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1.
目的 探讨pre-miR-146a基因rs2910164位点单核苷酸基因多态性及miR-146a表达与类风湿关节炎相关性.方法 采用聚合酶链反应-连接酶检测反应检测123例类风湿关节炎(RA)患者和220例健康对照者pre-miR-146a rs2910164位点基因多态性,应用实时荧光定量聚合酶链反应检测68例RA患者、10例骨关节炎(OA)患者及20例健康对照外周血单个核细胞中miR-146a的表达水平,并选取10例RA疾病活动患者行激素加免疫抑制剂正规治疗3个月后miR-146a表达水平的测定.收集并计算RA患者临床参数:发病年龄、性别、类风湿因子(RF)和抗环瓜氨酸肽(抗-CCP)抗体、RA疾病活动(DAS28≥3.2)、骨破坏(X>Ⅰ期).统计学处理采用X2检验、方差分析、t检验和Pearson相关分析.结果 RA组pre-miR-146a rs2910164位点的基因型频率和等位基因频率与健康对照组比较,差异无统计学意义(P均>0.05).RA患者pre-miR-146ars2910164位点基因型与发病年龄、性别、RF和抗-CCP抗体阳性率、RA疾病活动、骨破坏阳性率及miR-146a表达量均无相关性(P均>0.05).RA患者组miR-146a的表达量高于健康对照组和OA组(P均<0.01),后两组miR-146a的表达量无统计学差异(P>0.05).RA疾病活动组miR-146a表达高于非活动组和对照组(P均<0.01),后两组miR-146a的表达量无统计学差异(P>0.05).RA疾病活动患者治疗后miR-146a表达下降(P<0.05),DAS28评分降低(P<0.01).RA患者组miR-146a的表达与红细胞沉降率(ESR,即血沉)、C反应蛋白(CRP)及DAS28评分之间呈正相关(P均<0.01),与RF、抗-CCP抗体滴度无相关性(P均>0.05).结论 我国汉族人群中,pre-miR-146a rs2910164位点多态性与RA的易感性、临床参数及miR-146a的表达无相关性,RA患者外周血单个核细胞miR-146a表达上调,其表达水平与RA病情活动有关,miR-146a的检测可能是RA病情活动的一个有用的判断指标.  相似文献   

2.
目的探讨信号转导子与转录激活子4(STAT4) rs7574865和miRNA146a rs2910164基因单核苷酸多态性(SNP)与武陵山地区类风湿性关节炎(RA)的相关性。方法选择287例RA患者和同期305例体检的健康人群为对照组,采用多重PCR结合高通量测序技术(Hi-SNP)测定RA患者和同期对照人群rs7574865和rs2910164位点基因型,用χ2检验比较分析两组人群中基因型和等位基因型频率分布,并分析这两个位点多态性与RA发病风险的相关性以及与患者类风湿因子(RF)和抗环瓜氨酸肽(ACCP)抗体水平的相关性。结果 rs7574865位点的基因型频率在两组间存在统计学差异,TT基因型和T等位基因均是RA的易感因素(OR=2. 42,95%CI:1. 37~4. 28; OR=1. 43,95%CI:1. 12~1. 82),同时显性模型和隐性模型也显示与RA的发病易感相关。rs2910164位点单核苷酸多态性与RA易感性无关,并且rs7574865和rs2910164位点多态性与RF和ACCP抗体水平均无显著相关性。结论 STAT4 rs7574865位点单核苷酸多态与武陵山地区RA的发病相关,与患者RF和ACCP抗体水平无关;而miRNA146a rs2910164多态性与RA无显著相关性。  相似文献   

