中国南方汉族重型斑秃与HLA-DRB1等位基因的相关性研究
发布时间：2019-02-16 09:58
【摘要】：研究背景 斑秃(alopecia areata)是一种常见的毛发疾病,呈局限性斑片状脱发,常表现为多灶性。本病在一般人群的患病率约为0.1-0.2%,约占皮肤科门诊初诊患者的2%,其中5%-7%患者病情严重,可发展为全秃(alopecia totalis, AT)和普秃(alopecia universalis, AU)。斑秃尤其是重型斑秃不仅仅是美容问题,还会给患者带来很大的精神负担,激发感情脆弱,丧失自信等心理问题,常严重影响患者的工作和生活。目前,斑秃尤其是重型斑秃治疗比较困难,而且病情容易反复,迁延,是近年来毛发疾病研究的热点和难点。 斑秃的病因尚不明确。目前普遍认为斑秃是一种T淋巴细胞介导的针对毛囊的自身免疫性疾病,是在遗传素质和环境诱发因素相互作用下产生的一种多基因疾病。近来的研究表明斑秃和HLA-Ⅱ类等位基因有很强的关联性,而HLA-Ⅱ类分子中以DRB1最具多态性,对于免疫应答起决定性作用,且迄今所建立的HLA分型技术对HLA-DRB1多态性的分析最为成熟。国内外通过对斑秃的研究发现,某些HLA-DRB1等位基因与斑秃的轻重程度有相关性,而且在不同的种族和地区人群中存在着差异。目前关于中国南方汉族重型斑秃与HLA-DRB1等位基因相关性的报道较少。 研究目的 探讨中国南方汉族人群重型斑秃与HLA-DRB1等位基因的相关性。 研究方法 采用直接测序分型-聚合酶链反应(PCR-SBT)技术对已确诊的72例中国南方地区汉族重型斑秃和40例轻型斑秃患者进行HLA-DRB1基因多态性分析。正常对照采用已知的中国南方汉族5645例健康患者HLA-DRB1等位基因频率。采用χ2检验比较各等位基因频率的差异。 研究结果 轻型斑秃组HLA-DRB1*03等位基因频率较正常对照组显著升高(χ2 =15.729,P=0.000,OR=11.802),而重型斑秃组与正常对照组比差异无显著性意义。 重型斑秃组HLA-DRB1*04等位基因频率较正常对照组显著升高(χ2=24.358,P=0.000,OR=3.057),轻型斑秃组与正常对照组比差异无显著意义。 HLA-DRB1*07等位基因频率在重型斑秃组明显降低(χ2 =5.033,P=0.025,OR=0.143),而轻型斑秃组与正常对照组比差异无显著性意义。 HLA-DRB1*09等位基因频率在重型斑秃组也明显降低(χ2 =4.114,P=0.043,OR=0.558),轻型斑秃组与正常对照组比差异无显著性意义。 重型、轻型斑秃的HLA-DRB1*01、05、08、11、12、13、14、15、16等位基因频率与正常对照组比差异无统计学意义。 结论 HLA-DRB1*03、04、07、09等位基因与中国南方汉族斑秃病情严重程度相关。重型斑秃中HLA-DRB1*07、09等位基因频率明显降低,可能是重型斑秃的保护基因;而HLA-DRB1*04等位基因的频率升高,可能是重型斑秃的易感基因。轻型斑秃组HLA-DRB1*03等位基因频率升高。
[Abstract]:Background: alopecia areata (alopecia areata) is a common hair disease. The prevalence rate of this disease in the general population is about 0.1-0.2, which accounts for about 2 cases of first-time dermatological outpatients. Among them, 5-7% of the patients are seriously ill, and can develop into total alopecia (alopecia totalis, AT) and (alopecia universalis, AU). Alopecia areata, especially severe alopecia areata, is not only a cosmetic problem, but also brings a great mental burden to patients, arousing emotional fragility, self-distrust and other psychological problems, which often seriously affect the work and life of patients. At present, the treatment of alopecia areata, especially severe alopecia areata, is difficult, and the disease is easy to be repeated and prolonged, which is a hot and difficult point in the research of hair diseases in recent years. The etiology of alopecia areata is unclear. At present, alopecia areata is a T-lymphocyte mediated autoimmune disease for hair follicles. It is a polygenic disease caused by the interaction of genetic quality and environmental factors. Recent studies have shown that alopecia areata has a strong association with HLA- class II alleles, and DRB1 is the most polymorphic of HLA- class II molecules, which plays a decisive role in immune response. The HLA typing technique developed so far is the most mature for the analysis of HLA-DRB1 polymorphism. Studies on alopecia areata at home and abroad show that some HLA-DRB1 alleles are correlated with the degree of alopecia areata and there are differences among different races and regions. There are few reports about the association between HLA-DRB1 allele and severe alopecia areata in Han nationality in southern China. Objective to investigate the correlation between severe alopecia areata and HLA-DRB1 allele in Han population of southern China. Methods the polymorphism of HLA-DRB1 gene was analyzed by direct sequencing polymerase chain reaction (PCR-SBT) in 72 patients with severe alopecia areata and 40 patients with mild alopecia areata in southern China. The HLA-DRB1 allele frequency of 5645 healthy patients in southern China was used as a normal control. The frequencies of alleles were compared by 蠂 2 test. Results the frequency of HLA-DRB1*03 allele in the mild alopecia areata group was significantly higher than that in the normal control group (蠂 2 = 15.729), but there was no significant difference between the severe alopecia areata group and the normal control group. The frequency of HLA-DRB1*04 allele in the severe alopecia areata group was significantly higher than that in the normal control group (蠂 ~ 2 ~ 2 ~ (24) 358). There was no significant difference between the light alopecia areata group and the normal control group. The frequency of HLA-DRB1*07 allele was significantly decreased in severe alopecia areata group (蠂 2 = 5.033), but there was no significant difference between mild alopecia areata group and normal control group. The frequency of HLA-DRB1*09 allele was also significantly decreased in severe alopecia areata group (蠂 2 = 4.114). There was no significant difference between mild alopecia areata group and normal control group. There was no significant difference in allele frequency of HLA-DRB1*01,05,08,11,12,13,14,15,16 between severe and mild alopecia areata and normal controls. Conclusion HLA-DRB1*03,04,07,09 allele is associated with the severity of alopecia areata in the Han nationality of southern China. The frequency of HLA-DRB1*07,09 allele in severe alopecia areata was significantly decreased, which may be the protective gene of severe alopecia areata, while the frequency of HLA-DRB1*04 allele was increased, which may be the susceptible gene of severe alopecia areata. The frequency of HLA-DRB1*03 allele was increased in mild alopecia areata.
