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中文摘要：
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（P〈0.05）.病例组3种基因型间关节痛发生率的差异有统计学意义（P〈0.05）,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（P〈0.05）,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（P〉0.05）.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（P〈0.05）,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（P〈0.05）.结论 （1）中国广西汉族人群中STAT3 rs2293152基因?
英文摘要：
Objective To investigate the correlation between STAT3 polymorphisms in rs2293152 and rs744166 gene and primary ANCA associated vasculitis （AAV） in Guangxi Chinese Han participants.Methods The genotypes of 98 patients with AAV （case group） were initially identified by PCR-RFLP and 213 healthy Chinese Han participants with matched age and gender enrolled in control group.After that, case-control study, clinical and pathologic analysis were conducted.Results The frequency distributions of STAT3 rs2293152 genotype GG, GC and CC in AAV patients were 31.6%, 45.9% and 22.4%, respectively;and were 37.6%, 51.6% and 10.8%, respectively, in controls.The frequencies of allele G and C in the AAV patients were 54.5% and 45.4%, respectively;and were 63.4% and 36.6%, respectively, in controls.The frequencies of CC genotype and C allele were significantly higher in case group than those in control group （P〈0.05）.It was found that the significant difference in the arthralgia prevalence among GG, GC and CC genotypes, and it was more common in the CC genotype;and so was CRP level.No significant difference was found in the STAT3 rs744188 of neither genotype distribution nor allele frequencies between the patients and the controls （P〉0.05）.There were significant differences in the incidences of hemoptysis and hematuria among TT, TC and CC genotypes in case group.The incidences of hemoptysis in TT genotype was higher than those in TC and CC, as the incidence of hematuria in TC genotype was higher than those in TT and CC genotypes.The pathological score AI and CI in TC genotype were significantly higher than those in TT and CC genotypes.Conclusion The polymorphism of STAT3 rs2293152 gene in Chinese Han population may be correlated to the genetic susceptibility of AAV.Meanwhile, the frequency distribution of CC genotype and C allele may be correlated to the incidence of arthralgia and the level of CRP in AAV patients.The polymorphism of STAT3 rs744166 gene in AAV patients may be related to the incidences of hemoptysi
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