3.
目的 探讨HTRA1基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)和类风湿性关节炎(rheumatoid arthritis,RA)及其患者血清类风湿因子(rheumatoid factor,RF)、C反应蛋白((C-reactive protein, CRP)之间的相关性.方法 采用Snapshot法测定344例RA患者和288名正常健康人HTRA1基因5个SNPs(rs2014307、rs2248799、rs2300433、rs714816、rs2268356)位点基因型,终点散射比浊法测定RA患者血清RF和CRP水平.结果 RA组HTRA1基因SNPs(rs2014307、rs2248799、rs2300433、rs714816、rs2268356)基因型与正常对照组间差异均无统计学意义(P>0.05),单倍型分析也显示H豫A1基因RA组与正常对照组间差异无统计学意义(P>0.05),RA患者HTRA1基闪SNPs位点(rs2014307、rs2248799、rs714816、rs2268356)不同基因型之间血清RF水平比较差异无统计学意义(P>0.05),而rs2300433位点基因型(AA+AG)组的RF水平明显高于GG组((P<0.05).结论 已分析的与HTRA1基因相关的5个SNPs与中国汉族人种RA遗传易感性不相关,HTRA1基因rs2300433位点不同基因型RA患者体内RF水平有差别,HTRA1基因表达的丝氨酸蛋白酶可能参与了RA患者RF的表达.  相似文献   

4.
目的:研究肿瘤坏死因子α(TNF-α)基因单核苷酸多态性(SNP)与中国北方汉族人类风湿性关节炎(RA)易感性的相关性。方法:选取98例RA和100例正常对照者作为研究对象,应用Sequenom飞行时间质谱技术,对TNF-α基因的SNP点rs1800629(-308 A/G)、rs361525(-238 A/G)、rs1799724(-850 C/T)和rs1800610(+489 C/T)进行基因分型,用SPSS 11.5软件对数据资料进行统计分析。结果:RA患者TNF-α多态性位点rs1799724、rs1800610和rs361525的基因型频率及等位基因频率与正常对照组比较差异无统计学意义(P>0.05),而TNF-αrs1800629的基因型频率及等位基因频率与正常对照组比较有明显的统计学差异(P<0.05)。TNF-αrs1800629 G等位基因及GG基因型可以提高RA的发病风险性。结论:NF-α基因SNP位点rs1800629可能与北方汉族人RA发病易感性相关。  相似文献   

5.
目的探讨PD-1基因多态性与肺结核发病风险以及临床特征的相关性。方法采用PCRRFLP分析方法,检测262例肺结核患者和255例健康志愿者基因组DNA中PD-1基因SNP位点rs2227981和rs2227982基因型和等位基因频率的分布情况,分析PD-1基因多态性与肺结核易感性的关系;并收集了肺结核患者的临床资料,考察PD-1基因多态性与肺结核临床特征的相关性。结果对照组rs2227981和rs2227982基因型和等位基因频率的分布符合Hardy-Weinberg遗传平衡定律;rs2227981位点T等位基因(OR=2.721,95%CI:2.003~3.697,0.001)、rs2227982位点C等位基因(OR=1.614,95%CI:1.262~2.064,0.001)均与肺结核易感性相关;与rs2227981 CC基因型相比,携带PD-1 rs2227981 CT或TT基因型者具有更高的肺结核发病风险(OR=2.937,95%CI:2.018~4.274,0.001),且患者病灶范围较大(=0.009),痰菌阳性率较高(0.001);与rs2227982 TT基因型相比,携带rs2227982 TC或CC基因型者具有更高的肺结核发病风险(OR=1.706,95%CI:1.187~2.452,=0.004),且患者结核空洞的发生率较高(=0.021)。结论 PD-1基因rs2227981和rs2227982位点SNP多态性与肺结核易感性及临床特征相关。  相似文献   

