NF-κB1基因-94ins/delATTG多态性与原发抗中性粒细胞胞浆抗体相关性小血管炎的关系  

The correlation between NF-κB1 gene promoter-94ins/delATTG polymorphism and primary ANCA associat-ed vasculitis

作　　者：韦晓梨[1] 薛超[1] 廖蕴华[1] 周将[1] 彭茜[1] 曹白婵[1] 卜昆鹏[1] 邱晓楠 

机构地区：[1]广西医科大学第一附属医院肾内科,南宁530021

出　　处：《广东医学》2013年第24期3727-3731,共5页Guangdong Medical Journal

基　　金：国家自然科学基金资助项目(编号:81360117);广西青年科学基金资助项目(编号:桂科青0728060);广西医疗卫生重点科研课题(编号:重2010008);广西壮族自治区卫生厅自筹经费科研课题(编号:Z2007088)

摘　　要：目的探讨核因子κB1(NF-κB1)基因启动子-94ins/delATTG基因多态性与广西汉族人群中原发抗中性粒细胞胞浆抗体(ANCA)相关性小血管炎(AAV)的关系。方法采用PCR限制性片段长度多态性分析法检测87例AAV患者及101例年龄、性别相匹配的健康成人的NF-κB1-94ins/delATTG基因型,行病例-对照研究,并行临床和病理资料分析。结果 (1)87例AAV患者NF-κB1-94ins/delATTG基因多态性WW、DD、WD基因型频率分别为37.9%、16.1%、46.0%,健康人分别为35.6%、20.8%、43.6%,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)3种基因型患者间血清C反应蛋白(CRP)、类风湿因子(RF)水平差异有统计学意义(P<0.05),WW基因型明显低于DD和WD型;(3)3种基因型患者间IgM水平差异有统计学意义(P<0.05),DD型低于WW和WD型。结论 NF-κB1-94ins/delATTG基因在广西AAV患者中存在WW、DD、WD 3种基因型多态性,可能与广西AAV患者的遗传易感性不相关联,但可能与血清CRP、RF、IgM水平存在关联。Objective To investigate the correlation between NF - KB1 gene promoter -94ins/delATTG poly- morphism and primary ANCA associated small vasculitis （AAV）. Methods NF - KB1 -94ins/delATTG polymorphism was analyzed by polymerase chain restricted fragments length polymorphism in 87 cases with AAV and 101 controls. Clinical and pathologic data of the patients with different genotype were also compared. Results The frequencies of WW, DD and WD genotype of NF - KB1 -94ins/delATYG in AAV patients were 37.9% , 16. 1% and 46. 0% , respectively; while they were 35.6% , 20. 8% and 43.6% , respectively, in controls. No significant difference was found in either genotype distribution or allele frequencies between the patients and the controls （ P 〉 0. 05 ）. Significant reduction in serum CRP and RF was found in WW genotype than the other two genotypes, as significant reduction in IgM was also observed in DD genotype than the other two genotypes （P 〈 0. 05 ）. Conclusion WW, DD and WD genotypes are revealed in NF - KB1 -94ins/delATTG in patients with AAV in Guangxi, without significant correlation with susceptibility to primary AAV in Guangxi.

关 键 词：抗中性粒细胞胞浆抗体相关性小血管炎 核因子κB1 单核苷酸多态性 基因 

分 类 号：R543[医药卫生—心血管疾病]