【学位授予单位】：广州医学院
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R758.71
[Abstract]:Background: alopecia areata (alopecia areata) is a common hair disease. The prevalence rate of this disease in the general population is about 0.1-0.2, which accounts for about 2 cases of first-time dermatological outpatients. Among them, 5-7% of the patients are seriously ill, and can develop into total alopecia (alopecia totalis, AT) and (alopecia universalis, AU). Alopecia areata, especially severe alopecia areata, is not only a cosmetic problem, but also brings a great mental burden to patients, arousing emotional fragility, self-distrust and other psychological problems, which often seriously affect the work and life of patients. At present, the treatment of alopecia areata, especially severe alopecia areata, is difficult, and the disease is easy to be repeated and prolonged, which is a hot and difficult point in the research of hair diseases in recent years. The etiology of alopecia areata is unclear. At present, alopecia areata is a T-lymphocyte mediated autoimmune disease for hair follicles. It is a polygenic disease caused by the interaction of genetic quality and environmental factors. Recent studies have shown that alopecia areata has a strong association with HLA- class II alleles, and DRB1 is the most polymorphic of HLA- class II molecules, which plays a decisive role in immune response. The HLA typing technique developed so far is the most mature for the analysis of HLA-DRB1 polymorphism. Studies on alopecia areata at home and abroad show that some HLA-DRB1 alleles are correlated with the degree of alopecia areata and there are differences among different races and regions. There are few reports about the association between HLA-DRB1 allele and severe alopecia areata in Han nationality in southern China. Objective to investigate the correlation between severe alopecia areata and HLA-DRB1 allele in Han population of southern China. Methods the polymorphism of HLA-DRB1 gene was analyzed by direct sequencing polymerase chain reaction (PCR-SBT) in 72 patients with severe alopecia areata and 40 patients with mild alopecia areata in southern China. The HLA-DRB1 allele frequency of 5645 healthy patients in southern China was used as a normal control. The frequencies of alleles were compared by 蠂 2 test. Results the frequency of HLA-DRB1*03 allele in the mild alopecia areata group was significantly higher than that in the normal control group (蠂 2 = 15.729), but there was no significant difference between the severe alopecia areata group and the normal control group. The frequency of HLA-DRB1*04 allele in the severe alopecia areata group was significantly higher than that in the normal control group (蠂 ~ 2 ~ 2 ~ (24) 358). There was no significant difference between the light alopecia areata group and the normal control group. The frequency of HLA-DRB1*07 allele was significantly decreased in severe alopecia areata group (蠂 2 = 5.033), but there was no significant difference between mild alopecia areata group and normal control group. The frequency of HLA-DRB1*09 allele was also significantly decreased in severe alopecia areata group (蠂 2 = 4.114). There was no significant difference between mild alopecia areata group and normal control group. There was no significant difference in allele frequency of HLA-DRB1*01,05,08,11,12,13,14,15,16 between severe and mild alopecia areata and normal controls. Conclusion HLA-DRB1*03,04,07,09 allele is associated with the severity of alopecia areata in the Han nationality of southern China. The frequency of HLA-DRB1*07,09 allele in severe alopecia areata was significantly decreased, which may be the protective gene of severe alopecia areata, while the frequency of HLA-DRB1*04 allele was increased, which may be the susceptible gene of severe alopecia areata. The frequency of HLA-DRB1*03 allele was increased in mild alopecia areata.
【学位授予单位】：广州医学院
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R758.71
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