ANCA相关疾病与TCRCα-575A/G基因多态性的关联研究

Relationship between TCRCα-575A/G polymorphism and ANCA associated diseases

目的探讨T细胞受体α链稳定区(TCRCα)基因-575A/G多态性与汉族人群ANCA相关疾病的相关关系。方法 107例ANCA相关疾病汉族患者与196例汉族健康人作对照,PCR-RFLP鉴定其TCRCα-575A/G基因型,进行病例-对照研究与临床分析。结果①TCRCα基因-575A/G存在AA(21.50%)、AG(41.12%)和GG(37.38%)3种基因型和A(42.06%)、G(57.94%)两种等位基因。与正常人对照组相比,分布频率差异均有显著性,P<0.05;②P-ANCA阳性的患者和C-ANCA阳性的患者基因型与等位基因分布比较,基因型及等位基因分布频率,差异均无显著性,P>0.05;③TCRCα基因-575A/G3种基因型的患者间相比较,除胃肠道损害方面差异有显著性,P<0.05;在性别、发热、皮疹、各脏器损伤发生率方面,差异均未见显著性,P>0.05。结论 TCRCα基因-575A/G多态性可能与ANCA相关疾病遗传易感性相关,与胃肠道损害相关,AG基因型的患者可能易于胃肠道损害发生。

【Objective】To investigate the relationship between TCRCα-575A/G polymorphism and ANCA associated vasculitis in Chinese Han population.【Methods】TCRCα-575A/G was genotyped by PCR-RFLP.Case-control study was performed（patient：healthy control=107：196）;clinical data and indexes of the patients of different genotypes were compared.【Results】Three kinds of genotype were authentic which were AA（21.50%）,AG（41.12%） and GG（37.38%） with accordingly two types of allele of A（42.06%） and G（57.94%）.Significant differences were found in both genotype distribution and allele frequencies between patients and control（P〈0.05）.However,there was no statistic difference of genotype distribution and allele frequencies in the patient groups of P-ANCA and C-ANCA（P〈0.05）.Clinical study showed that significant differences were in gastrointestinal tract damage rate in different genotyped patients（P〈0.05）,AG gene typed patients had the higher gastrointestinal tract damage rate.【Conclusions】In Chinese Han population,TCRCα-575A/G polymorphism might be related to susceptibility to ANCA associated diseases and to higher gastrointestinal tract damage rate in AG genotyped patients.