Graves病白细胞减少与CTLA-4基因多态性的相关性

Study on the Relativity of Leukopenia and Cytotoxic T Lymphocyte Associated Antigen-4 Gene Polymorphism in Graves' Disease

目的:探讨天津地区汉族人Graves病(GD)合并白细胞减少,与细胞毒性T淋巴细胞相关抗原-4(CTLA-4)基因外显子1第49位点A/G和启动子-318位点C/T二态性的相关性。方法:运用PCR-RFLP技术分析40例GD白细胞减少患者、56例GD白细胞正常患者及60例正常人CTLA-4基因、外显子1第49位点和启动子-318位点基因型,计算并比较各组基因型和等位基因频率。结果:GD组第1外显子第49位点基因型GG和等位基因G的频率明显高于正常对照组,3组人群的CTLA-4基因启动子-318位点的基因型与等位基因的分布差别无统计学意义。GD白细胞减少组与GD白细胞正常组之间基因型、等位基因的分布差别无统计学意义。结论:CTLA-4基因外显子1G49可能是天津地区汉族人Graves病的易感基因,而其与启动子-318位点可能不是天津地区汉族人GD合并白细胞减少的易感基因。

Objective： To study the relativity of Graves＇disease leukopenia and the A/G dimorphism at position 49 of exon 1 and C/T dimorphism at position 318 of promoter in cytotoxic T lymphocyte associated antigen-4 （CTLA-4） gene in Hart nationality of Tianjin. Methods： The position 49 of exon 1 and position 318 of promoter gene types of CTLA-4 gene in 40 leukopenia GD patients, 56 normal leukocyte GD patients and 60 controls were analyzed by PCR-RFLP method. The gene types and allele frequencies were calculated and compared among the three groups. Results： The gene frequencies at position 49 of exon 1 GG and allele G in GD patients were significantly higher than those of the controls. There were no significant differences of the allele frequencies at position-318 of promoter in CTLA-4 gene among the three groups. There was no significant difference of gene type and allele frequency between leukopenia GD patients and normal leukocyte. Conclusion： Exon 1 G49 of CTLA-4 may be the susceptible gene of GD and promoter 318 of CTLA-4 might not be the susceptible gene of leukopenia GD in Han nationality of Tianjin.