大疱及疱疹性皮肤病

20062700中国北方汉族寻常型天疱疮与HLA-Ⅱ类基因单倍型的相关性研究/耿龙(中国医大附属第二医院皮肤科),翟宁,韩秀萍…∥中国免疫学杂志.-2006,22(5).-453~455应用序列特异性引物-聚合酶链反应(PCR-SSP)技术对27例中国东北汉族PV患者的HLA-DRB1、DQB1等位基因测定,进行单倍型分析,并与99例健康对照者进行比较。结果显示与对照组比较,寻常型天疱疮患者组中单倍型DRB1*140×-DQB1*0503、DRB1*140×-DQB1*0201、DRB1*120×-DQB1*0503和DRB1*140×-DRB1*0302的频率明显增高,经统计学检验差异有显著意义(P<0.05)。提示特异单…     

北方汉族寻常型银屑病与HLA-DRB1及DQB1等位基因相关性研究

目的:探讨HLA-DRB1及DQB1等位基因与北方汉族寻常型银屑病相关性。方法:利用序列特异性引物-聚合酶链反应(PCR-SSP)分型技术,对63例寻常型银屑病患者和102例健康人的HIA-DRB!及DQB1等位基因进行检测。结果:(1)HLA-DRB1*070x、DRB1*1001及DOB`*020x等位基因与北方汉族寻常型银屑病呈正相关(P分别为0.001,0.005,0.009);HLA-DRB1*120x等位基因与北方汉族寻常型银屑病呈负相关(P=0.007)。(2)HLA-DRB1*070x及DQB1*020x等位基因仅与家族史阳性的早发型(Ⅰ型)银屑病发病相关(P<0.001)。(3)HLA-DRBq*1001等位基因频率在Ⅰ型及无家族史的晚发型(Ⅱ型)银屑病均显著性增高(P<0.05)。结论:(1)HLA-DRB1*070x、DRB1*1001及DQB1*020x等位基因可能是北方汉族寻常型银屑病的易感基因或与易感基因相连锁;HLA-DRB1*120x等位基因可能是阻止北方汉族人发生银屑病的保护基因。(2)Ⅰ型及Ⅱ型银屑病的遗传背景存在差异。     

大疱性类天疱疮与HLA-DRB1等位基因的相关性研究

目的:探讨山东汉族大疱性类天疱疮(BP)与HLA-DRB1等位基因的相关性.方法:运用聚合酶链反应-序列特异性引物寡核苷酸探针杂交(PCR-SSOP)方法,对山东地区汉族43例BP患者和125名健康对照组进行了HLA-DRB1等位基因分型.结果:BP患者组HLA-DRB1*10和DRB1*11等位基因的出现频率均高于对照组(P值分别为0.040和0.018),但经校正后P值均无显著性差异;HLA-DRB1*11与BP患者黏膜损害相关(P=0.003,Pc<0.05,RR=12.3).结论:大疱性类天疱疮的遗传易感基因可能与HLA-DRB1等位基因无相关性.     

梅毒患者与HLA-DRB1等位基因相关性研究

目的:检测山东汉族梅毒患者与HLA-DRB1等位基因的相关性.方法: 应用聚合酶链反应-序列特异性引物技术(PCR-SSP)对196例山东汉族梅毒患者与500例山东汉族正常对照的HLA-DRB1等位基因表现频率进行检测.结果: 患者组DRB1*14等位基因的出现频率高于对照组(P<0.05);DRB1*16等位基因的出现频率与对照组无显著差异(P>0.05).结论: HLA-DRB1*14等位基因可能是梅毒的易感基因.     

新乡地区汉族人群寻常型银屑病与HLA-DRB1*07等位基因的关联研究

目的:确定新乡地区汉族人群寻常型银屑病与HLA-DRB1*07等位基因的相关性。方法:采用聚合酶链反应-序列特异性引物(PCR-SSP)法检测新乡地区200例汉族寻常型银屑病患者和200名健康对照者的HLA-DRB1*07等位基因频率。结果:病例组HLA-DRB1*07等位基因频率(57.5%)高于对照组(27.5%);发病年龄≤40岁患者等位基因频率(60.47%)高于40岁患者(39.29%)。结论:HLA-DRB1*07等位基因可能与新乡地区汉族人银屑病相关,尤其是早发型银屑病。     

