云南汉族多形性日光疹与HLA-DPA1、DPB1和DRB1的多态性分析

目的研究云南汉族多形性日光疹(PLE)患者的HLA-DPA1、DPB1和DRB1等位基因和单倍型的多态性,探讨多形性日光疹的发病机制。方法采用PCR-SBT法检测云南汉族PLE患者和健康人群HLA-DPA1、DPB1和DRB1基因分布,比较两组间等位基因和单倍型频率,分析其与PLE发病的相关性。结果 HLA-DPA1~*02:02:03、DPB1~*05:01:01、DPB1~*14:01:01,DRB1~*08:03:02等位基因和DPA1~*02:02:03-DPB1~*05:01:01单倍型在病例组中频率明显升高,HLA-DPA1~*02:01:02,DPA1~*02:02:02、DRB1~*03:01:01、DRB1~*11:01:01、DRB1~*12:02:01等位基因和DPA1~*02:02:02-DRB1~*03:01:01单倍型在病例组中频率明显降低,未发现有统计学意义的三位点单倍型。结论 HLA-DPA1、DPB1和DRB1与云南汉族多形性日光疹发病具有相关性。     

云南汉族多形性日光疹的临床类型与家族史相关性研究

目的 探讨多形性日光疹(PLE)的临床类型与家族史的相关性.方法 回顾性分析2009年8月～2011年9月昆明医科大学第一附属医院皮肤科确诊的PLE患者的临床资料.结果 PLE病例组中的小丘疹型、大丘疹型、红斑水肿型有家族史的比例显著高于对照组(P＜0.01),PLE病例组中的丘疱疹型和混合型与对照组比较尚无统计学意义(P＞0.05).结论 遗传因素在PLE不同临床类型的分型上可能起重要作用.     

多形性日光疹与口服避孕药

多形日光疹(PLE)为最常见的特发性光线性皮肤病,日光照射后几小时发生瘙痒性皮疹,愈后不留瘢痕.病因仍不明,致病因素似乎包括变应性     

四川彝族麻风易感性和HLA-DRB1和HLA-DQB1等位基因的相关性研究

目的:分析四川省彝族人群HLA-DRB1、HLA-DQB1等位基因与麻风的相关性.方法:运用聚合酶链反应-序列特异性引物(PCR-SSP)方法,对四川省彝族100例麻风患者和100例健康对照分别进行HLA-DRB1和HLA-DQB1等位基因检测,并比较病例组和对照组之间等位基因频率的差异.结果:麻风病例组HLA-DRB1*13等位基因频率较对照组显著增高(P<0.05).结论:HLA-DRB1*13可能与四川省彝族麻风的易感性相关.     

HLA-DQA1和HLA-DQB1等位基因与皖籍汉族人群白癜风的相关性

目的 探讨HLA-DQA1、-DQB1等位基因与皖籍汉族人群白癜风的相关性。方法 采用聚合酶链反应-序列特异性引物(PCR-SSP)方法,检测白癜风患者的HLA-DQA1、-DQB1等位基因。结果 与正常人对照组比较,①白癜风患者HLA-DQA1*0302、-DQB1*0303、-DQB1*0503等位基因频率显著升高,HLA-DQA1*0501等位基因频率显著降低;②HLA-DQA1*0302、-DQA1*0601、-DQB1*0303、-DQB1*0503等位基因频率在儿童型白癜风患者中显著升高,HLA-DQA1*0501等位基因频率显著下降;而成人型白癜风患者HLA-DQB10303等位基因频率显著升高;③HLA-DQA1*0302、-DQB1*0303、-DQB1*0503等位基因频率在泛发型白癜风患者中显著升高,HLA-DQA1*0501等位基因频率显著下降;而局限型白癜风患者HLA-DQB1*0303等位基因显著升高。结论 HLA-DQA1*0302、-DQA1*0601、-DQB1*0303、-DQB1*0503、-DQA1*0501等位基因可能与白癜风相关,不同类型白癜风在其遗传背景上可能存在异质性。     

HLA-DQB1等位基因多态性与复发性尖锐湿疣的关系

【摘要】目的 研究HLA-DQB1等位基因DQB1*0501、DQB1*0502、DQB1*0201、DQB1*0402与复发性尖锐湿疣间的关系,为寻找尖锐湿疣的易感基因提供线索。方法 应用PCR-SSP技术检测84例复发性尖锐湿疣患者和107例正常人的HLA-DQB1等位基因DQB1*0501、DQB1*0502、DQB1*0201、DQB1*0402。结果 尖锐湿疣复发组DQB1*0501等位基因频率明显降低（8.3% vs 21.5%,P<0.05）,DQB1*0201等位基因频率明显降低（0% vs 9.3%,P<0.01）,另两等位基因在两组之间无明显差异,提示DQB1*0501与DQB1*0201与尖锐湿疣复发相关。结论 HLA 多态性可能是与尖锐湿疣复发有关的宿主遗传因素。     

多形性日光疹发病机制的研究

多形性日光疹是最常见的一种光线性皮肤病,目前病因及发病机制尚不完全清楚,可能与遗传、免疫、致病光谱、环境、氧化损伤及内分泌等因素有关。该文总结已有文献,对相关研究进展作一综述。     

多形性日光疹的细胞免疫学研究

多形性日光疹(PLE)被视为是对日光的一种异常的延迟型反应,但迄今尚无确切的基础科学证据支持这一假设.据此,作者用以下三项免疫学试验对55例PLE患者进行了研究,并与58例皮肤迟发性卟啉病(PCT,一种光毒性机制参与的疾病)患者作了比较.     

