Antinuclear antibodies in systemic lupus erythematosus

Autoantibodies to the three extractable nuclear antigens (ENA), Anti-SSA (Ro), Anti-Sm, Anti-RNP and antinuclear antibodies were determined in 150 patients with SLE. Seventy patients (46.7%) had Anti-SSA (Ro), 40 (26.7%) Anti-Sm and 25 (16.7%) Anti-RNP antibodies. Ninety four percent patients had a positive Fluorescent anti-nuclear antibody (FANA) test. The commonest FANA pattern is the speckled pattern. Subclinical keratoconjunctivitis sicca (KCS) was present in 60% patients. No correlation could be demonstrated between the presence of ENA autoantibodies and the clinical features of patients.     

湖南汉族群体HLA—DR2等位基因多态性与系统性红斑狼疮的相？…

以ＨＬＡ－ＤＲＢ基因类扩增为参照,通过ＨＬＡ－ＤＲ２组特异性扩增确定ＨＬＡＤＲ２携带者,ＰＣＲ／ＳＳＰ作亚型分型,并用银染ＰＣＲ／ＳＳＣＰ分析ＨＬＡ－ＤＲ２等位基因第二外显子单链构象,调查湖南地区汉族群体ＳＬＥ（系统性红斑狼疮）患者５８例和健康对照５９例ＨＬＡ－ＤＲ２等位基因分布。结果示,ＨＬＡ－ＤＲ２与ＳＬＥ相关,ＨＬＤ－ＤＲＢ１＊１５０１为疾病相关等位基因,该群体中检出的另外两种亚型ＤＲＢ１＊     

人类白细胞抗原DRB1位点基因多态性与内蒙古蒙汉民族人群哮喘关系的研究

目的探讨内蒙古蒙、汉民族人群中人类白细胞抗原HLA—DRB1基因多态性与支气管哮喘的关系。方法选用序列特异性引物聚合酶链反应（PCR—SSP）方法对内蒙古汉族支气管哮喘患者45例、蒙古族支气管哮喘患者45例进行HLA—DRB1等位基因的检测,并分别与46例健康汉族和45例健康蒙古族进行比较,计算各个位点的基因分布频率,相对危险度。对结果进行X^2检验,筛选有意义基因。结果蒙、汉族支气管哮喘组HLA—DR9基因频率分别为13．33％和16．67％,较相应对照组（2．22％和5．43％）增高（P〈0．05）,比值比（OR）分别为7．82和4．10。蒙古族支气管哮喘患者HLA—DR11基因频率10．00％,较蒙古族正常对照组（1．11％）升高（P〈0．05）,OR值为11．00。汉族支气管哮喘患者DR7基因频率较汉族正常对照组降低（P〈0．05）,OR值为0.08。汉族支气管哮喘患者HLA—DR7基因频率1．11％,低于蒙古族支气管哮喘患者（10．87％）,P〈0,05。结论HLA—DR9基因与蒙、汉族支气管哮喘的发病相关,是内蒙古地区蒙、汉族支气管哮喘患者共同的易感基因。而DR11基因位点是蒙古族支气管哮喘患者特有的易感基因,DR7基因位点是汉族支气管哮喘患者的抗性基因。     

Sequential bilateral central retinal artery occlusion as the primary manifestation of systemic lupus erythematosus

Bilateral central retinal artery occlusion (CRAO) has been rarely reported as the primary manifestation in patients with systemic lupus erythematosus (SLE). The severe retinal vaso-occlusive diseases usually cause devastating and permanent damage to visual function in spite of vigorous treatment. A 42-year-old Chinese woman presented with abrupt bilateral vision loss. The diagnosis of bilateral CRAO was suggested by the ocular presentation and fluorescein angiography. Laboratory studies showed positive results of antinuclear antibody, anti-Ro/SSA anti-La/SSB; decreased levels of C3, C4 complement and normal levels of antiphospholipides antibodies (APAs). Her visual acuity deteriorated despite systemic steroid and immunosuppressant treatment. Severe vaso-occlusive retinopathy may be an earlier manifestation of SLE without elevated level of APAs.