中国北方汉族泛发型白癜风与HLA-DRB1等位基因的相关

目的:探讨HLA-DRB1等位基因与中国北方汉族泛发型白癜风的相关性。方法:采用聚合酶链反应-序列特异引物(PCR-SSP)技术检测34例北方汉族泛发型白癜风患者的HLA-DRB1等位基因。结果:与262例正常对照组相比较,泛发型白癜风患者HLA-DRB1*0701/02、DRB1*1201/02基因频率显著增高(Pc<0.0001),HLA-DRB1*0901、DRB1*11基因频率降低(但经校正后Pc>0.05);有明确家族史的患者HLA-DRB1*1201/02基因频率显著增高(Pc<0.0001);无家族史者HLA-DRB1*0701/02基因频率显著升高(Pc<0.0001),DRB1*1201/02基因频率显著增高(经校正后Pc>0.05),DRB1*0901基因频率降低(经校正后Pc>0.05)。结论:中国北方汉族人群,HLA-DRB1*0701/02、DRB1*1201/02等位基因可能与泛发型白癜风的发病有关,而DRB1*0901、DRB1*11等位基因可能是防止其发病的“保护因子”,为进一步揭示泛发型白癜风的易感基因及免疫遗传发病机制提供线索。     

HLA-DRB1基因与慢性荨麻疹的相关性

目的探讨慢性荨麻疹与HLA-DRB1等位基因的相关性。方法采用聚合酶链反应-序列特异性引物方法,检测慢性荨麻疹(CU)患者组144例(汉族64例,壮族80例)和正常对照组199例(汉族95例,壮族104例)的HLA-DRB1等位基因频率,使用SPSS13.0统计软件分析。结果在检测的16个位点中,DRB1*12和*1401等位基因频率在汉族患者组与汉族对照组间差异有统计学意义(Pc<0.001,RR=6.715;Pc<0.001,RR=28.776);DRB1*1401等位基因频率在壮族患者组与壮族对照组间差异有统计学意义(Pc=0.002,RR=4.526)。DRB1*12等位基因频率在汉族患者组与壮族患者组间比较,差异有统计学意义(Pc<0.001)。结论 DRB1*12和*1401等位基因可能与汉族CU有相关性;DRB1*1401等位基因可能与壮族CU有相关性;DRB1基因多态性在汉、壮族间分布有差异。     

类天疱疮与HLA-DRB1基因的相关性研究

为探讨HLA-DRE1基因与类天疱疮（BP）的相关性，采用聚合酶链反应序列特异性寡核苷酸探针PCR-SSOP方法对上海地区汉族56个BP患者和150名健康对照进行了HLA-DRB1基因分型。结果与健康对照组比较，BP患者HLA-DRBI*10（DRB1*1001）基因频率明显增高(Pc=0.022，RR=6.466)。结果提示HLA-DRB1*10(DRB1*1001)可能是我国上海地区汉族BP患者的易感基因。     

广西地区壮、汉族系统性红斑狼疮与HLA-DRB1等位基因相关性研究

目的：探讨广西地区壮、汉族系统性红斑狼疮(SLE)与HLA-DRB1等位基因的相关性。方法：用聚合酶链式反应一序列特异性引物(PCR-SSP)方法，分别对52例SLE壮族患者和70名壮族健康人，45例SLE汉族患者和60名汉族健康人的HLA-DRB1等位基因进行研究。结果：壮族SLE患者HLA-DRB1^*1401及DRB1^*16两个等位基因的频率低于正常对照组(RR=0．2813，χ^2=5．0024，P=0．0252及RR=0．3889，χ^2=3．9527，P=0．0466)，患者组和对照组均未检出HLA-DRB1^*08、DRB1^*11和DRB1^*13等位基因；汉族SLE患者HLA-DRB1^*15等位基因的频率高于正常对照组(RR=2．5333，χ^2=8．4006，P=0．00371，患者组未检出HLA-DRB1^*11、DRB1^*13等位基因，对照组亦未检出HLA-DRB1^*13等位基因。结论：提示HLA-DRB1^*1401及DRB1^*16等位基因可能是广西地区壮族人SLE的保护基因，未发现易感基因。提示HLA-DRB1^*15等位基因可能是广西地区汉族人SLE的易感基因。     

