包头地区汉族寻常型银屑病患者HLA-DQA1*0104等的检测

目的探讨包头市汉族寻常型银屑病患者与HLA-DQA1*0104等位基因的相关性。方法采用聚合酶链反应-序列特异引物(Polymerase chain reaction sequence specific primers,PCR-SSP)法检测75例寻常型银屑病患者及75例健康对照的等位基因频率,并相互比较。结果①HLA-DQA1*0104与包头市汉族寻常型银屑病患者具有明显的相关性(P<0.05,OR=3.45)。②HLA-DQA1*0104在Ⅰ型、Ⅱ型寻常型银屑病患者中分布无差异(χ2=0.076,P>0.05)。③HLA-DQA1*0104在有家族史和无家族史的患者分布有差别(P<0.05,OR=4.48)。结论①HLA-DQA1*0104可能是寻常型银屑病易感基因或与易感基因相连锁。②有家族史和无家族史寻常型银屑病患者在其遗传背景上存在有差异。     

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-DQ/DP等位基因与粤籍汉族斑秃及中医证型的相关性研究

目的探讨HLA-DQ/DP等位基因与粤籍汉族斑秃及中医证型的相关性。方法采用聚合酶链反应-序列特异性引物(PCR-SSP)分型技术,对51例粤籍汉族斑秃患者的HLA-DQ/DP等位基因进行检测,并与110名粤籍汉族健康人群进行对照。结果 HLA-DQA1*0201、DQA1*0601、DQB1*0501、DQB1*0602、DPA1*0103基因频率斑秃组显著高于对照组,有极显著性差异(P0.05或P0.01);DQB1*0301、DPA1*0201基因频率斑秃组显著低于对照组(P0.05);DQA1*0301气血两虚证基因频率显著高于其他证型(P0.05)。结论 HLA-DQA1*0201、DQA1*0601、DQB1*0501、DQB1*0602、DPA1*0103可能是斑秃的易感基因,DQB1*0301、DPA1*0201可能是斑秃的保护基因,DQB1*0301主要与重型组有关,DQB1*0501、DPA1*0103则与轻型组相关,DQA1*0301可能是气血两虚证的易感基础。     

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。     

兰州汉族人寻常性银屑病与HLA-DQA1*0104和*0201的相关性

目的探讨HLA-DQA1*0104和*0201等位基因与兰州汉族寻常性银屑病的相关性。方法采用聚合酶链式反应-序列特异性引物(PCR-SSP)方法分别检测HLA-DQA1*0104和*0201等位基因在60例寻常性银屑病患者及56例健康对照中的分布频率,并进行比较。结果寻常性银屑病患者中HLA-DQA1*0104和*0201等位基因频率(43.33%和36.67%)分别与健康对照组(17.86%,14.29%)比较,差异均有统计学意义(P均<0.05)。结论 HLA-DQA1*0104和*0201可能是兰州汉族寻常性银屑病的易感基因。     

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。     

北方汉族寻常型银屑病与HLA等位基因的关联研究

目的:研究中国北方汉族寻常型银屑病(PsV)与HLA等位基因的关联性。方法:采用序列特异性引物-聚合酶链反应(PCR-SSP)方法检测91例PsV患者和102例健康人HLA-A、B、Cw、DRB1及DQB1等位基因。结果:(1)PsV患者HLA-A*0101-03、A*3001-04、B*5701、Cw*0602、Cw*0603/04/05、DRB1*0701/02及DQB1*0201基因频率较正常对照显著增高;Cw*0401基因频率显著下降(Pc<0.05)。(2)I型PsV患者HLA-A*0101-03、A*3001-04、B*5701、Cw*0602、DRB1*0701/02及DQB1*0201基因频率显著增高,而B*51、Cw*0401、DQB1*0301基因频率显著下降;Cw*0603/04/05基因频率在I型及II型PsV患者均显著增高(Pc<0.05)。有家族史PsV患者HLA-A*3001-04、DRB1*0701/02及DQB1*0201基因频率显著增高;无家族史患者Cw*0602基因频率显著增高,而DQB1*0501-04基因频率显著下降(Pc<0.05)。(3)HLA-A*3001-04、DRB1*0701/02及DQB1*0201基因频率仅在男性PsV患者显著增高;B*5701、Cw*0602基因频率仅在女性患者显著增高(Pc<0.05)。结论:(1)HLA-A*0101-03、A*3001-04、B*5701、Cw*0602、Cw*0603/04/05、DRB1*0701/02及DQB1*0201基因可能是北方汉族PsV的易感基因或与易感基因相连锁。(2)HLA-Cw*0401基因可能是阻止北方汉族PsV发病的“保护因子”。(3)I型或II型、有或无家族史PsV在遗传背景上存在差异。     

