IL-1、IL-10及TNF-β单核苷酸多态性与福建泉州地区汉族人群类风湿性关节炎的相关性研究  

Association of single nucleotide polymorphisms of IL-1, IL-10 and TNF-β with rheumatoid arthritis in Chinese Han population from Quanzhou

作　　者：张淑花 杨会勇 郑晨娜 蔡志谋[3] 沈晓丽[4] ZHANG Shu-hua;YANG Hui-yong;ZHENG Chen-na;CAI Zhi-mou;SHEN Xiao-li(Clinical Laboratory of Community Health Center,Jiangnan Subdistrict,Licheng District,Quanzhou 362000,China;School of Biomedical Science,Huaqiao University,Quanzhou 362000,China;Department of Neurosurgery,Fujian Medical University Second Affiliated Hospital,Quanzhou 362000,China;Fujian Key Laboratory of Cardiovascular Diseases,Provincial Clinical College,Fujian Medical University,Fuzhou 350001,China)

机构地区：[1]福建省泉州市鲤城区江南街道社区卫生服务中心检验科,福建泉州362000 [2]华侨大学生物医学学院,福建泉州362000 [3]福建医科大学附属第二医院神经外科,福建泉州362000 [4]福建医科大学省立临床医学院,福建省心血管病重点实验室,福建福州350001

出　　处：《中国病理生理杂志》2020年第2期354-359,共6页Chinese Journal of Pathophysiology

基　　金：国家自然科学青年科学基金资助项目(No.31200979);华侨大学中青年教师科技创新资助计划(No.ZQN-PY319);福建省自然科学基金资助项目(No.2016Y0063);福建省自然科学基金资助项目(No.2015J01138)

摘　　要：目的:探讨福建泉州地区汉族人群类风湿性关节炎(RA)患者炎症相关因子的单核苷酸多态性(SNP)位点的分布特征,并研究其与RA易感性的关系。方法:选取福建泉州地区汉族人群RA患者155例(RA组)和健康体检者170例(对照组)为研究对象,采用全血三引物等位基因特异性扩增(TRIP-ASPCR)技术对RA相关的SNP位点进行基因分型。运用SPSS 19.0统计分析软件,采用卡方检验和Logistic法分析Hardy-Weinberg遗传平衡吻合度、SNP位点等位基因与RA发病关联强度,并利用SHEsis软件对所选SNP位点进行连锁不平衡分析和单倍型分析。结果:对照组中有1个SNP位点符合Hardy-Weinberg平衡检验(P>0.05),RA组有1个SNP位点符合Hardy-Weinberg平衡检验(P>0.05);在对照组和RA组之间有4个SNP位点的等位基因频率差异存在统计学意义(P<0.05,OR>1),与RA呈正相关,且相关性明显。结论:RA患者中,存在4个SNP位点(IL-10 rs1800893、IL-1βrs16944、TNF-βrs2009658和TNF-βrs1041981)与福建泉州地区汉族人群的RA呈正相关,且相关性明显;各位点分别对应的等位基因G、G、C和C可能作为福建泉州地区汉族人群RA的一个潜在遗传标志。AIM: To explore the genetic characteristics of enrolled rheumatoid arthritis and genetic mechanisms of rheumatoid arthritis(RA) by studying the associations of single nucleotide polymorphisms(SNPs) with rheumatoid arthritis in Chinese Han population from a very high prevalence area of rheumatoid arthritis, Quanzhou. METHODS: A case-control study of 155 rheumatoid arthritis patients(RA group) and 170 normal controls(control group) from Quanzhou were enrolled. All of 5 SNPs were genotyped by allele-specific polymerase chain reaction(PCR) and analyzed by SPSS 19.0. χ^2-test was applied to predict Hardy-Weinberg equilibrium, and allele and genotype frequencies between RA group and control group were compared. Logistic regression models were used to analyze SNPs. Link disequilibrium analysis and haplotype analysis were performed with SHEsis software. RESULTS: Total of 1 SNP in control group was confirmed by Hardy-Weinberg equilibrium test(P>0.05), and 1 SNP in RA group was confirmed by Hardy-Weinberg equilibrium test(P>0.05). Allele frequencies of 4 SNPs were significantly different between control group and RA group(P <0.05). CONCLUSION: The SNPs of IL-10 rs1800893, IL-1β rs16944, TNF-β rs2009658 and TNF-β rs1041981 were associated with the incidence of rheumatoid arthritis in Chinese Han population of Quanzhou. Allele G of IL-10 rs1800893, allele G of IL-1β rs16944, allele C of TNF-β rs2009658 and allele C of TNF-β rs1041981 can be used as potential genetic markers for the diagnosis of RA in Quanzhou, Fujian.

关 键 词：类风湿性关节炎 炎症因子 单核苷酸多态性 等位基因 

分 类 号：R363.2[医药卫生—病理学] R593.22[医药卫生—基础医学]