内蒙古汉族大疱性类天疱疮与HLA-DRB1和DQB1基因相关性分析

目的探讨内蒙古汉族大疱性类天疱疮与HLA-DRB1和DQB1基因相关性。方法采用聚合酶链反应-序列特异性引物技术(PCR-SSP),检测内蒙古汉族大疱性类天疱疮患者及内蒙古汉族正常人HLADRB1和DQB1基因分型,并统计分析。结果 HLA-DQB1*0301等位基因在大疱性类天疱疮患者组出现频率显著高于对照组(Pc0.05),HLA-DRB1*16和DQB1*0501等位基因在大疱性类天疱疮患者中出现频率显著低于对照组(Pc0.05)。结论 HLA-DQB1*0301可能是内蒙古汉族大疱性类天疱疮患者的遗传易感基因,而HLA-DRB1*16和DQB1*0501可能是内蒙古汉族大疱性类天疱疮患者的保护基因。     

HLA-DRB1等位基因与广东汉族人群甲真菌病的相关性研究

 目的:探讨人类白细胞抗原HLA DRB1等位基因与广东汉族人群甲真菌病的关联性。方法：纳入64例广东汉族甲真菌病患者(包括10例红色毛癣菌甲癣患者)以及64例健康对照者,采用聚合酶链式反应-序列特异性引物（PCR-SSP）技术,对研究对象全血基因DNA进行HLA DRB等位基因分型,比较等位基因频率,分析甲真菌病与HLA基因多态性的关系。结果：甲真菌病患者HLA-DRB1*10基因频率高于健康对照组（ X²=5.10,P<0.05）。红色毛癣菌感染的甲癣患者组HLA DRB1*12基因频率低于健康对照组（  X²=4.70,P<0.05）。结论：HLA-DRB1*10等位基因可能是广东汉族人群甲真菌病遗传易感基因,而HLA-DRB1*12等位基因可能是红色毛癣菌感染的甲真菌病患者的保护性基因,HLA基因多态性与甲真菌病的发生可能存在遗传免疫关联性。     

Human leukocyte antigen genotypes and antibody profiles associated with familial pemphigus in Japanese

Previous population-based, genetic studies have shown that human leukocyte antigen (HLA) class II loci such as HLA-DR4 (DRB1*04) and HLA-DR14 (DRB1*14) alleles are consistently associated with the occurrence of pemphigus vulgaris (PV) in Japanese as well as other ethnic populations. Among PV-related HLA-DRB1 alleles (*0406, *1401, *1405, *1406) in Japan, HLA DRB1*1405 and DRB1*0406 were found to be associated with both PV and pemphigus foliaceus (PF) phenotypes. We report four familial cases of pemphigus in two unrelated families, together with analysis of their HLA-DR and -DQ alleles, and their antibody profiles. One family comprised a woman with PF and her mother with PV: both patients shared a HLA haplotype of A31(19), B54(22), CW1 and DRB1*1405. Another family included two sisters with PF and PV, respectively: both of these patients shared a DRB1*1405-DQA1*0104-DQB1*0503 haplotype. Clinicopathological and serological monitoring revealed that the elder sister with PF presented with a PV phenotype later, and gained anti-desmoglein (Dsg)3 antibodies in addition to having a low titer of anti-Dsg1 antibodies. Conversely, the younger sister with PV developed PF with only anti-Dsg1 antibody detected. These results indicate that an HLA-DRB1*1405 (DQB1*0503) haplotype may confer susceptibility to both PV and PF, and that genetic susceptibility alone is not always responsible for the clinical phenotype and autoantibody profile.     

广西壮族系统性红斑狼疮与HLA-DRB1等位基因相关性研究

目的 探讨广西壮族系统性红斑狼疮(SLE)与HLA-DRB1基因的相关性。方法 用聚合酶链反应-序列特异性引物(PCR-SSP)方法,对52例SLE壮族患者和70例壮族健康人的HLA-DRB1基因进行研究。结果 SLE患者HLA-DRB1*1401及DRB1*16两个等位基因的频率低于正常对照组(RR=0.28,χ²=5.00,P=0.02及RR=0.39,χ²=3.95,P=0.05),患者组和对照组均未检出HLA-DRB1*08、DRB1*11和DRB1*13等位基因。结论 提示HLA-DRB1*1401及DRB1*16等位基因可能是广西壮族人SLE的保护基因,未发现易感基因。     

江苏、安徽籍汉族天疱疮患者HLA-DR基因的相关性研究

目的 探讨HLA-DR位点基因在天疱疮易感性中的作用。方法 用序列特异性引物-聚合酶链反应(PCR-SSP)方法,对61例寻常型天疱疮(PV)、37例红斑型天疱疮(PE)患者及57例正常对照者进行了HLA-DR等位基因的分型,并分析了DR基因在两组中的分布。结果 与正常对照组比较,PV患者组DR4、DRB1*14(*1401、*1404、*1405)基因频率明显增高,校正P值分别为<0.05及<0.01;PE患者组DR4、DRB1*14基因频率比对照组也显着增高,校正P值<0.05.对DR4阳性标本的组内基因亚型分型结果发现,PV组中DRB1*0403、DRB1*0406频率显着增高,校正P值<0.05;PE中DRB1*0406频率显着增高,校正P值<0.05.结论 本研究结果提示,DR4、DRB1*14基因可能是PV和PE的易感基因;HLA-DR基因在PV和PE的易感性方面所起的作用可能相似。     

