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。     

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。     

HLA-DRB1，DQA1，DQB1基因单倍型与华东地区汉族人群白癜风的相关性

目的 探讨HLA-DRB1、DQA1、DQB1基因单倍型与华东地区汉族人群白癜风的相关性。方法 采用聚合酶链反应-序列特异性寡核苷酸探针(PCR-SSOP)方法检测华东地区汉族白癜风患者HLA-DRB1、DQA1、DQB1位点的等位基因,运用遗传学群体与家系资料计算机分析系统3.0筛选并分析单倍型。结果 与正常人对照组比较,HLA-DRB1^*09-DQA1^*03-DQB1^*0303单倍型频率显著增高(Pc=0.02,OR=2.542)。结论 在华东地区汉族人群中,HLA-DRB1^*09-DQA1^*03-DQB1^*0303单倍型可能是白癜风的易感单倍型。     

白癜风125例临床分析及与HLA-DRB1相关性研究

分析中国北方汉族白癜风的临床特征及与HLA-DRB1等位基因的相关性,探讨白癜风的病因及发病机制.登记125例白癜风门诊患者的临床资料,利用聚合酶链反应-序列特异引物(PCR-SSP)技术对125例白癜风患者和263例健康人进行等位基因检测,对各项指标进行统计分析.结果,白癜风初发年龄男性与女性无显著差异;家族史阳性患者发病年龄早于家族史阴性患者;伴有自身免疫性疾病平均初发年龄大于不伴自身免疫疾病的白癜风患者;白癜风与HLA-DRB1*070X及HLA-DRB1*1201等位基因有相关性.①有家族史和无家族史白癜风患者在遗传背景上存在差异,HLA-DRB1*070X可能为家族史阳性患者的易感基因.②提示了节段型与非节段型白癜风的发病机制有所不同,泛发性及散发性与自身免疫相关明显.③HLA-DRB1*070X及HLA-DRB1*1201可能是中国北方汉族寻常型白癜风的易感基因或与易感基因相连锁.     

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。     

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.     

广西汉族婴幼儿皮肤血管瘤与HLA-DRB1等位基因的相关性研究

目的:探讨HLA-DRB1等位基因多态性与广西汉族婴幼儿皮肤血管瘤的遗传相关性。方法:将广西汉族88例婴幼儿皮肤血管瘤患者(病例组)和105例正常汉族婴幼儿(对照组)作为研究对象。采用聚合酶链反应-序列特异性引物分型技术对两组HLA-DRB1等位基因进行分型,SPSS软件进行统计分析。结果:病例组HLA-DRB1*16等位基因频率为28.98%,明显高于对照组的14.76%(RR=3.29,P<0.05);病例组HLA-DRB1*1401等位基因频率为6.82%,明显低于对照组的16.67%(RR=0.32,P<0.05)。结论:HLA-DRB1*16可能为广西汉族婴幼儿皮肤血管瘤的易感基因。而HLADRB1*1401可能为其保护基因。     

兰州地区汉族寻常性、脓疱性银屑病与HLA-DRB1*0701的相关性

目的探讨兰州地区汉族寻常性、脓疱性银屑病与HLA-DRB1*0701等位基因的相关性。方法采用聚合酶链反应-序列特异引物(PCR-SSP)法检测42例寻常性银屑病、28例脓疱性银屑病和50例健康对照者HLA-DRB1*0701等位基因频率,并相互比较。结果寻常性银屑病患者组及脓疱性银屑病患者组HLA-DRB1*0701等位基因频率分别(54.8%,46.4%)与正常对照组(22.0%)比较差异均有显著性(P<0.05)。结论HLA-DRB1*0701等位基因可能是兰州地区汉族寻常性、脓疱性银屑病的遗传标志。     

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。     

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。     

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。     

HLA-DRB1等位基因与四川汉族人寻常型天疱疮的相关性研究

目的 探讨HLA-DRB1等位基因与四川汉族人寻常型天疱疮的相关性.方法 采用聚合酶连反应-序列特异性引物(PCR-SSP)对19例四川汉族寻常型天疱疮患者和25例健康对照组进行低分辨和高分辨HLA-DRB1等位基因分型,计算各等位基因频率.采用x2检验比较两组等位基因频率.结果 在寻常型天疱疮患者和健康对照者中共检出9种低分辨DRB1等位基因和19种高分辨DRB1等位基因.与健康对照组相比,寻常型天疱疮患者DRB1*14等位基因频率(39.47％,15/38)及DRB 1*1405等位基因频率(15.79％,6/38)均显著高于健康对照组[8.00％(4/50),2.00％(1/50)],差异均有统计学意义(x2=17.43、4.25,均P＜0.05).结论 DRB1*14可能是四川汉族寻常型天疱疮患者的常见易感基因,其中DRB1*1405与寻常型天疱疮最具有相关性.     

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。     

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.     

