STAT3基因多态性与AAV的关系

发布时间：2018-02-03 04:42

本文关键词： ANCA相关性小血管炎 STAT 单核苷酸多态性　出处：《广东医学》2017年16期 　论文类型：期刊论文

【摘要】：目的探讨STAT3 rs2293152和rs744166基因多态性与中国广西汉族人群中原发性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-RFLP方法鉴定中国汉族98例AAV患者(病例组)基因型,以213例年龄、性别相匹配的中国汉族健康人群(对照组)为对照,分析各基因型和基因频率的差异与AAV的关系,同时采用病例-对照研究方法对其血清等相关指标进行检测,分析各基因型与临床症状、实验室检验指标及病理指标的关联。结果 (1)病例组STAT3 rs2293152基因多态性3种基因型分布频率:GG(31.6%)、GC(45.9%)、CC(22.4%),等位基因分布频率:G(54.5%)、C(45.4%);对照组基因型分布频率:GG(37.6%)、GC(51.6%)、CC(10.8%),等位基因分布频率:G(63.4%)、C(36.6%),CC基因型(P=0.024)及C等位基因(P=0.046)出现频率病例组均高于对照组,差异均有统计学意义(P0.05)。病例组3种基因型间关节痛发生率的差异有统计学意义(P0.05),其中CC基因型关节痛发生率高于GG、GC基因型;实验室检验指标CRP水平的差异有统计学意义(P0.05),其中CC基因型CRP水平高于GG、GC基因型。(2)STAT3 rs744166基因多态性3种基因型分布频率:TT(20.4%)、TC(59.2%)、CC(20.4%),等位基因分布频率:T(50.0%)、C(50.0%);对照组基因型分布频率:TT(23.9%)、TC(56.3%)、CC(19.7%),等位基因分布频率:T(52.1%)、C(47.9%),基因型及等位基因分布频率在病例组与对照组间的差异均无统计学意义(P0.05)。病例组3种基因型间咯血、血尿发生率的差异均有统计学意义(P0.05),其中TT基因型咯血发生率高于TC、CC基因型,TC基因型血尿发生率高于TT、CC基因型。TC基因型肾脏病理学评分AI、CI均高于TT、CC基因型,差异有统计学意义(P0.05)。结论 (1)中国广西汉族人群中STAT3 rs2293152基因多态性可能与AAV的遗传易感性相关;CC基因型和C等位基因频率分布可能与AAV患者关节痛发生率及CRP水平相关。(2)AAV患者中STAT3 rs744166基因多态性可能与临床上咯血、血尿发生率及病理学评分AI、CI相关,但可能与AAV的遗传易感性关系不大。
[Abstract]:Objective to investigate the relationship between polymorphisms of STAT3 rs2293152 and rs744166 genes and primary antineutrophil cytoplasmic antibodies (ANCA) associated with small vasculitis in Guangxi Han population. Methods PCR-RFLP method was used to identify the genotypes of 98 AAV patients (case group) in Chinese Han nationality. The relationship between genotype and gene frequency and AAV was analyzed in 213 age-matched healthy Chinese Han population (control group). At the same time, a case-control study was used to detect the serum and other related indicators, to analyze the genotypes and clinical symptoms. The relationship between laboratory test index and pathological index. Results 1) the distribution frequency of three genotypes of STAT3 rs2293152 gene polymorphism in the case group was: GG 31.6). The frequency of allelic distribution was 54.5% and 45.4% respectively. In the control group, the frequency of genotype distribution was: GGG 37.6%, and the frequency of allelic distribution was 10. 8%. The frequency of allelic distribution was 10. 8% and 36. 6% respectively (P < 0. 05, P < 0. 05). The frequency of CC genotype (P0. 024) and C allele (P0. 046) in the case group were higher than those in the control group. There were significant differences in the incidence of arthralgia among the three genotypes in the case group (P 0.05), and the incidence rate of CC genotype was higher than that of GG. GC genotype; The difference of CRP level in laboratory was statistically significant (P 0.05). The CRP level of CC genotype was higher than that of GG. The distribution frequency of three genotypes of GC genotypes, I. e., the polymorphism of STAT3 rs744166 gene, was 20. 4%, and 59. 2% of TC0. 2 was CC20. 4). The frequency of allelic distribution was 50.0% and 50.0% respectively. The frequency of genotype distribution in the control group was: TC56.3and CCC19.7. the frequency of allele distribution was 52.1% and 47.9% respectively. There was no significant difference in genotype and allelic frequency between case group and control group (P 0.05). Hemoptysis was found among three genotypes in case group. The incidence of hemoptysis in TT genotype was higher than that in TCCC genotype and TC genotype was higher than that in TT genotype. The renal pathological scores of CC genotype. TC genotype were higher than that of TTN CC genotype. Conclusion the polymorphism of STAT3 rs2293152 gene may be associated with the genetic susceptibility of AAV in Chinese Han population in Guangxi. The frequency distribution of CC genotype and C allele may be related to the incidence of arthralgia and the level of CRP in patients with AAV. The polymorphism of STAT3 rs744166 gene may be associated with hemoptysis in patients with AAV. The incidence of hematuria and the pathological score of AICI were correlated, but it may not be related to the genetic susceptibility of AAV.
【作者单位】：广西医科大学第二附属医院肾内科;广西医科大学第一附属医院肾内科;
【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)
【分类号】：R593.2
【正文快照】： 原发性抗中性粒细胞胞浆抗体(ANCA)相关性小血管炎(ANCA associated vasculitis,AAV)是一种自身免疫性系统性小血管炎,包括肉芽肿性多血管炎(granulomatosis with polyangiitis,GPA)、显微镜下多血管炎(microscopic polyangitis,MPA)、嗜酸性粒细胞性肉芽肿性多血管炎(eosinop

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