TLR5 rs2072493 A/G基因多态性与广西人群抗中性粒细胞胞浆抗体相关性小血管炎的关系

Correlation of TLR5 rs2072493 A/G with primary ANCA associated vasculitis in Guangxi population

目的探讨TLR5 rs2072493 A/G基因多态性与广西人群抗中性粒细胞胞浆抗体(ANCA)相关性小血管炎(AAV)的关联性。方法采用PCR-RFLP法检测117例AAV患者(AAV组)及207例健康成人(对照组)的TLR5 rs207249基因型,采用病例-对照研究并行临床和病理资料分析。结果 (1)AAV组患者TLR5rs2072493基因多态性AA、AG、GG基因型频率分别为47.0%、41.0%、12.0%,对照组为50.2%、43.5%、6.3%;A和G基因分布:AAV组为67.5%、32.5%,对照组为72.0%、28.0%。两组基因型及等位基因频率比较差异无统计学意义(P>0.05)。(2)3种基因型间关节疼痛差异有统计学意义(P<0.05),以GG基因型最多发;尿酸、白蛋白、Ig A比较差异有统计学意义(P<0.05),尿酸GG基因型明显低于AA和AG型,白蛋白、Ig A GG基因型明显高于AA和AG型。(3)AAV组中有88例行肾穿活检,3种基因型患者间病理学评分差异无统计学意义(P>0.05)。结论 TLR5 rs2072493基因多态性在广西人群普遍存在,可能与AAV遗传易感性无关联,可能与关节痛、UA、Alb、Ig A水平有关联。

Objective To investigate the correlation of TLR5 rs2072493 A/G with primary ANCA associated vasculitis（ AAV） in Guangxi population. Methods The TLR5 rs2072493 A / G polymorphism was analyzed by polymerase chain restricted fragment length polymorphism in 117 cases with AAV and 207 controls. Clinical and pathologic data of the patients with different genotyges were compared in parallel with the control group. Results（ 1） The frequency distribution of TLR5 rs2072493 A / G genotypes AA,AG and GG in 117 AAV patients were 47. 0%,41. 0%,12. 0%,respectively,and the controls were 50. 2%,43. 5%,6. 3%. The frequencies of allele A and G in the AAV patients were 67. 5%,32. 5% and the controls were 72. 0%,28. 0%,respectively. No significant difference was found in neither genotype distribution nor allele frequencies between the patients and the controls（ P〉0. 05）.（ 2） It was found that the significant difference in the arthralgia and it was more common in the GG genotype. Significantly reduced uric acid and elevated ALB and hemoglobin A were found in the in the GG genotype than those in the other two genotypes（ P〈0. 05）. Conclusion The polymorphism of TLR5 rs2072493 A / G is widely common in the Guangxi population but may not be susceptible to AAV. It may be associated with arthralgia,UA,ALB and Ig A in the AAV patients.