特应性皮炎与HLA-DRB1 DQB1基因的相关性研究

目的探讨HLA-DRB1和DQB1位点基因与汉族特应性皮炎的相关性。方法用序列特异性引物-聚合酶链反应(PCR-SSP)方法,对59例特应性皮炎患者(来自27个家系)和60例正常对照者进行了HLA-DRB1和DQB1等位基因的分型,并分析了DRB1和DQB1基因在各组中的分布。结果特应性皮炎患者组DRB1*15,DR7,DQB1*0601等位基因频率较正常对照组增高(P<0.05);特应性皮炎患者组DQB1*0302频率较正常对照组降低(P<0.05)。特应性皮炎家系成员中对屋尘螨抗原皮试阳性者HLA-DR7等位基因频率较皮试阴性者均显著增高(P<0.05)。结论特应性皮炎的发病可能与DRB1*15,DR7,DQB1*0601相关;DQB1*0302对特应性皮炎的发病可能起保护作用。HLA-DR7在限定对屋尘螨抗原特异性IgE反应过程中起重要作用。     

Study on association between polymorphism of HLA-DRB1 alleles and Behçet's disease

Background  Behçet's disease (BD) is known to be associated with human leucocyte antigen (HLA)-B*51 in many ethnic groups. However, the association of HLA class II gene with BD has been described to be different according to different countries and regions.
Objective  This study aims to investigate the association between polymorphism of HLA-DRB1 alleles and BD.
Methods  Forty patients with BD and 100 healthy controls were typed for HLA-DRB1 alleles by the LABType^TM SSO method.
Results  The frequency of HLA-DRB1*14 was significantly higher in BD patients than in controls ( P <  0.05), while the frequency of HLA-DRB1*15 was markedly lower in BD patients ( P <  0.05). Regarding clinical manifestations, the frequency of HLA-DRB1*15 was significantly decreased in BD patients with genital ulcerations compared with controls ( P <  0.05); the frequency of HLA-DRB1*14 was significantly increased in BD patients with erythema nodosum–like lesions and in BD patients with folliculitis-like lesions when compared to controls ( P <  0.05, respectively). Moreover, the frequency of HLA-DRB1*14 was significantly increased in BD patients under 20 years of age at the onset of disease ( P <  0.01), while the frequency of HLA-DRB1*15 was significantly decreased in them ( P <  0.05), compared with controls.
Conclusion  The results suggested that HLA-DRB1 alleles might play an important role in the onset and clinical manifestations of BD.     

Association of HLA-DQA1 and DQB1 genes with vitiligo in Chinese Hans

BACKGROUND: Vitiligo is an acquired depigmentary disorder of the skin and hair which results from selective destruction of melanocytes. Serological typing and genotyping of human leukocyte antigen (HLA) have shown discrepancies in HLA associations with vitiligo in different ethnic populations. METHODS: Polymerase chain reaction sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA-DQA(1) and -DQB(1) alleles among 187 patients with vitiligo and 273 healthy controls through Epi Info version 6 package (Centers for Disease Control and Prevention, Atlanta, GA, USA). RESULTS: The frequencies of HLA-DQA1*0302 (OR = 1.98, P(c) < 0.01), -DQB1*0303 (OR = 3.14, P(c) < 0.001), and -DQB1*0503 (OR = 3.36, P(c) < 0.05) alleles were significantly increased in patients with vitiligo compared with controls, and HLA-DQA(1)*0501 (OR = 0.40, P(c) < 0.01) allele frequency was highly decreased. HLA-DQA1*0302 (OR = 5.19, P(c) < 0.001), -DQA1*0601 (OR = 2.95, P(c) < 0.05), -DQB1*0303 (OR = 4.50, P(c) < 0.001), and -DQB1*0503 (OR = 6.69, P(c) < 0.001) alleles were positively associated, whereas HLA-DQA1*0501 (OR = 0.05, P(c) < 0.001) allele was negatively associated with childhood vitiligo patients, and HLA-DQB1*0303 (OR = 2.76, P(c) < 0.001) allele was positively associated with adult vitiligo patients compared with controls. The frequency of HLA-DQB1*0303 (OR = 3.72, P(c) < 0.001) allele was significantly increased in localized vitiligo patients vs. controls, whereas HLA-DQA1*0302 (OR = 2.47, P(c) < 0.01), -DQB1*0303 (OR = 2.67, P(c) < 0.01), and -DQB1*0503 (OR = 4.46, P(c) < 0.01) allele frequencies were significantly increased and -DQA1*0501 (OR = 0.27, P(c) < 0.01) allele frequency was highly decreased in generalized vitiligo patients. CONCLUSIONS: HLA-DQA1*0302, -DQA1*0601, -DQB1*0303, and -DQB1*0503 alleles could be susceptible alleles of vitiligo, while HLA-DQA1*0501 allele could be a protective allele in Chinese Hans. There may be different genetic backgrounds between vitiligo patients of childhood and adult, localized and generalized.     

HLA-DQA1*0302、DQB1*0303与新疆维吾尔族白癜风的相关性研究

目的 探讨HLA-DQA1、DQB1等位基因与新疆维吾尔族白癜风相关性。方法 聚合酶链反应-序列特异性引物（PCR-SSP）检测300例维吾尔族白癜风患者HLA-DQA1*0302、DQB1*0303等位基因。结果 与300例维吾尔族正常人对照组相比,①白癜风患者DQA1*0302（20.5%比13.83%）、DQB1*0303（30.17%比13.33%）等位基因频率显著增高（P ＜ 0.01）;②HLA-DQA1*0302、DQB1*0303等位基因频率在成人型（发病年龄 ＞ 12岁）及儿童型（发病年龄≤12岁）的白癜风患者中均增高（P ＜ 0.01）;③HLA-DQB1*0303等位基因频率在有、无家族史的白癜风患者中均增高（P ＜ 0.01）,HLA -DQA1*0302等位基因频率在无家族史病例中显著增高（P ＜ 0.01）;④白癜风组儿童型和成人型两组间比较及有、无家族史两组间比较,DQA1*0302、DQB1*0303等位基因频率差异无统计学意义（P > 0.05）。 结论 HLA-DQA1*0302、DQB1*0303等位基因可能与新疆维吾尔族白癜风相关,儿童型和成人型及有、无家族史的白癜风在其遗传背景上可能存在异质性。