广西壮族、汉族系统性硬化病与HLA-DQA1、DQB1等位基因相关性研究

目的 探讨广西壮族、汉族系统性硬化病(SSC)与HLA-DQA1、-DQB1等位基因的相关性.方法 用PCR-序列特异性引物(PCR-SSP)方法,对壮、汉族Sse患者各50例和壮、汉族健康人各100例的HLA-DQA1、-DQB1基因进行研究.结果 与正常人对照组相比,壮族SSc患者组中HLA-DQA1*0401、-DQB1*0501、-DQB1*0601基因频率显著升高(分别为RR:4.06,χ2=15.41,Pc<0.01;RR=4.47,χ2=10.65,Pc<0.01和RR=3.47,χ2=10.06,Pc<0.01),汉族SSc患者组中HLA-DQA1*0401、-DQA1*0601、-DQB1*0601基因频率显著升高(分别为RR=9.33,χ2=8.37,Pc<0.05;RR=8.071,χ2=20.13,Pc<0.01和RR=3.76,χ2=10.76,Pc<0.01).壮、汉族SSc患者组中HLA-DQA1*0201基因频率均显著降低(χ2=13.58,Pc<0.01和χ2=12.21,Pc<0.01).结论 HLA-DQA1*0401、-DQB1*0601可能是广西壮族、汉族SSc患者的易感基因,HLA-DQB1*0501可能是广西壮族SSc患者的易感基因,HLA-DQA1*0601可能是广西汉族SSc患者的易感基因.

Abstract：

Objective To explore the potential associations of HLA-DQA1 and DQB1 alleles with systemic scleroderma (SSc) in Zhuang and Han nationalities in Guangxi Zhuang Autonomous Region. Methods Genomic DNA was extracted from the peripheral blood of SSc patients of Zhuang (n=50) and Han (n=50) nationality,normal controls of Zhuang (n=100) and Han (n=100) nationality in Guangxi Zhuang Autonomous Region.PCR with sequence-specific primers (PCR-SSP) was used to detect HLA-DQA1 and -DQB1 alleles in these subjects. Results There was a significant increase in the frequency of HLA-DQA1*0401, -DQBl*0501 and -DQB1*0601 alleles in the patients of Zhuang nationalty(RR=4.056,χ2=15.407,PC=0.001;RR=4.472,χ2=10.653,Pc=0.004;RR=3.473,χ2=10.06,Pc=0.008)compared with normal controls of Zhuang nationality,and in the frequency of HLA-DQA1*0401,DQA1*0601 and DQB1*0601 alhles in patients of Han nationality (RR=9.333,χ2=8.371,Pc=0.036;RR=8.071,χ2=20.130,Pc=0.000;RR=3.764,χ2=10.755,Pc=0.004)compared with normal control of Han nationality.However,the frequency of HLA-DQA1*0201 allele was statistically lower in the patients of Zhuang and Han nationality than in the controls of corresponding nafionality (χ2=13.583,Pc=0.002;χ2=12.209,Pc=0.004).Conclusions HLA-DQA1*0401 and-DQB1*0601may be susceptible genes for SSc in Zhuang and Han nationalities,HLA-DQB1*0501 for Sse in Zhuang nationality,and HLA-DQAl*060l for SSc in Han nationality in Guangxi Zhuang Autonomous Region.     

