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CTLA-4基因多态性及其相关蛋白与原发性胆汁性胆管炎的相关性

Correlation between CTLA-4 gene polymorphism and its related proteins and primary biliary cholangitis
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摘要 目的 研究细胞毒性T淋巴细胞抗原4(CTLA-4)基因多态性及其相关蛋白与原发性胆汁性胆管炎(PBC)的关系,为诊断PBC寻找新的血清学指标。方法 选取2019年10月至2021年10月重庆市中医院PBC患者共78例为病例组,选择同时期本院的健康体检者60例为对照组,检测两组的rs231775、rs3087243单核苷酸多态性(SNP),及外周血全CTLA-4、可溶性CTLA-4(sCTLA-4)的浓度,并分析CTLA-4、sCTLA-4与ALT、AST、GGT、ALP的相关性。结果 rs231775、rs3087243经PCR扩增后目的基因为分别为534 bp、283 bp。病例组rs231775的AG基因型比例、GG基因型比例、G等位基因频率及rs3087243的GA基因型比例均明显高于对照组,差异有统计学意义(P<0.05),且四者与PBC患病风险存在差异无统计学意义(P<0.05),两组rs3087243等位基因频率比较,差异无统计学意义(P>0.05);病例组外周血CTLA-4、sCTLA-4浓度明显低于对照组,差异有统计学意义(P<0.05);相关性分析显示CTLA-4水平与GGT水平成负相关(P<0.05),sCTLA-4与ALT、AST、GGT、ALP差异无统计学意义(P>0.05);ROC曲线显示CTLA-4诊断为PBC的的敏感度为85.00%、特异度为71.40%,曲线下面积(AUC)为0.827。结 论rs231775的AG基因型、GG基因型、G等位基因与PBC患病风险存在明显相关性;CTLA-4与GGT存在明显相关性,并且能够对PBC做出较准确诊断。 Objective To study the relationship between the cytotoxic T lymphocyte antigen 4(CTLA-4)gene polymorphism and its related proteins and primary biliary cholangitis(PBC),and to find new serological indicators for the diagnosis of PBC. Methods A total of 78 patients with PBC in Chongqing Hospital of Traditional Chinese Medicine from October 2019 to October 2021 were selected as the PBC group.At the same time,60 healthy were selected from our hospital as the control group. The rs231775,rs3087243single nucleotide polymorphisms,the CTLA-4 and sCTLA-4 concentrations in peripheral blood between the two groups were detected,and the correlation between CTLA-4,sCTLA-4 and ALT,AST,GGT,ALP was analyzed. Results The target genes of rs231775 and rs3087243 were 534 bp and 283 bp respectively after PCR amplification. The AG genotype ratio,GG genotype ratio,G allele frequency of rs231775 and GA genotype ratio of rs3087243 in the case group were significantly higher than those in the control group,and the difference was statistically significant(P<0.05). There was a significant correlation between the four and the risk of PBC(P<0.05),and there was no significant difference in the frequency of rs3087243 alleles between the two groups(P>0.05). The concentrations of CTLA-4 and sCTLA-4 in the PBC group were significantly lower than those in the control group(P<0.05),and the difference was statistically significant. Correlation analysis showed that CTLA-4 was negatively correlated with GGT levels(P<0.05),while sCTLA-4 had no significant correlation with ALT,AST,GGT,and ALP(P>0.05). The ROC curve showed that the sensitivity of CTLA-4 to diagnose PBC was 85.00%,the specificity was 71.40%,and the area under the curve(AUC)was 0.827. Conclusion The AG genotype,GG genotype and G allele of rs231775 are significantly correlated with the risk of PBC.CTLA-4 is significantly correlated with GGT,and can make a more accurate diagnosis of PBC.
作者 冯婧 黄祎 王琴 黄山 FENG Jing;HUANG Yi;WANG Qi;HUANG Shan(School of clinical Laboratory Science,Guizhou Medical University,Guiyang,Guizhou,China,550000;Department of Hepatology,Chongqing Hospital of Traditional Chinese Medicine,Chongqing,China,40021;Department of Pharmacy,Chongqing Hospital of Traditional Chinese Medicine,Chongqing,China,400021)
出处 《分子诊断与治疗杂志》 2023年第2期244-248,共5页 Journal of Molecular Diagnostics and Therapy
基金 重庆市自然科学基金(cstc2021jcyj-msxmX0390) 重庆市英才·创新创业示范团队(CQYC201903172)。
关键词 CTLA-4 基因多态性 原发性胆汁性胆管炎 SCTLA-4 CTLA-4 Gene polymorphism Primary biliary cholangitis sCTLA-4
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