中國南方漢族重型斑禿與HLA-DRB1等位基因的相關(guān)性研究
發(fā)布時間:2019-02-16 09:58
【摘要】:研究背景 斑禿(alopecia areata)是一種常見的毛發(fā)疾病,呈局限性斑片狀脫發(fā),常表現(xiàn)為多灶性。本病在一般人群的患病率約為0.1-0.2%,約占皮膚科門診初診患者的2%,其中5%-7%患者病情嚴(yán)重,可發(fā)展為全禿(alopecia totalis, AT)和普禿(alopecia universalis, AU)。斑禿尤其是重型斑禿不僅僅是美容問題,還會給患者帶來很大的精神負(fù)擔(dān),激發(fā)感情脆弱,喪失自信等心理問題,常嚴(yán)重影響患者的工作和生活。目前,斑禿尤其是重型斑禿治療比較困難,而且病情容易反復(fù),遷延,是近年來毛發(fā)疾病研究的熱點和難點。 斑禿的病因尚不明確。目前普遍認(rèn)為斑禿是一種T淋巴細(xì)胞介導(dǎo)的針對毛囊的自身免疫性疾病,是在遺傳素質(zhì)和環(huán)境誘發(fā)因素相互作用下產(chǎn)生的一種多基因疾病。近來的研究表明斑禿和HLA-Ⅱ類等位基因有很強的關(guān)聯(lián)性,而HLA-Ⅱ類分子中以DRB1最具多態(tài)性,對于免疫應(yīng)答起決定性作用,且迄今所建立的HLA分型技術(shù)對HLA-DRB1多態(tài)性的分析最為成熟。國內(nèi)外通過對斑禿的研究發(fā)現(xiàn),某些HLA-DRB1等位基因與斑禿的輕重程度有相關(guān)性,而且在不同的種族和地區(qū)人群中存在著差異。目前關(guān)于中國南方漢族重型斑禿與HLA-DRB1等位基因相關(guān)性的報道較少。 研究目的 探討中國南方漢族人群重型斑禿與HLA-DRB1等位基因的相關(guān)性。 研究方法 采用直接測序分型-聚合酶鏈反應(yīng)(PCR-SBT)技術(shù)對已確診的72例中國南方地區(qū)漢族重型斑禿和40例輕型斑禿患者進行HLA-DRB1基因多態(tài)性分析。正常對照采用已知的中國南方漢族5645例健康患者HLA-DRB1等位基因頻率。采用χ2檢驗比較各等位基因頻率的差異。 研究結(jié)果 輕型斑禿組HLA-DRB1*03等位基因頻率較正常對照組顯著升高(χ2 =15.729,P=0.000,OR=11.802),而重型斑禿組與正常對照組比差異無顯著性意義。 重型斑禿組HLA-DRB1*04等位基因頻率較正常對照組顯著升高(χ2=24.358,P=0.000,OR=3.057),輕型斑禿組與正常對照組比差異無顯著意義。 HLA-DRB1*07等位基因頻率在重型斑禿組明顯降低(χ2 =5.033,P=0.025,OR=0.143),而輕型斑禿組與正常對照組比差異無顯著性意義。 HLA-DRB1*09等位基因頻率在重型斑禿組也明顯降低(χ2 =4.114,P=0.043,OR=0.558),輕型斑禿組與正常對照組比差異無顯著性意義。 重型、輕型斑禿的HLA-DRB1*01、05、08、11、12、13、14、15、16等位基因頻率與正常對照組比差異無統(tǒng)計學(xué)意義。 結(jié)論 HLA-DRB1*03、04、07、09等位基因與中國南方漢族斑禿病情嚴(yán)重程度相關(guān)。重型斑禿中HLA-DRB1*07、09等位基因頻率明顯降低,可能是重型斑禿的保護基因;而HLA-DRB1*04等位基因的頻率升高,可能是重型斑禿的易感基因。輕型斑禿組HLA-DRB1*03等位基因頻率升高。
[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.
【學(xué)位授予單位】:廣州醫(yī)學(xué)院
【學(xué)位級別】:碩士
【學(xué)位授予年份】:2011
【分類號】: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.
【學(xué)位授予單位】:廣州醫(yī)學(xué)院
【學(xué)位級別】:碩士
【學(xué)位授予年份】:2011
【分類號】:R758.71
【參考文獻】
相關(guān)期刊論文 前7條
1 劉愛民;yす,
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