HLA-DRB等位基因与苏皖籍汉族人群甲真菌病的相关性初步研究

【摘要】 目的 探讨HLA-DRB等位基因与苏皖籍汉族人群甲真菌病的相关性。 方法 采用聚合酶链反应-序列特异性引物方法对50例红色毛癣菌甲真菌病患者、14例须毛癣菌甲真菌病患者和52例健康对照进行HLA-DRB等位基因分型。应用SPSS for windows 13.0软件包,采用χ2检验比较甲真菌病患者组与对照组的HLA-DRB等位基因频率。 结果 红色毛癣菌甲真菌病患者HLA-DRB各等位基因频率与健康对照组相比差异均无统计学意义。须毛癣菌甲真菌病患者HLA-DRB1*14等位基因频率为17.86%,较健康对照组（3.85%）升高（P < 0.01,OR = 5.435,95% CI：1.353 ~ 21.835）,HLA-DRB1*15频率为0,较健康对照组（16.3%）下降（P < 0.05,OR = 0.837,95% CI：0.768 ~ 0.911）,差异均有统计学意义。 结论 HLA-DRB等位基因可能与苏皖汉族人群甲红色毛癣菌感染无明显相关;HLA-DRB1*14可能是甲须毛癣菌感染的易感基因,而HLA-DRB1*15可能是甲须毛癣菌感染的拮抗基因;不同菌种感染所致的甲真菌病的遗传背景可能存在异质性。     

Comparisons of clinical features of HLA‐DRB1*07 positive and negative vitiligo patients in Chinese Han population

Background Human leucocyte antigen (HLA)‐II alleles have been found to be associated with vitiligo in different populations, and several studies also suggested that HLA class II alleles/haplotypes were associated with a different type vitiligo. Of HLA class II alleles, DRB1*07 has consistently shown a positive association with vitiligo in Chinese Han population. Objective To further explore the relationship between DRB1*07 and vitiligo and to evaluate the DRB1*07 effect on the clinical features of vitiligo in Chinese Han population. Methods This study investigated DRB1*07 allele distribution in 1178 unrelated Chinese vitiligo patients and 1743 healthy controls using polymerase chain reaction/sequence specific primer method and observed clinical differences between DRB1*07 positive and DRB1*07 negative patients. Results The analysis of the 1178 cases and 1743 controls revealed a highly association between DRB1*07 allele and vitiligo [odds ratio (OR) = 1.97, P = 2.13 × 10^?17]. DRB1*07 positive patients had early disease onset (OR = 1.49, P = 0.001), higher frequency of family history (OR = 1.44, P = 0.006) compared with DRB1*07 negative patients. Conclusions The DRB1*07 showed significant association with vitiligo in the study population. This study confirmed that DRB1*07 positive patients had some obvious clinical differences from DRB1*07 negative patients in the Chinese Han population.     

蒙古族寻常性银屑病与HLA-Cw及DRB1位点相关性研究

【摘要】 目的 探讨蒙古族人群寻常性银屑病与HLA-Cw 及DRB1等位基因的相关性,为银屑病病因学研究提供依据。方法 序列特异性引物聚合酶链反应（PCR-SSP）对蒙古族寻常性银屑病患者81例及正常蒙古族100例进行HLA-Cw及DRB1位点的等位基因进行分型。结果 银屑病组HLA- Cw*06,DRB1*07等位基因频率显著高于健康对照组,HLA- Cw*04、DRB1*04等位基因频率显著低于健康对照组（Pc ＜ 0.05或0.01）。在发病年龄 ＜ 40岁银屑病及家族史阴性患者中HLA- Cw*06、DRB1*07等位基因频率显著高于健康对照组,而HLA- Cw*04、DRB1*04显著低于健康对照组（Pc ＜ 0.05）。在发病年龄≥ 40岁的银屑病及家族史阳性患者中只有HLA- Cw*06等位基因频率显著高于健康对照组（Pc ＜ 0.05）。结论 HLA- Cw*06、DRB1*07等位基因可能是内蒙古地区蒙古族人群寻常性银屑病的易感基因。HLA- Cw*04、DRB1*04等位基因可能是内蒙古地区蒙古族人群寻常性银屑病发病的保护因子。HLA- DRB1*07可能是发病年龄 ＜ 40岁的银屑病的易感基因,而HLA- Cw*04、DRB1*04则可能是发病年龄 ＜ 40岁银屑病的保护因子。     