6.
为探讨早期RA患者血清炎症指标与临床特征、转归的相关性,选择2010年6月至2015年6月于赣南医学院第三附属医院收治的72例RA患者作为RA组,另选择70例同期健康体检者为健康组。采用免疫比浊法检测血清CRP及RF,ELISA双抗体夹心法检测抗环瓜氨酸肽(cyclic citrullaminopeptide,CCP)抗体,魏氏法检测ESR。比较RA患者服药前后临床指标及转归情况,同时采用Pearson相关性分析法对RA患者血清炎症指标与临床特征、转归的关系进行分析。结果显示,RA组CRP、ESR、RF及抗CCP抗体水平均显著高于健康组(P0.05)。治疗后RA患者晨僵时间、休息痛、健康评估问卷等临床指标和CRP、RF、ESR等炎症指标均显著低于治疗前(P0.05)。所有患者治疗后病情均有不同程度好转,早期RA患者转归分为三类:43例缓慢逐步进展,20例进展迅速,9例可控制。DAS28积分与CRP、ESR、RF及抗CCP抗体的相关系数分别为0.266、0.255、0.291和0.382(P0.05);转归与CRP、ESR、RF及抗CCP抗体的相关系数分别为0.195、0.269、0.288和0.355(P0.05)。多元逐步回归分析结果显示,CRP、ESR、RF及抗CCP抗体与DAS28积分及转归呈正相关。提示联合检测CRP、ESR、RF及抗CCP抗体对于评估早期RA患者疾病活动度及转归具有一定价值。  相似文献   

7.
目的比较类风湿关节炎(rheumatoid arthritis,RA)患者血清中抗肽酰基精氨酸脱亚氨酶4(PADI4)抗体水平和其它风湿病组及正常对照组间的差异,以评估其在RA诊断中的价值。方法采用酶联免疫吸附法(enzyme-linked immunosorbentassay,ELISA)检测患者血清中抗PADI4抗体水平,并研究其与RA患者DAS28评分、抗CCP抗体、抗角蛋白抗体(anti-keratinantibody,AKA)、类风湿因子(rheumatoid factor,RF)等指标的相关性。结果RA患者血清中抗PADI4抗体阳性率为47%,明显高于其它风湿性疾病患者和健康对照组(P<0.05)。抗PADI4抗体对RA诊断的敏感性为43%,特异性为92%。相关性分析显示抗PADI4抗体水平与DAS28评分、抗CCP抗体无相关性(r=-0.025,P=0.82;r=-0.058,P=0.60)。RF阴性患者PADI4抗体阳性50%;AKA阴性的患者PADI4抗体阳性43%;抗CCP抗体阴性的患者抗PADI4抗体阳性60%。结论RA患者血清中抗PADI4抗体有较高的诊断价值,特别有助于RF、抗CCP...  相似文献   

8.
抗CCP抗体和RF联检在RA诊疗中的临床价值   总被引:1,自引:0,他引:1  
目的:研究抗环瓜氨酸肽(anti-cyclic citrullinated peptide,Anti-CCP)(抗CCP抗体)和RF的检测在类风湿关节炎(RA)诊疗中的临床价值。方法:分别用酶联免疫吸附试验(ELISA)、BeckMan全自动蛋白分析仪同时检测早期RA组(病程〈1年)42例,RA组(病程〉1年)40例,非RA对照组40例患者血清抗CCP抗体和RF。结果:早期RA组、RA组的抗CCP抗体、RF阳性率显著高于非RA对照组(P〈0.05)RA组抗CCP水平显著高于早期RA组(P〈0.01),两者RF无显著差别(P〉0.05)。RA组与早期RA组CCP抗体与RF二者无相关性。结论:联检抗CCP抗体、RF有助于类风湿的早期诊断和预测病情的进展。  相似文献   

9.
目的:分析湖北地区人群免疫相关基因IRGM启动子区多态性与社区获得性肺炎(CAP)易感性的相关性。方法:以100例CAP患者为病例组,依据病情严重程度分为重症肺炎组(SCAP组,n=35)和非重症肺炎组(NSCAP=65), 80例健康者为对照组。采用一代测序技术对所有对象的IRGM基因3个SNP位点(rs4958842、rs4958843、rs4958846)进行检测,并分析IRGM各位点基因型、等位基因和单体型与CAP易感性的相关性。结果:病例组rs4958843位点TT基因型及T等位基因的分布频率高于对照组(P<0.05),且携带rs4958843突变型的患者WBC和CRP较野生型的携带者高(P<0.05);rs4958842和rs4958846位点的基因型和等位基因在病例组与对照组中的分布差异无统计学意义(P>0.05)。以上3个位点的基因型与等位基因在SCAP组和NSCAP组中的分布均无统计学差异(P>0.05)。对3个位点进行单体型构建,发现GTT单体型与CAP风险增加相关(OR=1.626,P<0.05)。结论:IRGM基因rs4958843...  相似文献   

