GNB3 C825T等位基因多态性与原发性IgA肾病相关性研究

目的：研究G蛋白β3亚基（GNB3）C825T等位基因多态性与原发性IgA肾病（IgAN）的发生与病情进展。方法：病例组为216例原发性IgAN患者,对照组为200例健康志愿者。采用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）技术检测各组GNB3 825位点基因型。病例组分为高血压组与非高血压组;同时按基因型的不同将病例组分为TT组、CT组与CC组。结果：（1）病例组与对照组TT、CT、CC基因型频率分别为21.76%、54.63%、23.61%与18.00%、47.00%、35.00%,两组TT、TC、TT＋TC基因型与CC基因型分布频率存在统计学差异（P〈0.05）;病例组T等位基因分布频率高于对照组（49.07%vs 41.50%,P〈0.05）。（2）216例IgAN中,高血压组与非高血压组TT、CT、CC基因型频率分别为32.88%、49.31%、17.81%与16.09%、57.34%、26.57%（P〈0.05）。高血压组T等位基因频率较非高血压组明显增加（57.53%vs 44.76%,P〈0.05）。（3）病例组不同基因型携带者病理分级轻重无统计学差异（P〉0.05）。（4）病例组中不同基因型携带者在性别、年龄、体重指数、尿蛋白排泄量（〉1 g/d）、血肌酐水平、血胆固醇水平及三酰甘油水平无统计学差异（P〉0.05）,而高尿酸血症的发生存在统计学差异（P〈0.05）,TT组高尿酸血症患者较CT组及CC组高。结论：（1）病例组TT基因型和T等位基因频率较对照组明显增加,结果显示GNB3 825T等位基因可能与IgA肾病的发病有关,提示该基因可能与IgA肾病的遗传易感性相关。（2）GNB3 825T等位基因能影响IgA肾病患者高血压、高尿酸血症的发生。GNB3C825T等位基因多态性与IgA肾病发病及病情进展的相关机制有待进一步研究。

Association between GNB3 C825T Polymorphism and Primary IgA Nephropathy

Objective： To investigate the association between GNB3 C825T （GNB3） polymorphism and primary IgA nephropathy （IgAN）. Methods： Two hundred and sixteen patients with primary IgA nephropathy were included with 200 healthy subjects. Genotype was determined by polymerase chain reaction （PCR）, followed by restriction enzyme analysis. The patients were divided into two groups： hypertension group and the non hypertension group. According the Genotype, IgAN patients were divided into three groups： TT group, CT group and CC group. Results： The study showed： （ 1 ）The TT, CT, CC genotype frequencies were 21. 76% ,54.63%and 23.61% in IgAN, respectively, versus 18.00% ,47.00% and 35.00% in controls, respectively（P〈 0.05）. The T allele frequency was 49.07 % in IgAN versus 41.50 % in controls（P〈 0.05）. The data indicated that TT genotype frequency and T allele frequency in IgA nephropathy patients were higher than that in healthy subjects. （2） In 216 primary IgAN, the TT, CT,CC genotype frequencies were 32.88 %, 49.31% and 17.81% in hypertension group, respectively, versus 16.09 %, 57.34 % and 26.57 % in non - hypertension group, respectively（P 〈 0.05）. The T allele frequency was 57.53 % in hypertension group versus 44.76 % in non- hypertension group（P 〈 0.05）. （3） There was no difference between pathological data and genotype（P 〈 0.05）. （4） In IgA nephropathy patients, the association between genotype and clinical presentation was analysed. The indexes as gender, age, body mass index,excretion of protein in urine,the level of serum creatinine and the level of serum triglyceride and cholesterol were of no difference in the subgroups（P 〉0.05）. As compared with CT and （2（2 groups, TT group had higher level of serum uric acid（P〈 0.05）. Conclusion： （1）The frequency of GNB3,825T allele in IgAN was significantly higher than that in healthy persons. It indicat- ed that GNB3 C825T polymorphism had a significant influence on the occurrence of IgA