Association of IL‐1 beta gene polymorphism with susceptibility to systemic lupus erythematosus

Background: The IL‐1β exon5 (+3954) has been related to the pathogenesis of lupus, but the role of IL‐1 polymorphisms in the aetiology of systemic lupus erythematosus (SLE) is unknown. Method: We compare the IL‐1 beta +3954 (exon5) gene polymorphism among 52 SLE patients and healthy controls in north‐eastern Iran. Polymorphism of the gene for IL‐1 beta +3954 was typed after the genomic DNA was amplified by polymerase chain reaction‐sequence‐specific‐primers technique. Results: Comparing the results show no significant differences in the frequency of IL‐1 beta exon5 allels between patients with SLE and controls. Additionally, we did not detect any association of IL‐1 beta exon5 (+3954) genotype with clinical and laboratory profiles in SLE patients. Conclusion: The polymorphism of the IL‐1 beta exon5 allele is not associated with genetic susceptibility to SLE in north‐eastern of Iran.     

白介素-10基因多态性与狼疮性肾炎的关系

目的 :探讨白介素 10 (IL 10 )基因多态性与狼疮性肾炎 (LN)的发病和临床病理损害的联系及其在LN分子诊断中的意义。　 方法 :提取 10 0例健康志愿者及 2 4 6例LN患者全血DNA ,限制性片断长度多态性法检测IL 10基因 5 92位点A/C单核苷酸多态性在正常人群和LN患者总体及不同病理亚型组的分布 ,比较不同基因型组的临床表现、病理损害的差异 ,并研究其对血清IL 10水平的影响。　 结果 :IL 10基因 5 92A/C多态性在正常人群和LN患者的分布无显著差别 ,IL 10高表达基因型AC&CC患者的疾病活动性指数、尿蛋白、尿沉渣红细胞和肾小球袢内血栓的发生率均显著高于IL 10低表达基因型AA患者 ;结合肾活检病理分型进行分析发现 ,IL 10高表达相关的基因型 (AC&CC)在Ⅳ型LN患者的分布显著高于Ⅱ型和Ⅴa型患者。LN患者各基因型组血清IL 10水平无统计学差异 ,但AA型 相似文献   

血管紧张素转化酶基因多态性与系统性红斑狼疮相关性研究

目的探讨位于人类17号染色体长臂2区3带(17q23)上的血管紧张素转化酶(ACE)基因多态性G261T与系统性红斑狼疮(SLE)的关系。方法采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)方法检测人类17q23上的ACE基因多态性G261T,运用家系为基础的相关性检验(FBAT)方法,对119个中国汉族SLE患者家系(其中核心家系95个,119例患者,316名家系其他成员)ACE多态性位点(rs4303)进行等位基因和基因型分析。结果在119例SLE患者中：G、T等位基凶频率分别是44．8%和55．2%：基因型GG、GT和TT的频率分别是13．9%,62．0%,24．1%。FBAT单位点分析显示G261T多态性与SLE显著相关：附加模型(Z=2．877．P=0．004),显性模型(Z=2．557,P=0．011)以及隐性模型(Z= 2．202,P=0．028)。传递不平衡检验(TDT)和同胞传递不平衡检验(STDT)显示其中ACE-261T等位基因由杂合子父母优势传递给患病子女或者与正常同胞相比更容易传递给患者(X~2=11．66,P=0．001)。结论ACE基因是中国汉族人群SLE的易感基因；其中ACE-261T等位基因与SLE发病相关。     

Infections in patients with systemic lupus erythematosus

Infection is a major contributor to morbidity and mortality in patients with systemic lupus erythematosus (SLE). In most clinical series, infection ranks first or second as the most common cause of death in SLE patients worldwide, including Hong Kong. In this article, the spectrum of infections and their protean manifestations in lupus patients will be reviewed with emphasis on clinical data from Hong Kong and other Asian countries. A high index of suspicion and dedicated work‐up to identify the causative pathogens is pivotal to the early diagnosis and effective management of infective complications in patients with SLE.     

Estimation of monocyte‐chemoattractantprotein‐1 (Mcp‐1) level in patients with lupus nephritis

Aim: To evaluate the use of non‐invasive estimation of CP‐1 in urine as a good indicator for lupus nephritis activity. Methods: The study was conducted on 30 patients with systemic lupus erythematosus (SLE) (group I): 15 of these patients were selected without renal involvement (group I [A]), and the other 15 were selected with evidence of renal involvement (group I [B]). Further 10 age‐ and sex‐matched healthy subjects were taken as a control group (group II). The SLE disease activity index (SLEDAI) was applied. Laboratory investigations done for the studied group of patients included: renal function tests (antinuclear antibody) titer, (anti‐double‐stranded DNA) titer, and monocyte chemotactic protein 1 (MCP‐1) level in serum and urine samples. Results: Serum MCP‐1 was significantly higher in SLE patients with nephritis than in the control group, while no significant difference was found between SLE patients without nephritis and the control group. Urinary MCP‐1 in patients with active lupus nephritis (LN) were significantly higher than both patients with inactive LN and control the group. Urinary MCP‐1 in SLE patients with nephritis was significantly higher than both group I (A) and group II. Urinary MCP‐1 correlated positively with proteinuria, and negatively with creatinine clearance and hemoglobin; thus, urinary MCP‐1 correlates with the severity of nephritis. Conclusion: Urinary and not serum MCP‐1 is a useful invasive technique for the assessment of renal disease activity in patients with LN.     

Measuring functional status in patients with systemic lupus erythematosus

With improvements in mortality in systemic lupus erythematosus (SLE), the functional status of these patients, assessed using health‐related quality‐of‐life (HRQoL) measures, is increasingly being recognized as an important outcome measure in clinical research. Domains of HRQoL of particular importance to SLE patients include fatigue, ability to work, good health, independence and social and family life. The SF‐36 currently appears to be the best available measure for assessment of HRQoL in SLE. It measures some of the domains of importance to SLE patients, has good psychometric properties, patient acceptability, construct validity and has been validated for use in many languages. Using HRQoL measures, it has been shown that SLE patients have poorer functional status than the general population, and that specific manifestations of SLE (e.g. fibromyalgia and renal failure) may influence HRQoL in these patients. Prospective and cross‐sectional studies have identified a variety of factors – some potentially modifiable – which influence HRQoL in SLE. Additional research is needed to identify strategies which can improve HRQoL in SLE patients.     

ACE基因多态性与老年人原发性高血压的关系

目的 探讨血管紧张素Ⅰ转换酶（ACE）基因多态性与老年人原发性高血压（EH）的相关性。方法 采用一步PCR3条引物法,对287例老年EH（高血压组）和301例正常老年人（对照组）进行ACE基因I／D多态性分型,并进行基因型及等位基因频率计数,组间采用χ^2检验进行统计学分析。结果 高血压组DD型基因频率及D等位基因频率分别为10．4％和30．5％,对照组分别为9．3％和31．2％,经χ^2检验,2组间无显著差别（P＞0．05）。结论 ACE基因多态性与老年人原发性高血压（EH）无关。一步PCR3条引物法更准确可靠,可减少DD型错判率。