10.
目的研究rs7574865(STAT4)、rs7234029(PTPN2)、rs2233945(PSORS1C1)及rs33980500(TRAF3IP2)多态性与兰州地区汉族人群类风湿性关节炎(RA)易感的相关性。方法针对rs7574865、rs7234029、rs2233945及rs33980500 4个位点设计引物,建立聚合酶链式反应-高分辨率熔解曲线分析(PCR-HRM)基因分型方法,对104例RA患者标本进行研究,并分析4个位点与兰州地区汉族人群RA易感的相关性。结果 rs2233945和rs7574865位点在病例组和对照组的基因型频率差异有统计学意义(χ~2=13.063,P=1.45×10~(-3);χ~2=31.044,P=1.81×10~(-7))。在显性模型下,rs2233945 T基因(杂合型GT和纯合突变型TT)携带者患RA的风险明显降低(OR=0.481,95%CI:0.222-0.081,P0.05);rs7574865 T基因(杂合型GT和纯合突变型TT)携带者患RA的风险明显增加(OR=4.586,95%CI:2.455-8.566,P0.05)。结论本研究自建的PCR-HRM基因分型方法可对rs7234029、rs7574865、rs2233945和rs33980500位点进行常规化检测。rs7574865和rs2233945多态性与兰州汉族人群RA易感性相关。  相似文献   

11.
MicroRNAs have shown different expression patterns in immune diseases. The present study explores the association of miRNA‐146a variant rs2910164 and of two IRAK1 (target of miR‐146a) polymorphisms rs3027898 and rs1059703 with psoriasic arthritis (PsA). Twenty‐nine PsA and 66 controls were enrolled in the study. To study if the statistical significant differences between patients with PsA and controls are independent to psoriasis, we expanded the study in 49 patients with ankylosing spondylitis (AS). Strong statistical significant difference was observed in IRAK1 rs3027898 polymorphism distribution between patients with PsA and controls (P = 0.003), as between patients with AS and controls (P < 0.001). Marginally significant difference was observed in distribution of IRAK1 rs1059703 genotypes between patients with PsA and controls (P = 0.058), but no difference was observed in miRNA‐146a rs2910164 distribution (P = 0.394). This is the first study that addresses IRAK1 rs3027898 polymorphism association with PsA susceptibility, but further studies could help to understand the extent of the proposed association.  相似文献   

12.
13.
T his study was aimed to evaluate the impact of both TIM‐1 rs41297579 G>A (?1454) and TIM‐4 rs7700944 polymorphisms on susceptibility to rheumatoid arthritis (RA) in a cohort of Egyptian population and to evaluate for the first time their relation to activity, severity, disease‐related disability and erosion. TIM‐1 rs41297579 G>A (?1454) and TIM‐4 rs7700944 gene polymorphisms were typed by RFLP for 128 patients with RA and 125 healthy controls. The A allele, A‐containing genotypes (GA and AA) of the TIM‐4 and GA haplotype were present with significant higher frequency in patients with RA than healthy controls (Pc < 0.001). These findings suggest that the A allele, A‐containing genotypes (GA and AA) and GA haplotype may be a susceptibility risk factor for RA [OR = 5.83 (3.6–9.4), OR = 9.41 (5.0–17.6) and OR = 4.21 (1.07–19.2), respectively]. No associations were found between TIM genotypes and disease activity, severity or presence of erosion. However, the RA patients with GA genotype of TIM‐4 have higher grade of rheumatoid factor (RF) positivity (P = 0.018), and have worse disease‐related disability (P = 0.007) and worse pain (0.025). TIM‐4 rs7700944 and not TIM‐1 rs41297579 G>A (?1454) is associated with RA in the present cohort of Egyptian and may be a risk factor for development of RA in Egyptian. Both SNPs have no effect on disease activity, severity or erosion. However, TIM‐4 GA genotype is associated with higher grade of RF positivity and worse disease‐related disability and pain.  相似文献   