壮族人寻常性银屑病与HLA-DQA1和DQB1基因的相关性研究

[摘要]目的：探讨广西壮族人寻常型银屑病的发病与HLA-DQA1和DQB1基因的关联。方法：应用聚合酶链式反应-序列特异引物（PCR-SSP）法对58例壮族寻常型银屑病患者和102例健康壮族人的HLA-DQA1和DQB1座位进行基因分型，比较两组相应等位基因的频率。结果：HLA-DQB1*0303与壮族银屑病患者呈显著的正相关（OR=4.540，p=0.004），而HLA-DQA1*0501和HLA-DQB1*0301与壮族银屑病患者呈显著的负相关（OR=0.189，p=0.000；OR=0.367，p=0.018）。结论：以上3个HLA-DQ等位基因与广西壮族人寻常型银屑病的关系密切，其中HLA-DQB1*0303可能为该人群银屑病的易感因子，而HLA-DQA1*0501和HLA-DQB1*0301则可能对银屑病有抵抗作用。     

北方汉族衣原体引起盆腔炎患者与HLA-DQ相关性的研究

目的 探讨HLA-DQ基因与中国北方汉族衣原体引起盆腔炎的相关性。方法 采用聚合酶链反应/序列特异寡核苷酸探针(PCR-SSO)方法检测35例北方汉族衣原体引起盆腔炎患者的HLA-DQ等位基因。结果 与98例健康对照比较,盆腔炎患者HLA-DQA1*0501、HLA-DQB1*0301等位基因的频率明显增高,且与CHSP60抗体反应相关。结论 该结果可能为进一步揭示衣原体引起盆腔炎的易感基因和免疫遗传发病机制提供线索。     

HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han

BACKGROUND: Psoriasis vulgaris is a chronic skin disorder characterized by infiltration of inflammatory elements, keratinocyte hyperproliferation and altered differentiation. Although the pathogenesis of psoriasis is not fully understood, there is solid evidence of a susceptibility locus in the human leukocyte antigen (HLA) region. OBJECTIVES: To investigate whether HLA-DQA1 and DQB1 alleles are associated with genetic susceptibility to psoriasis vulgaris in Chinese Han. PATIENTS AND METHODS: The polymerase chain reaction-sequence-specific primer (PCR-SSP) method was used to analyse the distribution of HLA-DQA1 and DQB1 alleles in 189 patients with psoriasis and 273 healthy controls. RESULTS: The HLA-DQA1*0104 (OR = 2.33, P = 0.0001154, Pc = 2.0 x 10-3), DQA1*0201 (OR = 3.36, P < 1.0 x 10-7, Pc < 1.0 x 10-6), DQB1*0201 (OR = 1.64, P = 0.0192, Pc > 0.05) and DQB1*0303 (OR = 1.55, P = 0.0377, Pc > 0.05) alleles were more prevalent in patients with psoriasis vulgaris than in controls, and HLA-DQA1*0501 (OR = 0.30, P = 0.0000039, Pc < 4.0 x 10-5) alleles were less prevalent. The HLA-DQA1*0104 (OR = 2.42, P = 0.0001159, Pc < 2.0 x 10-3), DQA1*0201 (OR = 3.74, P < 1.0 x 10-7, Pc < 1.0 x 10-6) and DQA1*0501 (OR = 0.30, P = 0.0000374, Pc < 4.0 x 10-4) alleles were only associated with type I psoriasis. HLA-DQA1*0104 and DQA1*0201 were more prevalent in patients with or without a family history of psoriasis. However, the DQA1*0501 allele was only more prevalent in patients without a family history of psoriasis. CONCLUSION: HLA-DQA1*0104 and DQA1*0201 alleles may be psoriasis susceptibility genes or may be in close linkage with the susceptibility genes. The HLA-DQA1*0501 allele seems to have a protective effect against the development of psoriasis vulgaris in Chinese Han. There may be a difference in genetic background between psoriasis patients with and without a family history of psoriasis.     