     

HLA-DRB1*1501和TNF-α308位点基因多态性预测再生障碍性贫血免疫抑制疗法的疗效

目的 研究再生障碍性贫血(AA)患者HLA-DRB1*1501表型及肿瘤坏死因子-a（TNF-a） 308位点基因多态性对其免疫抑制疗法疗效的预测价值。方法 40例初治AA患者,给于环孢菌素（CsA）为主的免疫抑制治疗,应用PCR SSP方法分析HLA-DRB1*1501表型,用PCR-RFLP技术检测TNF-a308位点基因型,并随访评价上述各指标与患者预后的关系。结果 HLA-DRB1*1501表达阳性患者与阴性患者对免疫抑制治疗有效率分别为85.7%和46.2%（P=0.024）;TNF a308A（TNF2）阳性患者与阴性患者对免疫抑制治疗有效率分别是78.6%和48.1%（P=0.039）;HLA-DRB1*1501阳性TNF2阳性、HLA-DRB1*1501阳性TNF2阴性、HLA-DRB1*1501阴性TNF2阳性、HLA-DRB1*1501阴性TNF2阴性四种预测概率值分别为0.963、0.785、0.754、0.354。结论 HLA-DRB1*1501和TNF a联合检测有可能成为AA患者免疫抑制治疗疗效的预测方法。     

HLA-DRB1 genes in 5 rheumatic disease multi-case families

OBJECTIVE: To detect HLA-DRB1 (DR1-10) alleles in 5 families with multi-case rheumatic diseases, and to study the possible influence of DRB1 genes in the pathogenesis of rheumatic diseases. METHODS: Sequence-Specific Primer PCR (PCR-SSP) method was used to examine HLA-DRB1 alleles. Totally 36 members of 5 families and 166 healthy people were involved in this study. The results were assessed by Chi-square test. RESULTS: The HLA-DRB1 allele frequency in the patients and their relatives was similar. No significant difference was found. But DR4 allele frequency in the patients (90.9%) and their relatives (68%) was much higher than that in normal controls (16.8%) and the difference was statistically significant (P < 0.0001). In family 4, two RA patients have different DRB1 alleles, while in family 5, two patients have the same DRB1 alleles, one developed SLE and the other developed RA. CONCLUSIONS: DR4 is closely related to rheumatoid arthritis. The nelatives of RA patients may be at greater risk to develop RA than individuals without family history. Some patients had the same DRB1 allele but developed different rheumatic diseases. This suggested that there might be some common pathways in genetic predisposing of rheumatic diseases. On the other hand, only a few patients with the same DRB1 allele developed rheumatic diseases during their life, so other factors besides DRB1 gene might also be involved in the pathogenesis of rheumatic diseases.     

SLE病人及其子代与SLE相关基因及抗体关系研究

目的探讨缓解期系统性红斑狼疮(SLE)病人所生子女罹患SLE的危险性。方法应用实时定量PCR技术检测14例SLE病人、病人子女及18例对照者HLA-DRB1*1501、DRB1*0301、DQA1*0102、DQB1*0602的频率,免疫印迹法检测入组者ENA抗体谱。结果 SLE病人组DQA1*0102频率显著高于对照组(RR=2.02,P<0.05),而两组间DRB1*1501、DRB1*0301、DQB1*0602频率比较差异无显著意义(P>0.05);SLE病人组DQB1*0602频率显著高于其子女组(RR=2.06,P<0.05),而两组间DRB1*1501、DRB1*0301、DQA1*0102频率比较差异无显著性(P>0.05);SLE子女组DQA1*0102频率显著高于对照组(RR=2.14,P<0.05);而两组间DRB1*1501、DRB1*0301、DQB1*0602频率比较差异无显著性(P>0.05)。SLE病人组自身抗体SSA及dsDNA出现频率明显高于对照组(P=0.019、0.015),两组间SSB及Ro-52差异无显著性(P>0.05);SLE病人子女组所测自身抗体检出率为0。结论 HLA-DQA1*0102为SLE的易感等位基因,DQA1*0102有一定的遗传倾向。经过系统治疗达到缓解期的SLE病人生育的子女罹患SLE的危险性无明显增加趋势。     

