Objective: To investigate the correlation between transformation growth factor (TGF- B) polymorphisms and IgA nephropathy and the therapeutic effect of dendrobium on IgA nephropathy.
Methods: Polymerase chain reaction- restriction fragment length polymorphism (PCR- RFLP) and direct sequencing were used for analysis of 118 patients with IgA nephropathy from core families in Guangxi Zhuang Autonomous Region. The imbalanced transfer of TGF iso1-509 C/T in the affected offsprings was observed by transfer imbalance test and HRR analysis. The TGF-B genotype of the patients and the core family members were detected. The therapeutic effects of Dendrobium candidum combined with hormone and ACEI/ARB treatments were evaluated by observing the patient's urine protein (24 hUpr), serum albumin (ALB), creatinine (Scr) and urea nitrogen (BUN) levels.
Results: In the 118 patients with IgA nephropathy, we identified TGF-B 1 promoter -509C/T genotype CC in 32 (27.1%) cases, CT in 58 (49.2%) cases, and TT in 28 (23.7%) cases. In the core family of the patients, CC genotype was found in 33 (28.0%) cases, CT in 55 (46.6%) cases, and TT in 30 (28.0%) cases. The treatments significantly lowered 24 hUpr, Scr, and BUN levels (P > 0.05) in patients with CC genotype, significantly lowered 24 hUpr and BUN levels in patients with CT genotype (P < 0.05), and significantly lowered 24 hUpr and BUN level and increased (P < 0.05) ALB level (P < 0.01) in patients with TT genotype.
Conclusions: There is no significant correlation between TGF-B promoter - 509C/T polymorphism and IgA nephropathy. The patients with CC genotype are sensitive to the treatments with hormone and ACEI/ ARB and show a stronger response to combined treatments with dendrobium.
目的: 探讨IgA肾病(IgAN)患者转化生长因子-β(TGF-β)的启动子-509C/T位点多态性及铁皮石斛处方的疗效。
方法: 采用PCR-RFLP和直接测序法鉴定118例桂西壮族IgA肾病患者，按TGF-β1基因测序情况，分为CC、CT和TT三种类型，每种类型随机分为试验组和观察组。另外选取入选患者的兄弟姐妹118例作为家系对照组，采用传递不平衡检验和HRR分析的方法观察TGFβ1-509 C/T在患病子代的不平衡传递。随机抽取具有至少1名健康的兄弟姐妹同胞的壮族IgA N患者，检测患者和核心家系成员的TGF-β基因型，在激素联合ACEI/ARB基础上观察铁皮石斛处方的干预效果，并检测患者尿蛋白定量(24 hUpr)、血清白蛋白(ALB)、肌酐(Scr)、尿素氮(BUN)水平的变化情况。
结果: 桂西壮族IgA N患者TGF-β1启动子-509C/T位点基因CC型32例(占27.1%)，CT型58例(占49.2%)，TT型28例(占23.7%)。而IgAN患者核心家系人群为CC型33例(占28.4%)，CT型55例(占46.6%)，TT型30例(占25.0%)。治疗前试验组与观察组差异无统计学意义(P > 0.05)，治疗后，CC型：试验组24 hUpr、Scr、BUN水平降低的幅度较观察组高(P < 0.01或P < 0.05)。ALB水平升高的幅度较观察组高，但其差异无统计学意义(P > 0.05)；CT型：24 hUpr和BUN水平降低的幅度较观察组高(P < 0.01)。Scr水平降低的幅度较观察组高，ALB水平降低的幅度较观察组高，但其差异无统计学意义(P > 0.05)；TT型：24 hUpr、BUN水平降低的幅度较观察组高(P < 0.01或P < 0.05)。ALB水平升高的幅度较观察组高(P < 0.01)。Scr水平降低的幅度较观察组高，但差异无统计学意义(P > 0.05)。
结论: 桂西壮族居民TGF-β启动子-509C/T位点多态性与IgA N患病无关联性；西药联合铁皮石斛处方治疗可有效提高IgA N的临床疗效；携带TGF-β启动子-509基因位点CC型的患者，不仅对西医治疗敏感，对铁皮石斛处方联合干预效果更敏感。
Keywords: Caulis dendrobii; IgA nephropathy; gene polymorphism; transforming growth factor-beta.