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目的 研究细胞毒T淋巴细胞相关抗原4(CTLA- 4)基因外显子1的49位点A/G和启动子- 318位点C/T多态性与溃疡性结肠炎(UC)的相关性。方法 采用序列特异性引物聚合酶链反应(PCR -SSP)方法,检测82例中国湖北汉族溃疡性结肠炎患者(UC)以及204 例健康对照者CTLA- 4 基因外显子1的49位点A/G和启动子-318位点C/T的基因型和单倍型。结果 UC患者CTLA -4 A+49G和C- 318T基因型与正常对照组间差异无统计学意义(P>0.05),且与性别无关。在单倍型分析中,UC患者CTLA -4单倍型2,3(C-318 G49/T-318 A49)显著低于正常人群(26%比41%,P<0.05,OR=0.4918,95%CI:0.2784~0.8688)。结论 UC患者CTLA- 4 基因A+49G和C -318T单倍型2,3 与UC呈负相关。
Objective To investigate the association of A / G 49 locus and promoter-318 locus C / T polymorphism with exon 1 of cytotoxic T lymphocyte associated antigen 4 (CTLA-4) gene with ulcerative colitis (UC) Sex. Methods A total of 49 A loci of exon 1 of CTLA-4 gene in 82 patients with ulcerative colitis (UC) and 204 healthy controls from Han nationality in Hubei province of China were detected by polymerase chain reaction-sequence-specific polymerase chain reaction (PCR-SSP) / G and promoter-318 site C / T genotypes and haplotypes. Results The genotypes of CTLA - 4 A + 49G and C - 318T in UC patients were not significantly different from those in normal controls (P> 0.05). In haplotype analysis, CTLA-4 haplotypes 2 and 3 (C-318 G49 / T-318 A49) in UC patients were significantly lower than those in the normal population (26% vs. 41%, P <0.05, OR = % CI: 0.2784 ~ 0.8688). Conclusion The CTLA-4 gene A + 49G and C-318T haplotypes 2, 3 of UC patients were negatively correlated with UC.