目的:探讨TLR4基因启动子区-1837A/G基因多态性与广西汉族人群原发抗中性粒细胞胞浆抗体相关性小血管炎(AAV)易感性之间的关系。方法采用PCR限制性片段长度多态性分析法检测110例AAV患者及101例年龄、性别相匹配的健康成人的TLR4基因1837A/G,行病例-对照研究、临床和病理资料分析。结果(1)110例AAV患者TLR4-1837A/G多态性AA、AG、GG基因型频率分别为53.64%、40.00%、6.36%,A和G等位基因频率分别为73.64%、26.36%;101例健康人AA、AG、GG基因型频率分别为50.50%、39.60%、9.90%,A和G等位基因频率分别为70.30%、29.70%;两者基因型及等位基因频率比较差异无统计学意义(P>0.05)。(2)AA型及GG基因型血尿发生率、C反应蛋白、血沉水平均高于AG基因型,差异有统计学意义(P<0.05)。(3)3种基因型血红蛋白水平差异有统计学意义(P<0.05),AG型的血红蛋白水平明显高于AA型及GG型。结论广西汉族人群中,TLR4-1837A/G基因型多态性可能与AAV患者血尿发生率、血红蛋白、C反应蛋白、血沉水平相关,但可能与AAV患者的遗传易感性不相关联。
Objective To investigate the correlation between TLR 4 gene promoter region -1837A/G polymor-phism and primary ANCA associated small vasculitis ( AAV) in Guangxi Han nationality .Methods TLR4-1837A/G polymorphism was analyzed by polymerase chain restricted fragments length polymorphism in 110 cases with AAV and 101 controls .Clinical and pathologic data of the patients with different genotype were also compared .Results The frequencies distribution of TLR4-1837A/G genotype AA, AG and GG in 110 AAV patients were 53.64%, 40.00% and 6.36%, respectively;and the frequencies of allele A and G were 73.64% and 26.36%, respectively .In controls , the genotype frequencies of AA , AG and GG were 50.50%, 39.60% and 9.90%, respectively; with frequencies of allele A and G were 70.30%and 29.70%, respectively .No significant difference was found in either genotype distribution or allele fre-quencies between the patients and the controls (P〉0.05).Significant reductions in the incidence of hematuria , serum C reactive protein , and erythrocyte sedimentation rate was found in AG genotype than those in the other two genotypes ; so was the increase of hemoglobin in AG genotype (P〈0.05).Conclusion In the Han nationality in Guangxi , the poly-morphism of TLR4-1837 A/G may be associated with hematuria , hemoglobin , C reactive protein , and erythrocyte sedi-mentation rate in patients with AAV , but not the genetic susceptibility to AAV .