CTLA-4基因多态性与强直性脊柱炎的关联：一项病例对照研究。

Association between CTLA-4 gene polymorphism and ankylosing spondylitis: a case-control study.

作者信息

Wang Nai-Guo, Wang Da-Chuan, Tan Bing-Yi, Wang Feng, Yuan Ze-Nong

机构信息

Department of Spinal Surgery, Provincial Hospital Affiliated to Shandong University Jinan 250021, Shandong, China.

出版信息

Int J Clin Exp Pathol. 2015 Jun 1;8(6):7421-5. eCollection 2015.

PMID:26261646

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4525980/

Abstract

AIMS

The aim of our study was to evaluate the association between CTLA-4 polymorphisms (+49A/G, -318C/T and CT60A/G) and ankylosing spondylitis (AS) susceptibility.

METHODS

A total of 120 AS cases and healthy controls, matched on the age and gender, were enrolled in the study. Polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) were used to determine the gentypes of +49A/G, -318C/T and CT60A/G polymorphisms. Genotype distribution in control group was assessed by Hardy Weinberg Equilibrium (HWE) test. Odds ratio (OR) with 95% confidence interval (95% CI) were adopted to evaluate the relationship of CTLA-4 polymorphisms and AS susceptibility.

RESULTS

In our study, genotype distribution of the three polymorphisms in control group was consistent with the HWE (P > 0.05). The genotype analysis showed that AA genotype of + 49A/G polymorphism could increase the risk for AS (OR=2.357, 95% CI=1.127-4.930). Moreover, the frequency of A allele was also presented as a risk factor for AS. Additionally, AA genotype and A allele of CT60A/G appeared to be related with AS susceptibility (OR=2.610, 95% CI=1.047-6.510; OR=1.751, 95% CI=1.160-2.641). However, the T allele of -318C/T appeared to be a protective factor for AS (OR=0.383, 95% CI=0.228-0.643).

CONCLUSION

In summary, there existed significant association between CTLA-4 gene polymorphisms and increased or decreased risk for AS.

摘要

目的

本研究旨在评估细胞毒性T淋巴细胞相关抗原4（CTLA-4）基因多态性（+49A/G、-318C/T和CT60A/G）与强直性脊柱炎（AS）易感性之间的关联。

方法

本研究共纳入120例AS患者及年龄、性别相匹配的健康对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测+49A/G、-318C/T和CT60A/G基因多态性的基因型。通过哈迪-温伯格平衡（HWE）检验评估对照组的基因型分布。采用比值比（OR）及95%置信区间（95%CI）评估CTLA-4基因多态性与AS易感性的关系。

结果

本研究中，对照组三种多态性的基因型分布符合HWE（P>0.05）。基因型分析显示，+49A/G多态性的AA基因型可增加AS发病风险（OR=2.357，95%CI=1.127-4.930）。此外，A等位基因频率也表现为AS的危险因素。另外，CT60A/G的AA基因型和A等位基因似乎与AS易感性有关（OR=2.610，95%CI=1.047-6.510；OR=1.751，95%CI=1.160-2.641）。然而，-318C/T的T等位基因似乎是AS的保护因素（OR=0.383，95%CI=0.228-0.643）。