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目的研究细胞毒性T淋巴细胞相关抗原-4(CTLA-4)基因CT60标记与系统性红斑狼疮(SLE)的相关性。方法利用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)对45例SLE患者和63名健康对照者进行CT60基因分型。采用荧光定量(FQ)-PCR法进行3′-非翻译区(3-′UTR)微卫星阵列(AT)n多态性基因分型,对CTLA-4基因3-′UTR微卫星阵列(AT)n与-1722T/C、-319C/T、+49A/G基因多态性进行分析,以求证CTLA-4单倍型与SLE的关系。结果在CT60A/G分型中,SLE患者AA基因型频率明显低于对照组(20.0%vs25.4%),P=0.003,校正后P(Pcorr)=0.009,优势比(odds ratio,OR)=0.58,95%CI 0.40~0.85。即病例组G基因表型频率高于对照组(80.0%vs74.6%),P=0.009,Pcorr=0.006,OR=1.71,95%CI 1.18~2.49。患者组与对照组的等位基因频率分布也明显不同(P=0.01),Pcorr=0.02,OR(等位基因G)=1.32,95%CI 1.06~1.65。结合不同基因多态性资料进行分析后,发现2个中性单倍型基因:+49A;(AT)7;CT60A和+49G;(AT)8~19;CT60G。此外,也发现易感性单倍型基因+49A;(AT)>19;CT60G。结论CTLA-4基因3-′UTR为SLE易感性基因片段。
Objective To study the correlation between CT60 marker of cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene and systemic lupus erythematosus (SLE). Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype CT60 in 45 SLE patients and 63 healthy controls. The 3’UTR microsatellite (AT) n polymorphism was genotyped by Fluorescence Quantitative (FQ) -PCR and the genotypes of CTLA-4 gene 3 -’UTR microsatellite array ) n and -1722T / C, -319C / T, +49 A / G polymorphisms were analyzed in order to verify the relationship between CTLA-4 haplotype and SLE. Results The frequency of AA genotype in patients with SLE was significantly lower than that in controls (20.0% vs 25.4%, P = 0.003, Pcorr = 0.009, odds ratio (OR) = 0.58, 95% CI 0.40 ~ 0.85. The frequency of G phenotype in case group was higher than that in control group (80.0% vs 74.6%, P = 0.009, Pcorr = 0.006, OR = 1.71, 95% CI 1.18-2.49). The allele frequency distribution was also significantly different between the patient group and the control group (P = 0.01), Pcorr = 0.02, OR (allele G) = 1.32, 95% CI 1.06-1.65. Combined with different genetic polymorphism data analysis, we found two neutral haplotype genes: +49 A; (AT) 7; CT60A and +49 G; (AT) 8-19; CT60G. In addition, the susceptibility haplotype gene + 49A; (AT)> 19; CT60G was also found. Conclusion The CTLA-4 gene 3-UTR is a SLE susceptibility gene fragment.