14.
Matrix metalloproteinases (MMPs) are involved in joint destruction in rheumatoid arthritis (RA), and are strongly associated with levels of inflammation. To understand the relationship between MMP-1 and -3 variants and MMP levels in RA, we investigated the genotypic and haplotypic relationships of the MMP-1 and -3 genes with circulating levels of these MMPs. The genotypes of single-nucleotide polymorphisms (SNPs) rs1799750 (1G/2G, MMP-1 promoter), rs495366 (G/A, intergene), rs679620 (A/G, MMP-3 coding region) and rs3025058 (5A/6A, MMP-3 promoter) were determined in 430 RA patients. Each polymorphism was associated with serum levels of MMP-1 (P trend <0.0001 for each SNP), with haplotype 1G-G-A-5A associated with the highest level. The intergenic and MMP-3 SNPs were associated with MMP-1 levels independent of the MMP-1 promoter SNP. The MMP-3 SNPs were associated with serum MMP-3 level (P trend <0.0001 for each SNP), and were each associated with mean time-averaged disease activity (DAS28) in patients followed up for 2 years (P=0.003). Our findings indicate that several closely linked polymorphisms in the MMP-1-MMP-3 loci have an important role in determining the circulating levels of these MMPs in RA, and that MMP-3 polymorphism is associated with the level of disease activity over time.  相似文献   

15.

Objective

The purpose of this study was to examine the association of interleukin-1 receptor-associated kinase (IRAK1) polymorphisms (rs3027898, rs1059702) with systemic lupus erythematosus (SLE) in a Chinese Han population.

Methods

A total of 667 SLE patients and 667 healthy controls were collected in this study. The genotyping of polymorphisms (rs3027898, rs1059702) was determined by TaqMan allele discrimination assay on the 7300 real-time polymerase chain reaction system. The statistical analysis was conducted by chi square test or Fisher’s exact test.

Results

The frequency of C allele for rs3027898 in patients was significantly higher than in controls (C versus A: OR = 1.438, 95 % CI = 1.180–1.753, p < 0.001), and a similar association was shown in rs1059702 (A versus G: OR = 1.383, 95 % CI = 1.143–1.674, p = 0.001). Interestingly, the C allele of rs3027898 was associated with a decreased risk for patients with oral ulcers. However, no significant difference was detected in IRAK1 rs1059702 polymorphism and the clinical manifestations.

Conclusions

Our data demonstrate that the polymorphisms rs3027898 and rs1059702 of IRAK1 gene are associated with SLE in the Chinese Han population.  相似文献   

16.
目的探讨抗环瓜氨酸肽抗体(抗CCP抗体)检测对类风湿关节炎(RA)诊断的意义。方法采用酶联免疫吸附试验(ELISA)检测115份人血清的抗CCP抗体,同时采用免疫透射比浊法定量检测类风湿因子(RF),包括40例RA患者,45例其它风湿病患者,30名正常人;并分析抗CCP抗体与RF实验结果之间的相关性。结果在40例RA病人中,抗CCP抗体的阳性率为80.0%,在其它风湿病人中的阳性率为7.0%,抗CCP抗体对RA的敏感性和特异性分别为80.0%、96.0%,其敏感性高于RF,但差异无统计学意义(P〉0.05),特异性明显高于RF(P〈0.05)。联合应用抗CCP抗体与RF进行诊断,二者均阳性时敏感性为65.0%,特异性为97.3%。抗CCP抗体与RF实验结果之间无相关性。结论抗CCP抗体对RA具有较好的敏感性和很高的特异性,可与RF相互补充,联合检测可提高对RA早期诊断的准确性。  相似文献   