内蒙古蒙古族寻常性银屑病与HLA-Cw*0602,-DQB1等位基因的相关性

目的探讨内蒙古蒙古族寻常性银屑病与HLA-Cw*0602,-DQB1等位基因的关联性。方法利用序列特异性引物-聚合酶链反应(PCR-SSP)分型技术,对蒙古族寻常性银屑病患者65例及对照组正常蒙古族60例样本进行分型检测并比较分析。结果①寻常性银屑病患者组HLA-Cw*0602,-DQB1*0201等位基因频率较对照组明显升高,差异有统计学意义(P0.05);②HLA-Cw*0602,-DQB1*0201在Ⅰ型及家族史阳性银屑病患者中显著升高(P0.05);③HLA-DQB1*0301在患者组中有显著下降(P0.05)。结论①HLA-Cw*0602及-DQB1*0201可能是内蒙古地区蒙古族寻常性银屑病的易感基因;有家族史和无家族史银屑病患者可能存在遗传背景上的差异。     

Association of HLA-DQA1 and DQB1 alleles with alolpecia areata in Chinese Hans

Accumulative evidences have shown that certain HLA loci are associated with alopecia areata (AA), but with existing differences in ethnic distribution. No report has ever been published about this in Chinese Hans. To investigate whether HLA-DQA1 and DQB1 alleles are associated with AA, and the correlation of the HLA profile with age of onset, severity, duration of current attack, recurrence and family history of AA in Chinese Hans. The polymerase chain reaction–sequence-specific primer (PCR-SSP) method was used to analyze the distribution of HLA-DQA1 and DQB1 alleles in 192 patients with AA and 273 healthy controls in Chinese Hans. The significant increased frequencies of HLA-DQA1*0104 (OR=3.38, P _c<0.001), HLA-DQB1*0604 (OR=5.17, P _c=0.006) and HLA-DQA1*0606 (OR=3.73, P _c<0.001) were observed in patients compared with controls. The DQA1*0104-DQB1*0604, DQA1*0104-DQB1*0606, and DQA1*0302-DQB1*0606 were found as high-risk haplotypes in developing AA in this study. HLA-DQA1*0104 (OR=5.31, P _c < 0.001) and -DQB1*0604 (OR=5.56, P _c=0.015) were more prevalent only in AA patients with long duration than controls. The frequencies of HLA-DQB1*0604 (OR=5.42, P _c=0.009) and -DQB1*0606 (OR=4.11, P _c<0.001) were obviously increased in patients less than 50% scalp hair loss. No locus was merely associated with early onset, severe involvement, recurrence and a positive family history of AA. This study demonstrated the positive association of HLA-DQA1 and DQB1 alleles and haplotypes with AA. There may be differences in genetic background in patients with different duration.     

泛发性脓疱性银屑病与HLA-DQB1等位基因的相关性研究

目的 探讨山东汉族人泛发性脓疱性银屑病(GPP)与HLA-DQB1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(PCR-SSP)法,对38例山东汉族人GPP与94例健康对照进行HLA-DQB1等位基因分型。结果 GPP患者组HLA-DQB10201、0603基因频率较对照组显著升高(OR=8.10,Pc=0.005;OR=5.06,Pc=0.013),而HLA-DQB10604基因频率较对照组明显降低(OR=0.08,Pc=0.039)。原有寻常性银屑病病史的GPP与HLA-DQB10201、0603强相关(OR=32.31,Pc=0.005;OR=12.42,Pc=0.005);而原无寻常性银屑病病史的GPP与HLA-DQB10602相关(OR=5.60,Pc=0.039)。结论 山东汉族GPP与HLA-DQB10201、0603等位基因高度关联,原有寻常性银屑病病史的GPP与原无寻常性银屑病病史的GPP具有遗传异质性。     

DNA sequence analysis and restriction fragment length polymorphism (RFLP) typing of the HLA-DQw2 alleles associated with dermatitis herpetiformis.