马疫锥虫间接免疫荧光试验测定抗双链DNA抗体和抗核抗体

用马疫锥虫间接免疫荧光试验测305例血清抗双链DNA(dsDNA)抗体和抗核抗体(ANA),其中包括50例系统性红斑性狼疮(SLE),43例其它结缔组织病(CTD),76例银屑病,82例其它疾病和52例正常人对照。结果表明全部23例活动期SLE患者显示抗dsDNA和ANA阳性反应,27例非活动期SLE患者抗dsDNA仅1例阳性而ANA24例(88.9％)阳性。其它各组除1例播散性盘状狼疮和1例肺癌外,抗dsDNA均为阴性反应。     

抗Ro52抗体阳性的系统性红斑狼疮患者心血管损害的临床特点

目的 分析抗Ro52抗体阳性的系统性红斑狼疮（systemic lupus erythematosus,SLE）患者心血管损害的特点,旨在探讨抗Ro52抗体对SLE心血管系统的影响作用。方法 收集2015年1月至2020年10月于中山大学附属第五医院住院的SLE患者共517例患者的临床资料,根据抗Ro52抗体阳性与否,分为抗Ro52抗体阳性组和抗Ro52抗体阴性组,回顾比较两组出现各种类型心血管损害的特点及超声心动图参数。结果 纳入517例SLE患者,361例患者合并心血管疾病（cardiovascular disease,CVD）,占69.8%。抗Ro52抗体阳性组的SLE患者出现心血管系统受累的患病率较阴性组稍高（74.1% vs,68.6%）,但差异无统计学意义（P>0.05）。两组均以瓣膜损害最为常见,心肌疾病次之,其余表现为心包积液、QTc间期延长、ST-T改变、心律失常、肺动脉高压、冠心病、急性心力衰竭等。抗Ro52抗体阳性的SLE患者左心房内径、左心室内径、左心室质量小于抗Ro52抗体阴性组,阳性组更容易出现严重的心血管系统损害（均P<0.05）。结论 心血管系统是SLE最常累及的系统之一,主要表现为瓣膜损害、心肌病变、心包积液,严重者可出现急性心肌梗死、急性脑梗死、中重度肺动脉高压等心血管疾病。抗Ro52抗体可能对SLE心血管系统损害有一定的影响作用。     

汕头地区人群HLA—DRB1等位基因与类风湿关节炎的相关性研究

目的：探讨汕头地区人群HLA－DRB1等位基因分布,及其对风湿性关节（RA）易感性及病情和预后估计的意义。方法：用序列特异性引物基因扩增法（PCR－SSP）对117例RA、38例SLE和100例正常人进行DRB1等位 基因鉴定;用序列特异性寡核苷酸探针（SSOP）斑点杂交进行DRB1^*04亚型鉴定。结果：RA患者DRB1^*04频率显著高于正常组（49.6％对18.0％）,且以DRB1^*0405为主要亚型（62.1％对27.8％）。DRB1^*04阳性组RA较阴组病程长、发病年龄轻（P＜0.05）,两组间各种自身抗体阳性率无显著性差异（P＞0.05）。结论：汕头地区人群RA和DRB1^*04显著相关,其主要亚型为DRB1^*0405。DRB1等位基因型别可作为估计RA病情及预后的指标。     

