T细胞受体α链稳定区基因-575A/G与原发抗中性粒细胞抗体相关性小血管炎的关联分析

目的 探讨T细胞受体α链稳定区(TCRCα)基因-575 A/G多态性与汉族人群原发抗中性粒细胞抗体(ANCA)相关性小血管炎的关联关系.方法 86例原发ANCA相关性小血管炎汉族患者与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 86例患者中,TCRCα基因-575 A/G存在从、AG、GG 3种基因型和A、G 2种等位基因,与正常对照组相比,分布频率差异均无统计学意义(P均>0.05);TCRCα基因-575A/G基因型不同的患者组(AA组、AG组、GG组)相比,在收缩压[(127.47±24.18)、(124.11±25.21)、(148.92±19.23)mm Hg]、舒张压[(75.35±14.12)、(74.50±13.01)、(85.46±9.40)mm Hg]、红细胞数[(3.41±1.01)×109/L、(3.46±1.04)×109/L、(2.68±0.67)×109/L]、血红蛋白水平[(90.45±20.69)、(100.66±29.80)、(77.61±15.81)g/L]方面,差异均有统计学意义(P均<0.05),GG基因型患者组有较高的血压和较重的贫血程度(P均<0.05);平均(16.0±36.8)个月的随防,慢性肾功能衰竭组与与肾功能正常组相比较,3种基因型和两类等位基因的分布频率差异均无统计学意义(P均>0.05).结论 汉族人群中,TCRCα基因-575 A/G多态性可能和AN-CA相关性小血管炎的遗传易感性不相关;与慢性肾功能衰竭的发生不相关;可能与临床上血压水平和贫血程度相关,G等位基因的患者,可能发生较高的血压、贫血程度.

Relationship of TCRCα-575A/G polymorphism with anti-neutrophil antibody associated vasculitis in Chinese Han population

Objective To investigate the relationship of TCRCα-575A/G polymorphism with anti-neutrophil antibody(ANCA) associated vasculitis in Chinese Han population. Methods 86 cases of ANCA associated vasculi-tis in Chinese Han population and 196 healthy subjects were enrolled. TCRCα-575A/G was genotyped by PCR-re-striction fragment length polymorphism (PCR-RFLP) assay. Case-control study was performed. Results No signifi-cant difference was found in either genotype distribution(AA,AG,GG) or allele frequencies between 86 patients and healthy subjects(P>0.05);But significant differences between AA group, AG group, and GG group in systolic pres-sure[(127.47±24.18)、(124.11±25.21)、(148.92±19.23) mm Hg],diastolic pressure [(75.35±14.12)、 (74.50±13.01)、(85.46±9.40) mm Hg],red blood cell count[(3.41±1.01)×109/L、(3.46±1.04)× 109/L、(2.68±0.67)×109/L] and hemoglobin [(90.45±20.69)、(100.66±29.80)、(77.61±15.81) g/L (P<0.05 for each) were found. The patients in GG group had higher blood pressure and more severe anaemia;By following the patients about (16.0±36.8) months,no statistics significance was found between groups with and without chronic renal failure in distributions and genetypes of TCRCα-575A/G (P>0.05 ). Conclusions In Chi-nese Han population,TCRCα-575A/G polymorphism might not be related to genetic susceptibility and chronic renal failure of ANCA associated vaseulitis;but G allele might be associated with more serious anaemia and hypertension.