Dermatitis herpetiformis (DH) is a blistering autoimmune skin disease associated with a 95-100% incidence of the HLA class II antigen HLA-DQw2. Although the precise role of this antigen in the pathogenesis of DH is unclear, one theory proposes that patients with DH possess a molecularly unique subtype of the HLA-DQw2 antigen that causes immune abnormalities eventuating in the clinical manifestations of DH. To test this hypothesis, we performed DNA sequence analysis on the highly polymorphic HLA-DQB1 and HLA-DQA1 loci of eight patients with dermatitis herpetiformis. All DQB1 alleles sequenced were identical to the previously described HLA-DQB*0201 allele from HLA-DQw2 normal subjects. In addition, DQA1 alleles sequenced were identical to those alleles previously associated with HLA-DQw2 (DQA*0201, DQA*0501). These data document that although HLA-DQw2 appears to be a necessary element in the pathogenesis of DH, the development of DH is not dependent on the presence of a unique HLA-DQw2 antigen. HLA-DQ allelic typing by restriction fragment length polymorphism analysis of PCR-amplified HLA-DQA1 and HLA-DQB1 fragments was also performed in ten patients with DH to determine the allelic distribution among both HLA-DR3 (eight patients) and non-DR3 (two patients) DH patients. At the HLA-DQ beta chain locus, all patients possessed the DQB1*0201 allele. At the HLA-DQ alpha chain locus, all HLA-DR3 patients and one non-DR3 patient displayed a pattern consistent with the DQA1*0501 allele, whereas one non-DR3 patient displayed a pattern consistent with the DQA1*0201 allele. These data document that patients with DH do not express a unique HLA-DQw2 heterodimer, that the HLA-DQw2 molecules present in patients with DH have no DNA sequence differences from those found in normal HLA-DQw2 subjects and therefore that susceptibility to DH is not due to a unique HLA-DQw2 molecule.     

Human leukocyte antigen class II alleles and natural history of HPV 2/27/57-induced common warts

Epidemiological studies have demonstrated an association between HLA-DQB1*03 alleles and the risk of cervical cancer induced by human papillomavirus (HPV). As persistence of HPV infection is required for developing cervical cancer, we wanted to elucidate the role of HLA-class II allele polymorphisms in the persistence of common warts induced by HPV 2, HPV 27 or HPV 57. Therefore, we determined the distribution of HLA-DQA1, -DQB1, and -DRB1 alleles in 71 patients presenting with HPV 2/27/57-induced common warts which had persisted for at least 18 months as well as in 92 individuals who had never suffered from common warts or whose warts had healed in less than 18 months. Among patients with long-lasting warts, the carriership frequencies and allele frequencies of DQA1*0301, DQB1*0301, DRB1*07 and DRB1*09 were higher, and the allele frequencies of DQA1*0501, DQB1*0603, DRB1*01 and DRB1*03 were lower. Statistically significant differences (Bonferroni adjusted Fishers exact test) were found for carriership frequency of DQA1*0301 (46.5 vs 21.7%, P=0.013) and for carriership frequency (18.3 vs 1.1%, P=0.0015) and allele frequency (12 vs 0.5%, P=0.000013) of DQB1*0301. A greater proportion of patients with long-lasting warts than of subjects without persistent warts were homozygous at the DQA1 (14.1 vs 6.5%) and DQB1 (16.9 vs 8.6%) gene loci. These results suggest that the natural history of cutaneous HPV 2/27/57-induced common warts may be modulated by allele polymorphisms at the HLA-DQA1 and HLA-DQB1 gene loci.