HLA-DRB1及DQB1等位基因多态性与宁夏回族人群食管癌的关联性研究

目的探讨宁夏回族人群食管癌与HLA-DRB1及DQB1等位基因多态性的关联性。方法采用聚合酶链反应-序列特异性引物（PCR-SSP）技术,检测肿瘤组40例、对照组143例的HLA-DRB1等位基因17个,HLA-DQB1等位基因19个。结果 （1）肿瘤组HLA-DR14.1 DQB1＊0301基因频率明显高于对照组,差异有统计学意义（P=0.00）;（2）对照组HLA-DR3、DQB1＊0501基因频率明显高于肿瘤组,差异有统计学意义（P〈0.01）;（3）对肿瘤患者HLA-DRB1、DQB1等位基因进行遗传平衡分析,差异无统计学意义,说明各等位基因为随机组合,无特殊意义;（4）对部分模糊的条带及阳性实验结果进行基因测序比对分析验证,基本完全符合。结论 （1）HLA-DR14.1,HLA-DQB1＊0301两种等位基因增加宁夏回族人群食管癌发生的易感性;（2）HLA-DR3,HLA-DQB1＊0501是宁夏回族人群食管癌发生相关联的抗性等位基因。     

Ro52抗体与其他肌炎抗体共阳性的相关性研究

目的:观察Ro52抗体与其他肌炎抗体共阳性的相关规律。方法:回顾性分析2010—2016年在北京大学第一医院应用线性免疫印迹法检测的1 509例临床疑诊为炎症性肌病患者血清中11种肌炎特异性或相关性抗体(Jo-1、PL-7、PL-12、EJ、OJ、Mi-2、SRP、Ku、PM-Scl 75、PM-Scl 100、Ro52)的检查结果,分析Ro52抗体与其他肌炎抗体共阳性的相关规律,用SPSS 17.0以及Graph Pad PRISM软件进行统计学分析及作图。结果:Ro52抗体阳性率达18.3%(276/1 509例),为最常检测出的肌炎抗体。Ro52抗体阳性的患者中有51.8%合并其他肌炎抗体,合并SRP抗体的比例最高(18.8%),其次为Jo-1抗体(13.0%)。除OJ抗体外,其他肌炎抗体阳性患者最常合并的另一种抗体均为Ro52,其共阳性率在PM-Scl 75阳性组最低(30.4%)、在EJ抗体阳性组最高(80.0%)。抗合成酶抗体阳性的患者有57.3%合并Ro52抗体,显著高于非抗合成酶抗体阳性的患者(35.2%, χ²=18.916,P<0.001)。Jo-1抗体、EJ抗体以及SRP抗体阳性的患者中,Ro52抗体共阳性组的抗体谱带强度均显著高于相应的Ro52抗体阴性组(P<0.05)。SRP抗体谱带强度与Ro52抗体谱带强度呈显著正相关(r=0.44,P=0.001)。结论:Ro52抗体是其他肌炎抗体阳性患者常合并出现的一种抗体,尤其是抗合成酶抗体阳性的患者,是否合并出现Ro52抗体可能与该肌炎抗体的滴度相关。     

抗Ro(SSA)抗体在SLE中的临床意义

用CIE法检测了各种结缔组织病、非结缔组织病及正常人血清中的抗Ro抗体,并分析了其阳性率,该抗体对SS及SLE有较高特异性。本文着重讨论了抗Ro抗体在SLE中的临床意义,抗Ro抗体阳性SLE组中,广泛的LE皮损、皮肤血管炎、高球蛋白血症、类风湿因子阳性及低补体血症的发生率高。该抗体对SLE预后的意义有待于进一步探讨。     

HLA-DR和 HLA-DQ等位基因与口腔扁平苔藓的相关性

目的研究上海及江浙地区汉族人群人类白细胞抗原(HLA)-DRB1、HLA-DQB1等位基因与口腔扁平苔藓(OLP)发病的关系。方法采用聚合酶链式反应-序列特异性引物(PCR-SSP)法,检测上海及江浙地区44例OLP患者和150例正常对照者的HLA-DRB1、HLA-DQB1等位基因表现频率,所得数据在OLP与正常对照之间以及不同类型OLP患者之间进行比较分析。结果与正常对照组相比,OLP组HLA-DRB1*09和HLA-DRB1*07基因表现频率均明显增高,分别为56.8%vs31.3%(P<0.01)和27.3%vs13.3%(P<0.05);而HLA-DQB1*06基因表现频率则显著降低(18.8%vs42.5%)(P<0.01)。OLP组内比较显示,HLA-DRB1*04表达频率在具有糜烂表现的OLP患者中显著升高,与白纹组相比具有显著性差异(P<0.05)。结论HLA-DRB1*09、DRB1*07等位基因与上海及江浙地区部分人群的OLP易感性相关;HLA-DQB1*06等位基因可能与OLP的抵抗性相关联;HLA-DRB1*04可能与糜烂型OLP的发生有关。     

