-producing adenoma and the C-344T single nucleotide polymorphism of CYP11B2 gene promoter

Objective To investigate the association between the incidence of aldosterone-producing tumor（APA）and the C-344T single nucleotide polymorphism of CYP11B2 gene promoter.Methods We developed a real-time RT-PCR assay and examined the expression of SF-1 in APA（including 44 tumor tissues of APA,44 tumor biopsy specimens of APA）and 13 normal adrenal tissues,and then deteted the genotypes at C-344T position of CYP11B2 gene promoter in APA with PCR-RFLP.Results The expression of SF-1 in APA had no significant difference with that in normal adrenal（P=0.919）.The C allele frequencies at C-344T position of CYP11B2 gene promoter were higher in APA than in normal adrenal tissue,with significant difference（χ2=6.876,P=0.009）.Conclusion The frequency of the-344C allele of the CYP11B2 gene promoter binding the SF-1 was higher in APA than the-344T allele in APA.The C allele was closely related to higher aldosterone levels in APA.