NOD1rs7789045基因多态性与广西汉族人群原发性抗中性粒细胞胞浆抗体相关性血管炎的关系  

Relationship between NOD1rs7789045 gene polymorphism and AAV in Guangxi Han population

作　　者：李雪[1] 薛超[1] 黎伟[1] 黄莉[1] 曹越琦 何佩耕 LI Xue;XUE Chao;LI Wei;HUANG Li;CAO Yueqi;HE Peigeng(Department of Nephrology,Guangxi Medical University,the Second Affiliated Hospital of Guangxi Medical University,Nanning 530007,China)

机构地区：[1]广西医科大学第二附属医院肾内科,南宁530007

出　　处：《实用医学杂志》2019年第21期3389-3393,共5页The Journal of Practical Medicine

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：桂青科0718060);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：目的探讨核苷酸结合寡聚化结构域蛋白1(NOD1)单核苷酸基因多态性(single nucleotied polymorphism,SNP)与广西汉族人群原发性抗中性粒细胞胞浆抗体(anti?neutrophil cytoplasmic antibodies,ANCA)相关性血管炎(ANCA associated vasculitis,AAV)的关联性。方法采用PCR?RFLP和DNA测序方法鉴定79例AAV患者(病例组)与112例健康成人(对照组)中NOD1 rs7789045A/T位点基因型,优势比(OR)和95%置信区间(95%CI)用来估计相对危险度,同时对病例组基因型的临床资料、实验室资料进行分析。结果病例组与对照组A、T等位基因频率分别为48.1%、51.9%和59.8%、40.2%,两者分布差异有统计学意义(P=0.023);病例组AA、AT、TT基因型频率分别为20.3%、55.7%、24.0%,对照组AA、AT、TT基因型频率分别为37.5%、44.6%、17.9%,与AA基因型相比,携带AT、TT、AT+TT基因型增加了AAV的发病风险(OR=2.31,95%CI:1.14~4.67)、(OR=2.49,95%CI:1.06~5.85)、(OR=2.36,95%CI:1.21~4.61)。病例组中NOD1 rs7789045的3种基因型间的临床指标(发热、皮疹、关节痛、水肿、蛋白尿、血白细胞、血红蛋白、血尿素氮、血肌酐、血清白蛋白)比较差异无统计学意义(P>0.05)。结论NOD1 rs7789045A/T是广西汉族人群中AAV的易感基因。Objective To investigate the correlation between nucleotide?binding oligomerization domain?containing protein1(NOD1)gene polymorphism with primary antineutrophil cytoplasmic antibodies(ANCA)associ?ated vasculitis(AAV)in Guangxi Han population.Methods The genotypes of NOD1 rs7789045 in 79 patients with AAV(case group)and 112 healthy people(control group)were analyzed by PCR?RPLF and DNA gene sequenc?ing.Estimate the relative risk using odds ratio(OR)and 95%confidence interval(95%CI).At the same time,the clinical data and laboratory data of genotypes in case group were analyzed.Results Firstly,the A and T allele frequencies of the case group and the control group were 48.1%,51.9%,59.8%,and 40.2%,respectively.There was a statistically significant difference between the two groups(P=0.023).The frequencies of case group AA,AT,TT genotype were 20.3%,55.7%,and 24.0%,respectively.The frequencies of AA,AT,and TT genotypes in the control group were 37.5%,44.6%,and 17.9%,respectively.Compared with the AA genotype,the risk of AAV was increased in those people who carried AT(OR=2.31,95%CI:1.14~4.67),TT(OR=2.49,95%CI:1.06~5.85),and AT+TT(OR=2.36,95%CI:1.21~4.61)genotype.Secondly,clinical indicators of three genotypes of NOD1 rs7789045 in case group was no significant difference in fever,rash,joint pain,edema,proteinuria,white blood cells,hemoglobin,blood urea nitrogen,serum creatinine and serum albumin(P>0.05).Conclusions The NOD1 rs7789045A/T gene may be related to the susceptibility gene of AAV in Guangxi Han population.

关 键 词：ANCA相关性血管炎 单核苷酸基因多态性 NOD1 广西 

分 类 号：R73[医药卫生—肿瘤]