17.
Recent advances have highlighted a major genetic contribution to the pathogenesis of rheumatoid arthritis (RA).The aim of this study was to investigate whether polymorphisms of TNF‐α (rs1800630, rs1800629) and TNFR1 (rs767455) were associated with susceptibility to and clinical outcome of RA in Chinese Han population. The target gene polymorphisms were genotyped in 256 patients with RA and 331 healthy controls using a high resolution melting (HRM) method. ESR, CRP, RF anti‐CCP and anti‐GPI level were also assayed and compared in genotypes of each polymorphism. Significant difference was observed in the genotype distributions and allele frequencies of TNF‐α rs1800629 (= 0.001, < 0.001, respectively) between patients with RA and controls. There is no evidence to suggest an association between genotypes of the 3 SNPs according to age, gender, disease duration, DAS28 and serum level of autoantibodies. This study identifies a potentially important role for TNF‐α rs1800629 polymorphisms in the susceptibility to RA.However, further studies in larger cohorts are required.  相似文献   

18.
目的 比较抗环瓜氨酸肽抗体(抗CCP抗体)和抗角蛋白抗体(AKA)在类风湿关节炎诊断中作用,探讨RA的早期诊断方法.方法 对已确诊的85例RA患者、74例非RA的自身免疫病患者同时测定抗CCP抗体(ELISA法)、AKA(间接免疫荧光检测).结果 抗CCP抗体对诊断RA的灵敏度和特异性分别为75.3%和93.2%;AKA对RA诊断的灵敏度和特异性分别为89.4%和85.14%.抗CCP抗体的灵敏度与AKA灵敏度差异无统计学意义(P>0.05),特异性差异有统计学意义(P<0.05);抗CCP抗体或AKA与二者联合检测的灵敏度差异有统计学意义(P<0.05),特异性差异有统计学意义(P<0.05).阳性预测值抗CCP抗体较高,阴性预测值以二者联合检测较好,Youden index二者联合检测比单独检测抗CCP抗体或AKA高.抗CCP抗体和AKA在检测RA组中抗CCP抗体和AKA同时阳性检出58例;抗CCP抗体或AKA阳性共检出85例.抗CCP抗体或AKA阳性率(96.5%)比二者同时阳性率(68.2%)大大提高.结论 抗CCP抗体、AKA对RA具有较好的灵敏度和高度的特异性,联合检测抗CCP抗体和AKA可作为早期RA患者及RF阴性RA患者的早期诊断指标.  相似文献   

19.
Objective and design

Type 2 diabetes is a pandemic disease characterized by hyperglycemia, ineffective insulin use, and insulin resistance and affecting 1 in 11 people worldwide. Inflammation-related insulin resistance is thought to play an important role in the etiology of the disease. TLR4 is the central receptor of the natural immune system and has an important role as a trigger of the inflammatory response. The IRAK1 and TIRAP are members of the TLR4 pathway and involved in the TLR4-mediated inflammatory response. Genetic variants in the TLR4 gene or in the IRAK1 and TIRAP genes may have an important role in the development of insulin resistance and type 2 diabetes by disrupting the inflammatory response. In this direction, we aimed to investigate the relationship among TLR4 and IRAK1, TIRAP gene variants, and type 2 diabetes and insulin resistance, and investigate how these variants affect inflammatory factors (TNF-α, IL-6, MCP-1, and IL-1β).

Subjects and methods

In our study, a total of seven variations on the genes of TLR4 (rs4986790, rs4986791), IRAK1 (rs1059703, rs3027898, rs7061789), and TIRAP (rs8177374, rs8177400) were genotyped by the MassARRAY® Iplex GOLD SNP genotyping in 100 type 2 diabetic patients and 100 non-diabetic individual. The TLR4 rs4986790 and rs4986791 variation was confirmed by PCR–RFLP method also. The serum IL1-β, IL6, MCP-1, and TNF-α levels were measured using enzyme-linked immunosorbent assay kits.

Results and conclusion

As a result of our study, no correlation was found among TLR4, IRAK1, and TIRAP gene variants and the risk of type 2 diabetes and insulin resistance. However, TNF-α, IL-6, MCP-1, and IL-1β levels were also associated with diabetes and insulin resistance (p?>?0.05). Although the gene variants were not significant in type 2 diabetes and insulin resistance groups, IRAK1, TLR4, and TIRAP gene variants were found to be associated with TNF-α, IL-6, MCP-1, and IL-1β levels.

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