HLA-DRB genotype and specific IgE responses in patients with allergies to penicillins

Background Because of the pivotal role of the human leukocyte antigen （HLA） class II molecules in regulating the immune response and their extensive polymorphism, it is not surprising that particular HLA class II alleles have been implicated in susceptibility to allergic diseases and in restriction of the IgE responses to a variety of allergens. We investigated the relationship between HLA-DRB genotype and allergies to various penicillins and explored HLA-DRB restriction of IgE responses to these derivatives of penicillin. Methods Radioallergosorbent test was used to examine 8 kinds of specific IgE antibodies （4 major and 4 minor antigenic determinants） in the sera of 248 patients with an allergy to penicillins and 101 healthy subjects without any allergic reaction. Some （113 patients and 87 healthy control subjects） were chosen from all subjects to type for HLA-DRB alleles by sequence specific primer-polymerase chain reaction. Results Compared with control subjects, a sign/ficantly increased frequency of DR9 was present in 77 patients with allergic reactions, with immediate hypersensitive reaction and with urticaria （P = 0.011; P = 0.019; P = 0.005 respectively）. Conversely, a significantly decreased frequency of DR14.1 was found in 80 patients with positive IgE antibodies, with immediate reaction and with urticaria compared with control group （P = 0.024; P = 0.038; P = 0.038）. A possible excess of HLA-DR17 was found in subjects who were responsive to benzylpenicilloyl compared with those were not （X^2 = 5.134, P = 0.023）, and of HLA-DR4 was found in subjects responsive to phenoxomethylpenicillanyl （PVA, X^2 = 4.057, P = 0.044）. Conclusion I-ILA-DRB gene may be involved in allergy to pcnicillins through modulating spvcific serum IgE to penicillins.     

HLA-DRB1 ALLELES GENOTYPING IN PATIENTS WITH RHEUMATOID ARTHRITIS IN CHINESE

ＨＬＡ－ＤＲＢ１ＡＬＬＥＬＥＳＧＥＮＯＴＹＰＩＮＧＩＮＰＡＴＩＥＮＴＳＷＩＴＨＲＨＥＵＭＡＴＯＩＤＡＲＴＨＲＩＴＩＳＩＮＣＨＩＮＥＳＥＺｈａｏＹａｎ（赵岩）；ＤｏｎｇＹｉ（董怡）；ＺｈｕＸｉｌｉｎ（朱席林）ａｎｄＱｉｕＣｈａｎｇｃｈｕｎ（邱长春）（Ｎ...     

Possible Association of HLA—DRB1 Gene with the Autoantibody against Myocardial Mitochondria ADP／ATP Carrier in Dilated Cardiomyopathy

Dilated cardiomyopathy( DCM) is a heartdis-ease of unknown etiology.It's clinical feature isthat the ventricle isdilated and the systolic ventric-ular function is impaired.In recent years,manystudies have indicated that the etiology of DCM isassociated with genetic factors,virus infection andautoimmunity.Many familial DCM have beenfound,in addition to the well- recognized familialoccurrence of DCM[1] ,A genetic component hasbeen recently identified in up to2 0 % of presumedsporadic cardio…     