多形性日光疹一家系调查

临床资料 先证者,女,63岁。面颈部、前臂、双手背丘疹反复发作35年,加重1月。患者35年前日晒后右前臂出现数个米粒至绿豆大红色丘疹,伴瘙痒。当时未予诊疗,避光后自行消退。后每遇日晒皮疹发作,曾在当地按“湿疹”治疗,疗效不明显。35年来皮疹反复发作、并呈进行性加重。1个月前患者无明显诱因双手背再次出现数个黄豆大红色丘疹,     

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。     

云南汉族痤疮表型与家族史相关性的研究

痤疮在青少年中的患病率高达45.6%^[1],青春期患病率在15～16岁达到高峰^[2]。有证据表明,遗传因素可能在痤疮发病中起重要作用^[3,4]。我们通过787例痤疮患者与443例正常健康人群有无痤疮家族史的对比分析,了解痤疮患者表型与家族史的关系,为阐明痤疮的遗传发病机制提供依据.     

安徽汉族人寻常性银屑病与HLA单倍型相关性研究

利用聚合酶链反应-序列特异性引物(PCR-SSP)法,对138例银屑病患者及149例健康对照进行PCR反应,分析单倍型的分布情况,探讨汉族人寻常性银屑病与HLA单倍型的相关性.     

The prevalence of antinuclear antibodies in patients with apparent polymorphic light eruption

Polymorphic light eruption (PLE) is a very common photosensitive disorder, the most important differential diagnosis of which is lupus erythematosus (LE). One-hundred and forty-two patients with PLE were screened for circulating antinuclear (ANA), Ro and La antibodies over a 2-year period. Results were negative in 66 patients. Sixty-two patients had low-titre ANA of various patterns, ranging from trace to 1/80 without evidence of LE although one later developed subacute cutaneous LE. Fourteen had more significant findings, six with ANA ranging from 1/160 to 1/1280 but no anti-Ro antibodies, four with ANA ranging from 1/160 to 1/1280 and also with anti-Ro antibodies and four patients with anti-Ro antibodies but low-titre ANA, one of whom later developed discoid LE. Three of these 14 patients fulfilled the American Rheumatism Association criteria for the diagnosis of systemic LE, but it was not certain in any of the patients whether the PLE-like rash represented cutaneous LE or coincidental PLE. However the overall 10% incidence of definite or possible LE in patients with suspected PLE suggests that all PLE patients should be screened for LE.     

Reduced IL-1Ra/IL-1 ratio in ultraviolet B-exposed skin of patients with polymorphic light eruption

Abstract:  Polymorphic light eruption (PLE) is a putative delayed-type allergic reaction to (solar) ultraviolet (UV) exposure. Inadequate immune suppression after UVB-induced sunburn appears to be associated with reduced trafficking of Langerhans cells (LCs) out of and neutrophils into the epidermis of patients sensitive to UVB provocation of PLE. Therefore, we investigated whether pro-inflammatory and chemotactic cytokines are differentially expressed in UVB-irradiated skin of UVB-provocable PLE patients ( n  = 6) and age- and gender-matched healthy controls ( n  = 6). Interstitial interleukin-1α (IL-1α), IL-1β, IL-1Ra, IL-4, IL-8, tumor necrosis factor-α (TNF-α), macrophage inflammatory protein 1-α (MIP-1α), MIP-1β and monocyte chemotactic protein-1 (MCP-1) were measured in suction blister fluid raised 16 h after exposure to 0, three and six minimal erythemal UVB doses. In unirradiated skin, the IL-1Ra levels were significantly lower in the PLE patients than in controls ( P  < 0.05). IL-8 and TNF-α levels increased strongly upon UVB irradiation in both groups. No differential shifts in cytokine profiles were found that could explain a reduced trafficking of Langerhans cells and neutrophils in PLE patients. Dose-trend analyses showed that UVB irradiation caused significant increases in IL-1α in both groups, and that the levels of IL-1α and IL-1β were on average twofold higher in the PLE group ( P  = 0.03 and P  = 0.004, respectively.). Accordingly, the ratios of IL-1Ra over IL-1α and over IL-1β were overall lower in the skin of PLE patients ( P  = 0.015 and P  < 0.001, respectively.). This shift in cytokines in UVB-irradiated skin of PLE patients reveals an amplified early pro-inflammatory cytokine response, which may contribute to the allergic reaction to UVB radiation.