Earlier occurrence of severe alopecia areata in HLA-DRB1*11-positive patients

BACKGROUND: Alopecia areata (AA) is a polygenic immune-mediated disorder affecting the hair follicle for which an association with human leukocyte antigen HLA-DRB1*11 has been described. Objective: Two parameters including age of onset and extent of the disease (patchy AA and AT/AU forms) were correlated with the presence or absence of HLA-DRB1*11 and its alleles in 88 severe AA patients. METHODS: Patients and healthy controls were typed for HLA-DR and -DQ by molecular method. RESULTS: Among AA patients, 37.5% (a proportion rising to 72% when taking patients who began their first patch before the age of 20 years) were positive for HLA-DRB1*11 compared to 21.2% healthy controls (p = 0.004, RR = 2.1). DRB1*11-positive status was associated with earlier development of the first AA patch, at the mean age of 16 years compared to 27 years (p = 0.003) in DRB1*11-negative patients. Among the DRB1*11 alleles, the presence of DRB1*1104 was associated with the earliest occurrence of AA. CONCLUSION: Our data indicate that the HLA system largely through DRB1*1104 allele influences AA onset rather than extension considering patchy AA and AT/AU.     

华东地区汉族斑秃与HLA-DRB1*03、*04、*11基因多态性的关联研究

目的 探讨中国华东地区汉族人群HLA-DRB1基因与斑秃发病、临床特点的关系。方法 采用序列特异性引物PCR（PCR-SSP）技术对已确诊为斑秃的158例和正常人对照组172例进行HLA-DRB1基因多态性分析。并比较斑秃患者不同发病年龄、发病次数、病程、家族史及严重程度与HLA-DRB1基因的关联性。结果 斑秃组HLA-DRB1*03、HLA-DRB1*11等位基因频率与对照组差异无统计学意义。斑秃组HLA-DRB1*04（OR = 1.99,Pc = 0.01）等位基因频率明显高于对照组。与正常人对照组比较,斑秃晚发组（发病年龄 > 16岁）（OR = 1.94,Pc = 0.02）、斑秃复发组（发病次数 > 1）和初发组（OR = 2.49、Pc = 0.02,OR = 1.83、Pc = 0.04）、病程 > 1年的患者（OR = 2.94,Pc = 0.01）、无家族史的患者（OR = 1.97,Pc = 0.02）、严重斑秃患者（OR = 3.53,Pc = 0.00）HLA-DRB1*04等位基因频率均显著升高。结论 中国华东地区汉族人群HLA-DRB1*04等位基因与斑秃发病、临床分型显著相关。     

Association between psoriasis vulgaris and MHC-DRB, -DQB genes as a contribution to disease diagnosis

We analyzed 100 control individuals and 60 patients with psoriasis vulgaris from the population of Campinas, Brazil. Typification of class II HLA alleles (HLA-DRB1-5 and -DQB1) was carried out through the DNA/PCR/SSP at medium and high resolution. DNA was extracted through a salting-out procedure: 13 DRB1 alleles, 3 DRB3 alleles, 1 DRB4 allele, 2 DRB5 alleles, and 5 DQB1 alleles were identified at a medium resolution using the PCR/SSP, and 45 DRB1 alleles were identified at a high resolution in analyzed patients. Results showed associations with psoriasis vulgaris: positive associations HLA-DRB3*02 (p < 0.05, chi(2) = 5.10, RR = 2.14); HLA-DRB1*0102 alleles (p < 0.05, RR = 5.44). Negative associations were found for HLA-DRB4*01 (chi(2) = 3.23, RR = 0.55) and HLA-DRB1*1302 alleles (p < 0.05, RR = 0.23). The haplotypes revealed positive association for HLA-DRB1*0102/DQB1*05 (p < 0.05, RR = 5.44) and HLA-DRB1*0701/DQB1*03 alleles (p < 0.02, RR = 9.00). These findings suggest a possible association of the DRB1 allele with the group of patients showing an early onset of the illness, as well as an association with haplotypes HLA-DRB1*0102/DQB1*05 and HLA-DRB1*0701/DQB1*03.