人类白细胞抗原DRB1及DPB1等位基因多态性与南方部分地区汉族人多发性硬化的相关性研究

目的探讨人类白细胞抗原（HLA）-DRB1、HLA-DPB1基因多态性与我国南方汉族人群多发性硬化（MS）的相关性。方法采用基于测序的分型方法（SBT）对26例南方汉人普通型MS（C-MS）、13例视神经-脊髓型MS（OS-MS）患者及50名正常对照进行HLA-DRB1、HLA-DPB1等位基因分型,并比较各型MS之间及其与对照组之间等位基因型频率的差异。结果共检测到27种HLA-DRBI和13种HLA-DPB1等位基因片段,其中DRB1^＊0406和DRB1^＊1302的基因型频率在OS-MS患者中均高于正常人群（P值分别为0．014和0、007,OR值为2．09和2．84）;DRB1^＊120201频率在C-MS患者中高于正常人群（P=0．021,OR=3．89）和OS-MS患者（P=0．07,OR=6．87）;HLA-DPB1^＊2101频率在OS-MS患者组高于正常人群（P=0．04）。然而,以上差异经校正后均无统计学意义（均Pc〉0．1）。HLA-DRB1^＊150l和DPB1^＊0501的基因型频率在本组C-MS、OS-MS患者之间及其与正常对照之间差异均无统计学意义（均P〉0．1）。结论我国南方汉族人群MS与HLA-DRB1和-DPB1基因多态的相关性与西方、日本及我国北方人群者不同。南方汉人MS可能与HLA-DRB1^＊0406、DRB1^＊1302、DRB1^＊120201及HLA-DPB1^＊2101有关,而与HLA-DRB1^＊1501和DPB1^＊0501无关。     

自身抗体联合检测诊断系统性红斑狼疮的价值

目的通过检测系统性红斑狼疮（SLE）患者的抗核抗体（ANA）及抗核抗体谱（ANAs）,评价自身抗体对SLE的诊断价值及临床意义。方法 SLE组、疾病对照组的所有患者血清标本均采用间接免疫荧光法检测ANA和免疫印迹法检测ANAs。结果 SLE组ANA、抗nRNP/Sm、Sm、SSA、Ro-52、CENP B、dsDNA、AnuA、Histone、rRNP检测阳性率均高于疾病对照组（P〈0.05）,抗CENP B检测阳性率低于疾病对照组（P〈0.05）。9种自身抗体的相关参数,ANA的敏感性最高,但特异性低,阳性似然比低。抗Sm、dsDNA、AnuA、rRNP的敏感性较低,但特异性高,阳性似然比大于8。阳性似然比大于8的4种自身抗体的互补关系,抗Sm阴性时抗dsDNA、AnuA、rRNP的阳性率为39.38%、33.75%、13.13%。但2项联合（AnuA＋dsDNA）、3项联合（AnuA＋dsDNA＋Sm）、4项联合（AnuA＋dsDNA＋Sm＋rRNP）检测时敏感性、阳性似然比和诊断准确性均高于单项ds2DNA（P〈0.05）,阴性似然比均低于单项dsDNA（P〈0.05）,而特异性无明显变化（P〉0.05）。结论抗dsD2NA、AnuA、抗Sm、抗rRNP是SLE诊断的标记性抗体,特异性高,但敏感性低,若联合检测可以避免因单项检测出现的漏诊,提高对SLE诊断的敏感性。     

人白细胞抗原—DRB1等位基因与中国西部泡状棘球蚴病易感性？…

目的 了解人白细胞抗原（ＨＬＡ）＝ＤＲＢ１等位基因与泡球蚴病相关性,阐明泡球蚴病的免疫学发病机制,探寻 球蚴病的易感基因或抗病基因提供线索。方法 应用ＰＣＲ／ＳＳＲ技术,对中国西部甘肃省漳县、岷县泡球蚴病高流行区４个 的３５例口才１０４例正常人九进行了ＨＬＡ－ＤＲＢ１基因型分析。结果 且ＨＬＡ－ＤＲＢ１＊０４０Ｘ基因频率为２６％（１８／７０）,正常对照组籽１０％（２０／２０８）（ＲＲ＝４．４５,Ｘ